Log page index: User:ProteinBoxBot/PBB_Log_Index
Protein Status Quick Log - Date: 00:11, 9 November 2007 (UTC)[edit]
Proteins without matches (19)[edit]
Proteins with a High Potential Match (6)[edit]
Created (6)[edit]
Manual Inspection (Page not found) (19)[edit]
Protein Status Grid - Date: 00:11, 9 November 2007 (UTC)[edit]
Vebose Log - Date: 00:11, 9 November 2007 (UTC)[edit]
- INFO: Beginning work on ATF3... {November 8, 2007 3:36:18 PM PST}
- CREATE: Found no pages, creating new page. {November 8, 2007 3:36:51 PM PST}
- CREATED: Created new protein page: ATF3 {November 8, 2007 3:36:58 PM PST}
- INFO: Beginning work on CEL... {November 8, 2007 3:39:16 PM PST}
- UPLOAD: Added new Image to wiki:
{November 8, 2007 3:40:10 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:40:38 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CEL_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1f6w.
| PDB = {{PDB2|1f6w}}, {{PDB2|1jmy}}
| Name = Carboxyl ester lipase (bile salt-stimulated lipase)
| HGNCid = 1848
| Symbol = CEL
| AltSymbols =; FAP; BAL; BSDL; BSSL; CELL; CEase; FAPP; LIPA; MODY8
| OMIM = 114840
| ECnumber =
| Homologene = 37529
| MGIid = 88374
| GeneAtlas_image1 = PBB_GE_CEL_205910_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CEL_207412_x_at_tn.png
| Function = {{GNF_GO|id=GO:0004759 |text = carboxylesterase activity}} {{GNF_GO|id=GO:0004771 |text = sterol esterase activity}} {{GNF_GO|id=GO:0004806 |text = triacylglycerol lipase activity}} {{GNF_GO|id=GO:0008201 |text = heparin binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006629 |text = lipid metabolic process}} {{GNF_GO|id=GO:0006641 |text = triacylglycerol metabolic process}} {{GNF_GO|id=GO:0006707 |text = cholesterol catabolic process}} {{GNF_GO|id=GO:0009062 |text = fatty acid catabolic process}} {{GNF_GO|id=GO:0016042 |text = lipid catabolic process}} {{GNF_GO|id=GO:0018350 |text = protein amino acid esterification}} {{GNF_GO|id=GO:0030157 |text = pancreatic juice secretion}} {{GNF_GO|id=GO:0030299 |text = cholesterol absorption}} {{GNF_GO|id=GO:0044258 |text = intestinal lipid catabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1056
| Hs_Ensembl = ENSG00000170835
| Hs_RefseqProtein = NP_001798
| Hs_RefseqmRNA = NM_001807
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 9
| Hs_GenLoc_start = 134927186
| Hs_GenLoc_end = 134937069
| Hs_Uniprot = P19835
| Mm_EntrezGene = 12613
| Mm_Ensembl = ENSMUSG00000026818
| Mm_RefseqmRNA = NM_009885
| Mm_RefseqProtein = NP_034015
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 28377831
| Mm_GenLoc_end = 28385375
| Mm_Uniprot = Q3V2H7
}}
}}
'''Carboxyl ester lipase (bile salt-stimulated lipase)''', also known as '''CEL''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein.<ref>{{cite web | title = Entrez Gene: CEL carboxyl ester lipase (bile salt-stimulated lipase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1056| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CLCN1... {November 8, 2007 3:40:38 PM PST}
- CREATE: Found no pages, creating new page. {November 8, 2007 3:41:15 PM PST}
- CREATED: Created new protein page: CLCN1 {November 8, 2007 3:41:22 PM PST}
- INFO: Beginning work on CTSA... {November 8, 2007 3:49:57 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein CTSA image.jpg {November 8, 2007 3:50:29 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:50:52 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
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| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CTSA_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1ivy.
| PDB = {{PDB2|1ivy}}
| Name = Cathepsin A
| HGNCid = 9251
| Symbol = CTSA
| AltSymbols =; GLB2; GSL; NGBE; PPCA; PPGB
| OMIM = 256540
| ECnumber =
| Homologene = 80163
| MGIid = 97748
| GeneAtlas_image1 = PBB_GE_CTSA_200661_at_tn.png
| Function = {{GNF_GO|id=GO:0004185 |text = serine carboxypeptidase activity}} {{GNF_GO|id=GO:0004186 |text = carboxypeptidase C activity}} {{GNF_GO|id=GO:0005478 |text = transporter activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008047 |text = enzyme activator activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005764 |text = lysosome}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0006886 |text = intracellular protein transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5476
| Hs_Ensembl = ENSG00000064601
| Hs_RefseqProtein = NP_000299
| Hs_RefseqmRNA = NM_000308
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 20
| Hs_GenLoc_start = 43952190
| Hs_GenLoc_end = 43960866
| Hs_Uniprot = P10619
| Mm_EntrezGene = 19025
| Mm_Ensembl = ENSMUSG00000017760
| Mm_RefseqmRNA = NM_001038492
| Mm_RefseqProtein = NP_001033581
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 164524078
| Mm_GenLoc_end = 164532237
| Mm_Uniprot = Q544R6
}}
}}
'''Cathepsin A''', also known as '''CTSA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis.<ref>{{cite web | title = Entrez Gene: CTSA cathepsin A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5476| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on DDR1... {November 8, 2007 3:36:58 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:38:44 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Discoidin domain receptor family, member 1
| HGNCid = 2730
| Symbol = DDR1
| AltSymbols =; CAK; CD167; DDR; EDDR1; MCK10; NEP; NTRK4; PTK3; PTK3A; RTK6; TRKE
| OMIM = 600408
| ECnumber =
| Homologene = 68212
| MGIid = 99216
| GeneAtlas_image1 = PBB_GE_DDR1_1007_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_DDR1_207169_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_DDR1_208779_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004713 |text = protein-tyrosine kinase activity}} {{GNF_GO|id=GO:0004714 |text = transmembrane receptor protein tyrosine kinase activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007169 |text = transmembrane receptor protein tyrosine kinase signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 780
| Hs_Ensembl = ENSG00000137332
| Hs_RefseqProtein = NP_001945
| Hs_RefseqmRNA = NM_001954
| Hs_GenLoc_db =
| Hs_GenLoc_chr = c6_COX
| Hs_GenLoc_start = 30989009
| Hs_GenLoc_end = 31005081
| Hs_Uniprot = Q08345
| Mm_EntrezGene = 12305
| Mm_Ensembl = ENSMUSG00000003534
| Mm_RefseqmRNA = NM_007584
| Mm_RefseqProtein = NP_031610
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 35289621
| Mm_GenLoc_end = 35312652
| Mm_Uniprot = O35407
}}
}}
'''Discoidin domain receptor family, member 1''', also known as '''DDR1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and transformed epithelial cells and is activated by various types of collagen. This protein belongs to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed that expression of this encoded protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Alternative splicing of this gene results in multiple transcript variants.<ref>{{cite web | title = Entrez Gene: DDR1 discoidin domain receptor family, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=780| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GLUD1... {November 8, 2007 3:41:22 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein GLUD1 image.jpg {November 8, 2007 3:42:20 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:42:36 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_GLUD1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1hwx.
| PDB = {{PDB2|1hwx}}, {{PDB2|1hwy}}, {{PDB2|1hwz}}, {{PDB2|1l1f}}, {{PDB2|1nqt}}, {{PDB2|1nr1}}, {{PDB2|1nr7}}
| Name = Glutamate dehydrogenase 1
| HGNCid = 4335
| Symbol = GLUD1
| AltSymbols =; GDH; GLUD; MGC132003
| OMIM = 138130
| ECnumber =
| Homologene = 55885
| MGIid = 95753
| GeneAtlas_image1 = PBB_GE_GLUD1_200947_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_GLUD1_200946_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004352 |text = glutamate dehydrogenase activity}} {{GNF_GO|id=GO:0004353 |text = glutamate dehydrogenase [NAD(P)+] activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0006520 |text = amino acid metabolic process}} {{GNF_GO|id=GO:0006538 |text = glutamate catabolic process}} {{GNF_GO|id=GO:0007169 |text = transmembrane receptor protein tyrosine kinase signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2746
| Hs_Ensembl = ENSG00000148672
| Hs_RefseqProtein = NP_005262
| Hs_RefseqmRNA = NM_005271
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 88800223
| Hs_GenLoc_end = 88844603
| Hs_Uniprot = P00367
| Mm_EntrezGene = 14661
| Mm_Ensembl =
| Mm_RefseqmRNA = XM_987719
| Mm_RefseqProtein = XP_992813
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Glutamate dehydrogenase 1''', also known as '''GLUD1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = L-glutamate dehydrogenase (EC 1.4.1.3) has a central role in nitrogen metabolism in plants and animals. Glutamate dehydrogenase is found in all organisms and catalyzes the oxidative deamination of 1-glutamate to 2-oxoglutarate (Smith et al., 2001). Glutamate, the main substrate of GLUD, is present in brain in concentrations higher than in other organs. In nervous tissue, GLUD appears to function in both the synthesis and the catabolism of glutamate and perhaps in ammonia detoxification (Mavrothalassitis et al., 1988).[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: GLUD1 glutamate dehydrogenase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2746| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Meissner T, Beinbrech B, Mayatepek E |title=Congenital hyperinsulinism: molecular basis of a heterogeneous disease. |journal=Hum. Mutat. |volume=13 |issue= 5 |pages= 351-61 |year= 1999 |pmid= 10338089 |doi= 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on IL1R1... {November 8, 2007 3:42:36 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein IL1R1 image.jpg {November 8, 2007 3:43:07 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:43:28 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_IL1R1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1g0y.
| PDB = {{PDB2|1g0y}}, {{PDB2|1ira}}, {{PDB2|1itb}}
| Name = Interleukin 1 receptor, type I
| HGNCid = 5993
| Symbol = IL1R1
| AltSymbols =; CD121A; D2S1473; IL-1R-alpha; IL1R; IL1RA; P80
| OMIM = 147810
| ECnumber =
| Homologene = 677
| MGIid = 96545
| GeneAtlas_image1 = PBB_GE_IL1R1_215561_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004888 |text = transmembrane receptor activity}} {{GNF_GO|id=GO:0004909 |text = interleukin-1, Type I, activating receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006954 |text = inflammatory response}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0019221 |text = cytokine and chemokine mediated signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3554
| Hs_Ensembl = ENSG00000115594
| Hs_RefseqProtein = NP_000868
| Hs_RefseqmRNA = NM_000877
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 2
| Hs_GenLoc_start = 102125678
| Hs_GenLoc_end = 102159788
| Hs_Uniprot = P14778
| Mm_EntrezGene = 16177
| Mm_Ensembl = ENSMUSG00000026072
| Mm_RefseqmRNA = XM_979865
| Mm_RefseqProtein = XP_984959
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 1
| Mm_GenLoc_start = 40169626
| Mm_GenLoc_end = 40260723
| Mm_Uniprot = Q32MH0
}}
}}
'''Interleukin 1 receptor, type I''', also known as '''IL1R1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein is a receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12.<ref>{{cite web | title = Entrez Gene: IL1R1 interleukin 1 receptor, type I| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3554| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on KCNA5... {November 8, 2007 3:43:28 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:44:13 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Potassium voltage-gated channel, shaker-related subfamily, member 5
| HGNCid = 6224
| Symbol = KCNA5
| AltSymbols =; HK2; HCK1; HPCN1; KV1.5; MGC117058; MGC117059; PCN1
| OMIM = 176267
| ECnumber =
| Homologene = 1683
| MGIid = 96662
| GeneAtlas_image1 = PBB_GE_KCNA5_206762_at_tn.png
| Function = {{GNF_GO|id=GO:0005251 |text = delayed rectifier potassium channel activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0030955 |text = potassium ion binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0008076 |text = voltage-gated potassium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006813 |text = potassium ion transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3741
| Hs_Ensembl = ENSG00000130037
| Hs_RefseqProtein = NP_002225
| Hs_RefseqmRNA = NM_002234
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 12
| Hs_GenLoc_start = 5023346
| Hs_GenLoc_end = 5026210
| Hs_Uniprot = P22460
| Mm_EntrezGene = 16493
| Mm_Ensembl = ENSMUSG00000045534
| Mm_RefseqmRNA = NM_145983
| Mm_RefseqProtein = NP_666095
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 6
| Mm_GenLoc_start = 126498974
| Mm_GenLoc_end = 126500782
| Mm_Uniprot = Q9Z1R6
}}
}}
'''Potassium voltage-gated channel, shaker-related subfamily, member 5''', also known as '''KCNA5''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12.<ref>{{cite web | title = Entrez Gene: KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3741| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Gutman GA, Chandy KG, Grissmer S, ''et al.'' |title=International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 473-508 |year= 2006 |pmid= 16382104 |doi= 10.1124/pr.57.4.10 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on MEF2C... {November 8, 2007 3:44:13 PM PST}
- UPLOAD: Added new Image to wiki:
{November 8, 2007 3:45:28 PM PST}
- CREATE: Found no pages, creating new page. {November 8, 2007 3:45:36 PM PST}
- CREATED: Created new protein page: MEF2C {November 8, 2007 3:45:43 PM PST}
- INFO: Beginning work on NEFL... {November 8, 2007 3:45:43 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:47:07 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Neurofilament, light polypeptide 68kDa
| HGNCid = 7739
| Symbol = NEFL
| AltSymbols =; CMT1F; CMT2E; NF-L; NF68; NFL
| OMIM = 162280
| ECnumber =
| Homologene = 4487
| MGIid = 97313
| GeneAtlas_image1 = PBB_GE_NEFL_221805_at_tn.png
| GeneAtlas_image2 = PBB_GE_NEFL_221801_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_NEFL_221916_at_tn.png
| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0005200 |text = structural constituent of cytoskeleton}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005882 |text = intermediate filament}} {{GNF_GO|id=GO:0005883 |text = neurofilament}} {{GNF_GO|id=GO:0030424 |text = axon}}
| Process = {{GNF_GO|id=GO:0045104 |text = intermediate filament cytoskeleton organization and biogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4747
| Hs_Ensembl = ENSG00000104725
| Hs_RefseqProtein = NP_006149
| Hs_RefseqmRNA = NM_006158
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 8
| Hs_GenLoc_start = 24866240
| Hs_GenLoc_end = 24869946
| Hs_Uniprot = P07196
| Mm_EntrezGene = 18039
| Mm_Ensembl = ENSMUSG00000022055
| Mm_RefseqmRNA = NM_010910
| Mm_RefseqProtein = NP_035040
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 14
| Mm_GenLoc_start = 67037214
| Mm_GenLoc_end = 67041075
| Mm_Uniprot = Q05DD2
}}
}}
'''Neurofilament, light polypeptide 68kDa''', also known as '''NEFL''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Hirokawa N, Takeda S |title=Gene targeting studies begin to reveal the function of neurofilament proteins. |journal=J. Cell Biol. |volume=143 |issue= 1 |pages= 1-4 |year= 1998 |pmid= 9763415 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on OPTN... {November 8, 2007 3:59:41 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 4:00:51 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Optineurin
| HGNCid = 17142
| Symbol = OPTN
| AltSymbols =; NRP; FIP2; GLC1E; HIP7; HYPL; TFIIIA-INTP
| OMIM = 602432
| ECnumber =
| Homologene = 11085
| MGIid = 1918898
| GeneAtlas_image1 = PBB_GE_OPTN_202073_at_tn.png
| GeneAtlas_image2 = PBB_GE_OPTN_202074_s_at_tn.png
| Function = {{GNF_GO|id=GO:0008022 |text = protein C-terminus binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}}
| Process = {{GNF_GO|id=GO:0000042 |text = protein targeting to Golgi}} {{GNF_GO|id=GO:0007030 |text = Golgi organization and biogenesis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0008219 |text = cell death}} {{GNF_GO|id=GO:0043001 |text = Golgi to plasma membrane protein transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 10133
| Hs_Ensembl = ENSG00000123240
| Hs_RefseqProtein = NP_001008212
| Hs_RefseqmRNA = NM_001008211
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 13181455
| Hs_GenLoc_end = 13220297
| Hs_Uniprot = Q96CV9
| Mm_EntrezGene = 71648
| Mm_Ensembl = ENSMUSG00000026672
| Mm_RefseqmRNA = NM_181848
| Mm_RefseqProtein = NP_862896
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 4937914
| Mm_GenLoc_end = 4981210
| Mm_Uniprot = Q8K3K8
}}
}}
'''Optineurin''', also known as '''OPTN''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein.<ref>{{cite web | title = Entrez Gene: OPTN optineurin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10133| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Sarfarazi M, Rezaie T |title=Optineurin in primary open angle glaucoma. |journal=Ophthalmology clinics of North America |volume=16 |issue= 4 |pages= 529-41 |year= 2004 |pmid= 14740994 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PGK1... {November 8, 2007 3:47:07 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PGK1 image.jpg {November 8, 2007 3:48:25 PM PST}
- CREATE: Found no pages, creating new page. {November 8, 2007 3:48:43 PM PST}
- CREATED: Created new protein page: PGK1 {November 8, 2007 3:48:50 PM PST}
- INFO: Beginning work on PITX2... {November 8, 2007 3:48:50 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PITX2 image.jpg {November 8, 2007 3:49:22 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:49:57 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PITX2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1yz8.
| PDB = {{PDB2|1yz8}}
| Name = Paired-like homeodomain transcription factor 2
| HGNCid = 9005
| Symbol = PITX2
| AltSymbols =; PTX2; ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; MGC111022; MGC20144; Otlx2; RGS; RIEG; RIEG1; RS
| OMIM = 601542
| ECnumber =
| Homologene = 55454
| MGIid = 109340
| GeneAtlas_image1 = PBB_GE_PITX2_207558_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0008134 |text = transcription factor binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005667 |text = transcription factor complex}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007368 |text = determination of left/right symmetry}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5308
| Hs_Ensembl = ENSG00000164093
| Hs_RefseqProtein = NP_000316
| Hs_RefseqmRNA = NM_000325
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 4
| Hs_GenLoc_start = 111758031
| Hs_GenLoc_end = 111782566
| Hs_Uniprot = Q99697
| Mm_EntrezGene = 18741
| Mm_Ensembl = ENSMUSG00000028023
| Mm_RefseqmRNA = NM_001042502
| Mm_RefseqProtein = NP_001035967
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 3
| Mm_GenLoc_start = 129191965
| Mm_GenLoc_end = 129211613
| Mm_Uniprot = P97474
}}
}}
'''Paired-like homeodomain transcription factor 2''', also known as '''PITX2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. This protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. Mutations in this gene are associated with Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS), and sporadic cases of Peters anomaly. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes. This protein is involved in the development of the eye, tooth and abdominal organs. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Three transcript variants encoding distinct isoforms have been identified for this gene.<ref>{{cite web | title = Entrez Gene: PITX2 paired-like homeodomain transcription factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5308| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Franco D, Campione M |title=The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. |journal=Trends Cardiovasc. Med. |volume=13 |issue= 4 |pages= 157-63 |year= 2003 |pmid= 12732450 |doi= }}
*{{cite journal | author=Hjalt TA, Semina EV |title=Current molecular understanding of Axenfeld-Rieger syndrome. |journal=Expert reviews in molecular medicine |volume=7 |issue= 25 |pages= 1-17 |year= 2007 |pmid= 16274491 |doi= 10.1017/S1462399405010082 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on POLI... {November 8, 2007 4:00:51 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein POLI image.jpg {November 8, 2007 4:01:22 PM PST}
- CREATE: Found no pages, creating new page. {November 8, 2007 4:01:34 PM PST}
- CREATED: Created new protein page: POLI {November 8, 2007 4:01:41 PM PST}
- INFO: Beginning work on PSMA2... {November 8, 2007 3:50:52 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PSMA2 image.jpg {November 8, 2007 3:51:46 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:52:02 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PSMA2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1iru.
| PDB = {{PDB2|1iru}}
| Name = Proteasome (prosome, macropain) subunit, alpha type, 2
| HGNCid = 9531
| Symbol = PSMA2
| AltSymbols =; MU; HC3; PMSA2; PSC2
| OMIM = 176842
| ECnumber =
| Homologene = 2081
| MGIid = 104885
| GeneAtlas_image1 = PBB_GE_PSMA2_201317_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PSMA2_201316_at_tn.png
| Function = {{GNF_GO|id=GO:0004298 |text = threonine endopeptidase activity}}
| Component = {{GNF_GO|id=GO:0005829 |text = cytosol}} {{GNF_GO|id=GO:0005839 |text = proteasome core complex (sensu Eukaryota)}}
| Process = {{GNF_GO|id=GO:0006511 |text = ubiquitin-dependent protein catabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5683
| Hs_Ensembl = ENSG00000106588
| Hs_RefseqProtein = NP_002778
| Hs_RefseqmRNA = NM_002787
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 7
| Hs_GenLoc_start = 42922989
| Hs_GenLoc_end = 42938330
| Hs_Uniprot = P25787
| Mm_EntrezGene = 19166
| Mm_Ensembl = ENSMUSG00000015671
| Mm_RefseqmRNA = NM_008944
| Mm_RefseqProtein = NP_032970
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 13
| Mm_GenLoc_start = 14405380
| Mm_GenLoc_end = 14419533
| Mm_Uniprot = Q3UWT6
}}
}}
'''Proteasome (prosome, macropain) subunit, alpha type, 2''', also known as '''PSMA2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit.<ref>{{cite web | title = Entrez Gene: PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5683| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Coux O, Tanaka K, Goldberg AL |title=Structure and functions of the 20S and 26S proteasomes. |journal=Annu. Rev. Biochem. |volume=65 |issue= |pages= 801-47 |year= 1996 |pmid= 8811196 |doi= 10.1146/annurev.bi.65.070196.004101 }}
*{{cite journal | author=Goff SP |title=Death by deamination: a novel host restriction system for HIV-1. |journal=Cell |volume=114 |issue= 3 |pages= 281-3 |year= 2003 |pmid= 12914693 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PTPRF... {November 8, 2007 3:52:02 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PTPRF image.jpg {November 8, 2007 3:53:10 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:53:26 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PTPRF_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1lar.
| PDB = {{PDB2|1lar}}, {{PDB2|2dju}}, {{PDB2|2dn7}}
| Name = Protein tyrosine phosphatase, receptor type, F
| HGNCid = 9670
| Symbol = PTPRF
| AltSymbols =; FLJ43335; FLJ45062; FLJ45567; LAR
| OMIM = 179590
| ECnumber =
| Homologene = 20623
| MGIid = 102695
| GeneAtlas_image1 = PBB_GE_PTPRF_200636_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PTPRF_200635_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_PTPRF_200637_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004725 |text = protein tyrosine phosphatase activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005001 |text = transmembrane receptor protein tyrosine phosphatase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006470 |text = protein amino acid dephosphorylation}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007185 |text = transmembrane receptor protein tyrosine phosphatase signaling pathway}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5792
| Hs_Ensembl = ENSG00000142949
| Hs_RefseqProtein = NP_002831
| Hs_RefseqmRNA = NM_002840
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 1
| Hs_GenLoc_start = 43769134
| Hs_GenLoc_end = 43861924
| Hs_Uniprot = P10586
| Mm_EntrezGene = 19268
| Mm_Ensembl = ENSMUSG00000033295
| Mm_RefseqmRNA = NM_011213
| Mm_RefseqProtein = NP_035343
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 4
| Mm_GenLoc_start = 117707733
| Mm_GenLoc_end = 117775378
| Mm_Uniprot =
}}
}}
'''Protein tyrosine phosphatase, receptor type, F''', also known as '''PTPRF''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.<ref>{{cite web | title = Entrez Gene: PTPRF protein tyrosine phosphatase, receptor type, F| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5792| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Chernoff J |title=Protein tyrosine phosphatases as negative regulators of mitogenic signaling. |journal=J. Cell. Physiol. |volume=180 |issue= 2 |pages= 173-81 |year= 1999 |pmid= 10395287 |doi= 10.1002/(SICI)1097-4652(199908)180:2<173::AID-JCP5>3.0.CO;2-Y }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PYCARD... {November 8, 2007 4:01:41 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PYCARD image.jpg {November 8, 2007 4:02:20 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 4:03:19 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PYCARD_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1ucp.
| PDB = {{PDB2|1ucp}}
| Name = PYD and CARD domain containing
| HGNCid = 16608
| Symbol = PYCARD
| AltSymbols =; ASC; CARD5; MGC10332; TMS1
| OMIM = 606838
| ECnumber =
| Homologene = 8307
| MGIid = 1931465
| GeneAtlas_image1 = PBB_GE_PYCARD_221666_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008656 |text = caspase activator activity}} {{GNF_GO|id=GO:0030693 |text = caspase activity}} {{GNF_GO|id=GO:0032090 |text = Pyrin domain binding}} {{GNF_GO|id=GO:0042803 |text = protein homodimerization activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005829 |text = cytosol}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0006917 |text = induction of apoptosis}} {{GNF_GO|id=GO:0006919 |text = caspase activation}} {{GNF_GO|id=GO:0006954 |text = inflammatory response}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}} {{GNF_GO|id=GO:0050718 |text = positive regulation of interleukin-1 beta secretion}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 29108
| Hs_Ensembl = ENSG00000103490
| Hs_RefseqProtein = NP_037390
| Hs_RefseqmRNA = NM_013258
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 16
| Hs_GenLoc_start = 31120310
| Hs_GenLoc_end = 31121512
| Hs_Uniprot = Q9ULZ3
| Mm_EntrezGene = 66824
| Mm_Ensembl = ENSMUSG00000030793
| Mm_RefseqmRNA = NM_023258
| Mm_RefseqProtein = NP_075747
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 127783251
| Mm_GenLoc_end = 127784895
| Mm_Uniprot = Q54AA2
}}
}}
'''PYD and CARD domain containing''', also known as '''PYCARD''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: PYCARD PYD and CARD domain containing| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29108| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on RAC2... {November 8, 2007 3:53:26 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein RAC2 image.jpg {November 8, 2007 3:53:57 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:54:11 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_RAC2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1ds6.
| PDB = {{PDB2|1ds6}}, {{PDB2|1e96}}, {{PDB2|1foe}}, {{PDB2|1g4u}}, {{PDB2|1he1}}, {{PDB2|1hh4}}, {{PDB2|1i4d}}, {{PDB2|1i4l}}, {{PDB2|1i4t}}, {{PDB2|1mh1}}, {{PDB2|2fju}}, {{PDB2|2g0n}}, {{PDB2|2h7v}}, {{PDB2|2ic5}}, {{PDB2|2nz8}}, {{PDB2|2ov2}}, {{PDB2|2p2l}}
| Name = Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
| HGNCid = 9802
| Symbol = RAC2
| AltSymbols =; EN-7; Gx; HSPC022
| OMIM = 602049
| ECnumber =
| Homologene = 55699
| MGIid = 97846
| GeneAtlas_image1 = PBB_GE_RAC2_213603_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003924 |text = GTPase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005635 |text = nuclear envelope}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006935 |text = chemotaxis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}} {{GNF_GO|id=GO:0030031 |text = cell projection biogenesis}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5880
| Hs_Ensembl = ENSG00000128340
| Hs_RefseqProtein = NP_002863
| Hs_RefseqmRNA = NM_002872
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 22
| Hs_GenLoc_start = 35951238
| Hs_GenLoc_end = 35970241
| Hs_Uniprot = P15153
| Mm_EntrezGene = 19354
| Mm_Ensembl = ENSMUSG00000033220
| Mm_RefseqmRNA = XM_001000836
| Mm_RefseqProtein = XP_001000836
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 78386424
| Mm_GenLoc_end = 78400038
| Mm_Uniprot = Q8CEV8
}}
}}
'''Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)''', also known as '''RAC2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases.<ref>{{cite web | title = Entrez Gene: RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5880| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on RXRB... {November 8, 2007 3:54:11 PM PST}
- UPLOAD: Added new Image to wiki:
{November 8, 2007 3:55:19 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:55:37 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_RXRB_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1by4.
| PDB = {{PDB2|1by4}}, {{PDB2|1dsz}}, {{PDB2|1h9u}}, {{PDB2|1r0n}}, {{PDB2|1rxr}}, {{PDB2|1uhl}}, {{PDB2|2nll}}
| Name = Retinoid X receptor, beta
| HGNCid = 10478
| Symbol = RXRB
| AltSymbols =; DAUDI6; H-2RIIBP; MGC1831; NR2B2; RCoR-1
| OMIM = 180246
| ECnumber =
| Homologene = 7923
| MGIid = 98215
| GeneAtlas_image1 = PBB_GE_RXRB_209148_at_tn.png
| GeneAtlas_image2 = PBB_GE_RXRB_215099_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_RXRB_215098_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003706 |text = ligand-regulated transcription factor activity}} {{GNF_GO|id=GO:0003707 |text = steroid hormone receptor activity}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0004886 |text = retinoid-X receptor activity}} {{GNF_GO|id=GO:0005496 |text = steroid binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016439 |text = tRNA-pseudouridine synthase activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6257
| Hs_Ensembl = ENSG00000204231
| Hs_RefseqProtein = NP_068811
| Hs_RefseqmRNA = NM_021976
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 6
| Hs_GenLoc_start = 33269343
| Hs_GenLoc_end = 33276417
| Hs_Uniprot = P28702
| Mm_EntrezGene = 20182
| Mm_Ensembl = ENSMUSG00000039656
| Mm_RefseqmRNA = NM_011306
| Mm_RefseqProtein = NP_035436
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 33642306
| Mm_GenLoc_end = 33648853
| Mm_Uniprot = Q3TWJ1
}}
}}
'''Retinoid X receptor, beta''', also known as '''RXRB''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). This receptor forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. The gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined.<ref>{{cite web | title = Entrez Gene: RXRB retinoid X receptor, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6257| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Szanto A, Narkar V, Shen Q, ''et al.'' |title=Retinoid X receptors: X-ploring their (patho)physiological functions. |journal=Cell Death Differ. |volume=11 Suppl 2 |issue= |pages= S126-43 |year= 2005 |pmid= 15608692 |doi= 10.1038/sj.cdd.4401533 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SERPINA6... {November 8, 2007 3:38:44 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:39:16 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
| HGNCid = 1540
| Symbol = SERPINA6
| AltSymbols =; CBG
| OMIM = 122500
| ECnumber =
| Homologene = 20417
| MGIid = 88278
| GeneAtlas_image1 = PBB_GE_SERPINA6_206325_at_tn.png
| Function = {{GNF_GO|id=GO:0004867 |text = serine-type endopeptidase inhibitor activity}} {{GNF_GO|id=GO:0005496 |text = steroid binding}} {{GNF_GO|id=GO:0008289 |text = lipid binding}}
| Component =
| Process = {{GNF_GO|id=GO:0006810 |text = transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 866
| Hs_Ensembl = ENSG00000170099
| Hs_RefseqProtein = NP_001747
| Hs_RefseqmRNA = NM_001756
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 14
| Hs_GenLoc_start = 93840339
| Hs_GenLoc_end = 93859441
| Hs_Uniprot = P08185
| Mm_EntrezGene = 12401
| Mm_Ensembl = ENSMUSG00000060807
| Mm_RefseqmRNA = NM_007618
| Mm_RefseqProtein = NP_031644
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 12
| Mm_GenLoc_start = 104047683
| Mm_GenLoc_end = 104058140
| Mm_Uniprot = Q3UKW1
}}
}}
'''Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6''', also known as '''SERPINA6''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events.<ref>{{cite web | title = Entrez Gene: SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=866| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SLC1A2... {November 8, 2007 3:55:37 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:56:19 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Solute carrier family 1 (glial high affinity glutamate transporter), member 2
| HGNCid = 10940
| Symbol = SLC1A2
| AltSymbols =; EAAT2; GLT-1
| OMIM = 600300
| ECnumber =
| Homologene = 3075
| MGIid = 101931
| GeneAtlas_image1 = PBB_GE_SLC1A2_208389_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005313 |text = L-glutamate transmembrane transporter activity}} {{GNF_GO|id=GO:0015293 |text = symporter activity}} {{GNF_GO|id=GO:0017153 |text = sodium:dicarboxylate symporter activity}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006835 |text = dicarboxylic acid transport}} {{GNF_GO|id=GO:0007268 |text = synaptic transmission}} {{GNF_GO|id=GO:0015813 |text = glutamate transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6506
| Hs_Ensembl = ENSG00000110436
| Hs_RefseqProtein = NP_004162
| Hs_RefseqmRNA = NM_004171
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 35229329
| Hs_GenLoc_end = 35397372
| Hs_Uniprot = P43004
| Mm_EntrezGene = 20511
| Mm_Ensembl = ENSMUSG00000005089
| Mm_RefseqmRNA = NM_001077514
| Mm_RefseqProtein = NP_001070982
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 102459499
| Mm_GenLoc_end = 102582993
| Mm_Uniprot = Q3USU5
}}
}}
'''Solute carrier family 1 (glial high affinity glutamate transporter), member 2''', also known as '''SLC1A2''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known.<ref>{{cite web | title = Entrez Gene: SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6506| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SMN1... {November 8, 2007 3:56:19 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:56:57 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_SMN1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1g5v.
| PDB = {{PDB2|1g5v}}, {{PDB2|1mhn}}
| Name = Survival of motor neuron 1, telomeric
| HGNCid = 11117
| Symbol = SMN1
| AltSymbols =; SMN; BCD541; SMA1; SMA2; SMA3; SMA4; SMNT; T-BCD541; C-BCD541; SMNC
| OMIM = 600354
| ECnumber =
| Homologene = 292
| MGIid = 109257
| Function = {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0015030 |text = Cajal body}}
| Process = {{GNF_GO|id=GO:0000245 |text = spliceosome assembly}} {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6606
| Hs_Ensembl =
| Hs_RefseqProtein = XP_001126655
| Hs_RefseqmRNA = XM_001126655
| Hs_GenLoc_db =
| Hs_GenLoc_chr =
| Hs_GenLoc_start =
| Hs_GenLoc_end =
| Hs_Uniprot =
| Mm_EntrezGene = 20595
| Mm_Ensembl = ENSMUSG00000021645
| Mm_RefseqmRNA = NM_011420
| Mm_RefseqProtein = NP_035550
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 13
| Mm_GenLoc_start = 101225134
| Mm_GenLoc_end = 101237947
| Mm_Uniprot = Q3UMN7
}}
}}
'''Survival of motor neuron 1, telomeric''', also known as '''SMN1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants are produced by this gene.<ref>{{cite web | title = Entrez Gene: SMN1 survival of motor neuron 1, telomeric| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6606| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Hausmanowa-Petrusewicz I, Jedrzejowska M |title=Spinal muscular atrophy of childhood at the edge of the centuries. |journal=Funct. Neurol. |volume=16 |issue= 4 Suppl |pages= 247-53 |year= 2002 |pmid= 11996521 |doi= }}
*{{cite journal | author=Paushkin S, Gubitz AK, Massenet S, Dreyfuss G |title=The SMN complex, an assemblyosome of ribonucleoproteins. |journal=Curr. Opin. Cell Biol. |volume=14 |issue= 3 |pages= 305-12 |year= 2002 |pmid= 12067652 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SNRPB... {November 8, 2007 3:56:57 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein SNRPB image.jpg {November 8, 2007 3:57:48 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:58:09 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_SNRPB_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1d3b.
| PDB = {{PDB2|1d3b}}
| Name = Small nuclear ribonucleoprotein polypeptides B and B1
| HGNCid = 11153
| Symbol = SNRPB
| AltSymbols =; SNRPB1; COD; SmB/SmB'; snRNP-B
| OMIM = 182282
| ECnumber =
| Homologene = 21719
| MGIid = 98342
| GeneAtlas_image1 = PBB_GE_SNRPB_208821_at_tn.png
| GeneAtlas_image2 = PBB_GE_SNRPB_213175_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}} {{GNF_GO|id=GO:0030529 |text = ribonucleoprotein complex}} {{GNF_GO|id=GO:0030532 |text = small nuclear ribonucleoprotein complex}}
| Process = {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}} {{GNF_GO|id=GO:0016071 |text = mRNA metabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6628
| Hs_Ensembl = ENSG00000125835
| Hs_RefseqProtein = NP_003082
| Hs_RefseqmRNA = NM_003091
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 20
| Hs_GenLoc_start = 2390281
| Hs_GenLoc_end = 2399499
| Hs_Uniprot = P14678
| Mm_EntrezGene = 20638
| Mm_Ensembl = ENSMUSG00000027404
| Mm_RefseqmRNA = NM_009225
| Mm_RefseqProtein = NP_033251
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 129863076
| Mm_GenLoc_end = 129870844
| Mm_Uniprot = P27048
}}
}}
'''Small nuclear ribonucleoprotein polypeptides B and B1''', also known as '''SNRPB''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene.<ref>{{cite web | title = Entrez Gene: SNRPB small nuclear ribonucleoprotein polypeptides B and B1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6628| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Will CL, Lührmann R |title=Spliceosomal UsnRNP biogenesis, structure and function. |journal=Curr. Opin. Cell Biol. |volume=13 |issue= 3 |pages= 290-301 |year= 2001 |pmid= 11343899 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TRAF5... {November 8, 2007 3:58:09 PM PST}
- CREATE: Found no pages, creating new page. {November 8, 2007 3:58:47 PM PST}
- CREATED: Created new protein page: TRAF5 {November 8, 2007 3:58:55 PM PST}
- INFO: Beginning work on UMOD... {November 8, 2007 3:58:55 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 8, 2007 3:59:41 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)
| HGNCid = 12559
| Symbol = UMOD
| AltSymbols =; FJHN; ADMCKD2; HNFJ; MCKD2; THGP
| OMIM = 191845
| ECnumber =
| Homologene = 2522
| MGIid = 102674
| GeneAtlas_image1 = PBB_GE_UMOD_206716_at_tn.png
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0048503 |text = GPI anchor binding}}
| Component = {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0019898 |text = extrinsic to membrane}}
| Process = {{GNF_GO|id=GO:0006968 |text = cellular defense response}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7369
| Hs_Ensembl = ENSG00000169344
| Hs_RefseqProtein = NP_001008390
| Hs_RefseqmRNA = NM_001008389
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 16
| Hs_GenLoc_start = 20251875
| Hs_GenLoc_end = 20271533
| Hs_Uniprot = P07911
| Mm_EntrezGene = 22242
| Mm_Ensembl = ENSMUSG00000030963
| Mm_RefseqmRNA = NM_009470
| Mm_RefseqProtein = NP_033496
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 119254013
| Mm_GenLoc_end = 119270404
| Mm_Uniprot = Q8CJA0
}}
}}
'''Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)''', also known as '''UMOD''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform.<ref>{{cite web | title = Entrez Gene: UMOD uromodulin (uromucoid, Tamm-Horsfall glycoprotein)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7369| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Scolari F, Viola BF, Ghiggeri GM, ''et al.'' |title=Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. |journal=J. Nephrol. |volume=16 |issue= 3 |pages= 321-8 |year= 2003 |pmid= 12832729 |doi= }}
}}
{{refend}}
{{protein-stub}}
end log.
