PAXBP1

PAXBP1
Identifiers
Aliases	PAXBP1, BM020, C21orf66, FSAP105, GCFC, GCFC1, PAX3 and PAX7 binding protein 1
External IDs	OMIM: 617621 MGI: 1914617 HomoloGene: 9604 GeneCards: PAXBP1
Gene location (Human) Chr. Chromosome 21 (human) Band 21q22.11 Start 32,733,899 bp End 32,771,792 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 C3.3 Start 90,810,925 bp End 90,841,431 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve sperm right uterine tube Achilles tendon tibia corpus callosum jejunal mucosa ganglionic eminence germinal epithelium body of pancreas Top expressed in cerebellar cortex cerebellar vermis thymus dermis retinal pigment epithelium spermatid vas deferens superior frontal gyrus abdominal wall body of femur More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding transcription factor binding DNA-binding transcription factor activity DNA-binding transcription repressor activity, RNA polymerase II-specific DNA binding Cellular component nucleus cytosol Biological process positive regulation of transcription by RNA polymerase II regulation of skeletal muscle satellite cell proliferation regulation of transcription, DNA-templated muscle organ development positive regulation of myoblast proliferation positive regulation of histone methylation transcription, DNA-templated negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 94104 67367 Ensembl ENSG00000159086 ENSG00000263141 ENSMUSG00000022974 UniProt Q9Y5B6 P58501 RefSeq (mRNA) NM_013329 NM_016631 NM_058191 NM_145328 NM_026110 RefSeq (protein) NP_037461 NP_057715 NP_080386 Location (UCSC) Chr 21: 32.73 – 32.77 Mb Chr 16: 90.81 – 90.84 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene.

Similarity to a transcriptional repressor suggests that this gene's protein product is involved in the regulation of transcription. Alternative splicing of this gene results in three transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined.

External links

• Human PAXBP1 genome location and PAXBP1 gene details page in the UCSC Genome Browser.

Further reading

• Slavov D, Hattori M, Sakaki Y, et al. (2000). "Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21". Gene. 247 (1–2): 215–32. doi:10.1016/S0378-1119(00)00089-5. PMID 10773462.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.