DNASE1L3

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DNASE1L3
Identifiers
AliasesDNASE1L3, DHP2, DNAS1L3, LSD, SLEB16, deoxyribonuclease I like 3, deoxyribonuclease 1 like 3
External IDsOMIM: 602244 MGI: 1314633 HomoloGene: 3630 GeneCards: DNASE1L3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004944
NM_001256560

NM_007870

RefSeq (protein)

NP_001243489
NP_004935

NP_031896

Location (UCSC)Chr 3: 58.19 – 58.21 MbChr 14: 14.48 – 14.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Deoxyribonuclease gamma is an enzyme that in humans is encoded by the DNASE1L3 gene.[5][6][7][8]

This gene encodes a member of the DNase family. The protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.[8]

Homozygosity for a null allele results in systemic lupus erythematosus.[9] A loss of function allele in DNASE1L3 is associated with rheumatoid arthritis.[10]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163687Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025279Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Rodriguez AM, Rodin D, Nomura H, Morton CC, Weremowicz S, Schneider MC (June 1997). "Identification, localization, and expression of two novel human genes similar to deoxyribonuclease I". Genomics. 42 (3): 507–13. doi:10.1006/geno.1997.4748. PMID 9205125.
  6. ^ Baron WF, Pan CQ, Spencer SA, Ryan AM, Lazarus RA, Baker KP (July 1998). "Cloning and characterization of an actin-resistant DNase I-like endonuclease secreted by macrophages". Gene. 215 (2): 291–301. doi:10.1016/S0378-1119(98)00281-9. PMID 9714828.
  7. ^ Shiokawa D, Hirai M, Tanuma S (March 1998). "cDNA cloning of human DNase gamma: chromosomal localization of its gene and enzymatic properties of recombinant protein". Apoptosis. 3 (2): 89–95. doi:10.1023/A:1009692807692. PMID 14646506. S2CID 2071259.
  8. ^ a b "Entrez Gene: DNASE1L3 deoxyribonuclease I-like 3".
  9. ^ Al-Mayouf SM, Sunker A, Abdwani R, Abrawi SA, Almurshedi F, Alhashmi N, et al. (October 2011). "Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus". Nature Genetics. 43 (12): 1186–8. doi:10.1038/ng.975. PMID 22019780. S2CID 205358301.
  10. ^ Westra HJ, Martínez-Bonet M, Onengut-Gumuscu S, Lee A, Luo Y, Teslovich N, et al. (October 2018). "Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes". Nature Genetics. 50 (10): 1366–1374. doi:10.1038/s41588-018-0216-7. PMC 6364548. PMID 30224649.

Further reading[edit]