DNASE1L3

DNASE1L3
Identifiers
Aliases	DNASE1L3, DHP2, DNAS1L3, LSD, SLEB16, deoxyribonuclease I like 3, deoxyribonuclease 1 like 3
External IDs	OMIM: 602244 MGI: 1314633 HomoloGene: 3630 GeneCards: DNASE1L3
Gene location (Human)
Chr.	Chromosome 3 (human)[1]
End	58,214,697 bp[1]
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)[2]
End	14,505,240 bp[2]
RNA expression pattern
	Top expressed in
	periodontal fiber; ; spleen; ; cancellous bone; ; liver; ; right lobe of liver; ; right adrenal gland; ; appendix; ; rectum; ; palpebral conjunctiva; ; synovial joint;
	Top expressed in
	left lobe of liver; ; spleen; ; placenta; ; lip; ; thymus; ; secondary oocyte; ; esophagus; ; jejunum; ; subcutaneous adipose tissue; ; duodenum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; calcium ion binding; nuclease activity; endonuclease activity; endodeoxyribonuclease activity; hydrolase activity; deoxyribonuclease activity; deoxyribonuclease I activity;
Cellular component	extracellular region; endoplasmic reticulum; nucleus;
Biological process	DNA metabolic process; DNA catabolic process; programmed cell death involved in cell development; apoptotic process; programmed cell death; apoptotic DNA fragmentation; DNA catabolic process, endonucleolytic; neutrophil activation involved in immune response; regulation of acute inflammatory response; regulation of neutrophil mediated cytotoxicity;
	Sources:Amigo / QuickGO
Orthologs
	1776
	13421
	ENSG00000163687
	ENSMUSG00000025279
	Q13609
	O55070
	NM_004944; NM_001256560
	NM_007870
	NP_001243489; NP_004935
	NP_031896
	Wikidata
View/Edit Human	View/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

GRCh38: Ensembl release 89: ENSG00000163687 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000025279 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
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.
"Entrez Gene: DNASE1L3 deoxyribonuclease I-like 3".
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.
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.

Tanuma S, Shiokawa D (September 1994). "Multiple forms of nuclear deoxyribonuclease in rat thymocytes". Biochemical and Biophysical Research Communications. 203 (2): 789–97. doi:10.1006/bbrc.1994.2252. PMID 8093058.
Zeng Z, Parmelee D, Hyaw H, Coleman TA, Su K, Zhang J, et al. (February 1997). "Cloning and characterization of a novel human DNase". Biochemical and Biophysical Research Communications. 231 (2): 499–504. doi:10.1006/bbrc.1996.5923. PMID 9070308.
Shiokawa D, Tanuma S (January 2001). "Characterization of human DNase I family endonucleases and activation of DNase gamma during apoptosis". Biochemistry. 40 (1): 143–52. doi:10.1021/bi001041a. PMID 11141064.
Wilber A, Lu M, Schneider MC (July 2002). "Deoxyribonuclease I-like III is an inducible macrophage barrier to liposomal transfection". Molecular Therapy. 6 (1): 35–42. doi:10.1006/mthe.2002.0625. PMID 12095301.
Boulares AH, Zoltoski AJ, Sherif ZA, Yakovlev AG, Smulson ME (August 2002). "The Poly(ADP-ribose) polymerase-1-regulated endonuclease DNAS1L3 is required for etoposide-induced internucleosomal DNA fragmentation and increases etoposide cytotoxicity in transfected osteosarcoma cells". Cancer Research. 62 (15): 4439–44. PMID 12154052.
Shiokawa D, Shika Y, Tanuma S (December 2003). "Identification of two functional nuclear localization signals in DNase gamma and their roles in its apoptotic DNase activity". The Biochemical Journal. 376 (Pt 2): 377–81. doi:10.1042/BJ20030820. PMC 1223774. PMID 12943533.
Boulares AH, Ren T (January 2004). "Mechanism of acetaminophen-induced apoptosis in cultured cells: roles of caspase-3, DNA fragmentation factor, and the Ca2+ and Mg2+ endonuclease DNAS1L3". Basic & Clinical Pharmacology & Toxicology. 94 (1): 19–29. doi:10.1111/j.1742-7843.2004.pto_940105.x. PMID 14725611.
Okamoto M, Okamoto N, Yashiro H, Shiokawa D, Sunaga S, Yoshimori A, et al. (February 2005). "Involvement of DNase gamma in the resected double-strand DNA breaks in immunoglobulin genes". Biochemical and Biophysical Research Communications. 327 (1): 76–83. doi:10.1016/j.bbrc.2004.11.142. PMID 15629432.
Boulares H, Zoltoski A, Kandan S, Akbulut T, Yakovlev A, Oumouna M (March 2006). "Correlation between decreased sensitivity of the Daudi lymphoma cells to VP-16-induced apoptosis and deficiency in DNAS1L3 expression". Biochemical and Biophysical Research Communications. 341 (2): 653–62. doi:10.1016/j.bbrc.2006.01.014. PMID 16427601.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163687 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025279 - Ensembl, 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.

[pmid9205125-5] 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.

[pmid9714828-6] 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.

[pmid14646506-7] 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.

[entrez-8] "Entrez Gene: DNASE1L3 deoxyribonuclease I-like 3".

[Al-MayoufSunker2011-9] 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.

DNASE1L3

References

Further reading