DNASE1L3

Last updated
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
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 Mb Chr 14: 14.48 – 14.51 Mb
PubMed search [3] [4]
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]

Related Research Articles

Deoxyribonuclease refers to a group of glycoprotein endonucleases which are enzymes that catalyze the hydrolytic cleavage of phosphodiester linkages in the DNA backbone, thus degrading DNA. The role of the DNase enzyme in cells includes breaking down extracellular DNA (ecDNA) excreted by apoptosis, necrosis, and neutrophil extracellular traps (NET) of cells to help reduce inflammatory responses that otherwise are elicited. A wide variety of deoxyribonucleases are known and fall into one of two families, which differ in their substrate specificities, chemical mechanisms, and biological functions. Laboratory applications of DNase include purifying proteins when extracted from prokaryotic organisms. Additionally, DNase has been applied as a treatment for diseases that are caused by ecDNA in the blood plasma. Assays of DNase are emerging in the research field as well.

<span class="mw-page-title-main">Deoxyribonuclease I</span> Protein-coding gene in the species Homo sapiens

Deoxyribonuclease I, is an endonuclease of the DNase family coded by the human gene DNASE1. DNase I is a nuclease that cleaves DNA preferentially at phosphodiester linkages adjacent to a pyrimidine nucleotide, yielding 5'-phosphate-terminated polynucleotides with a free hydroxyl group on position 3', on average producing tetranucleotides. It acts on single-stranded DNA, double-stranded DNA, and chromatin. In addition to its role as a waste-management endonuclease, it has been suggested to be one of the deoxyribonucleases responsible for DNA fragmentation during apoptosis.

Deoxyribonuclease II is an endonuclease that hydrolyzes phosphodiester linkages of deoxyribonucleotide in native and denatured DNA, yielding products with 3'-phosphates and 5'-hydroxyl ends, which occurs as a result of single-strand cleaving mechanism. As the name implies, it functions optimally at acid pH because it is commonly found in low pH environment of lysosomes.

Deoxyribonuclease IV (phage-T4-induced) is catalyzes the degradation nucleotides in DsDNA by attacking the 5'-terminal end.

<span class="mw-page-title-main">Estrogen-related receptor gamma</span> Protein-coding gene in the species Homo sapiens

Estrogen-related receptor gamma (ERR-gamma), also known as NR3B3, is a nuclear receptor that in humans is encoded by the ESRRG gene. It behaves as a constitutive activator of transcription.

<span class="mw-page-title-main">P2RY6</span> Protein-coding gene in the species Homo sapiens

P2Y purinoceptor 6 is a protein that in humans is encoded by the P2RY6 gene.

<span class="mw-page-title-main">PRKCI</span> Protein-coding gene in the species Homo sapiens

Protein kinase C iota type is an enzyme that in humans is encoded by the PRKCI gene.

<span class="mw-page-title-main">SULT1A1</span> Protein-coding gene in the species Homo sapiens

Sulfotransferase 1A1 is an enzyme that in humans is encoded by the SULT1A1 gene.

<span class="mw-page-title-main">GCLC</span> Protein-coding gene in the species Homo sapiens

Glutamate—cysteine ligase catalytic subunit is an enzyme that in humans is encoded by the GCLC gene.

<span class="mw-page-title-main">DFFA</span> Protein-coding gene in the species Homo sapiens

DNA fragmentation factor subunit alpha (DFFA), also known as Inhibitor of caspase-activated DNase (ICAD), is a protein that in humans is encoded by the DFFA gene.

<span class="mw-page-title-main">PAX4</span> Protein-coding gene in humans

Paired box gene 4, also known as PAX4, is a protein which in humans is encoded by the PAX4 gene.

<span class="mw-page-title-main">DNASE1L1</span> Protein-coding gene in the species Homo sapiens

Deoxyribonuclease-1-like 1 is an enzyme that in humans is encoded by the DNASE1L1 gene. It is also known as DNaseX due to its localisation on the X chromosome.

TGFB1-induced anti-apoptotic factor 1 is a protein that in humans is encoded by the TIAF1 gene.

<span class="mw-page-title-main">RIPK3</span> Protein-coding gene in the species Homo sapiens

Receptor-interacting serine/threonine-protein kinase 3 is an enzyme that is encoded by the RIPK3 gene in humans.

<span class="mw-page-title-main">ENDOG</span> Protein-coding gene in the species Homo sapiens

Endonuclease G, mitochondrial is an enzyme that in humans is encoded by the ENDOG gene. This protein primarily participates in caspase-independent apoptosis via DNA degradation when translocating from the mitochondrion to nucleus under oxidative stress. As a result, EndoG has been implicated in cancer, aging, and neurodegenerative diseases such as Parkinson’s disease (PD). Regulation of its expression levels thus holds potential to treat or ameliorate those conditions.

<span class="mw-page-title-main">AIFM2</span> Protein-coding gene in the species Homo sapiens

Apoptosis-inducing factor 2 (AIFM2), also known as apoptosis-inducing factor-homologous mitochondrion-associated inducer of death (AMID), is a protein that in humans is encoded by the AIFM2 gene, also known as p53-responsive gene 3 (PRG3), on chromosome 10.

<span class="mw-page-title-main">Apoptotic DNA fragmentation</span> Cleavage of DNA into tiny pieces during apoptosis

Apoptotic DNA fragmentation is a key feature of apoptosis, a type of programmed cell death. Apoptosis is characterized by the activation of endogenous endonucleases, particularly the caspase-3 activated DNase (CAD), with subsequent cleavage of nuclear DNA into internucleosomal fragments of roughly 180 base pairs (bp) and multiples thereof (360, 540 etc.). The apoptotic DNA fragmentation is being used as a marker of apoptosis and for identification of apoptotic cells either via the DNA laddering assay, the TUNEL assay, or the by detection of cells with fractional DNA content ("sub G1 cells") on DNA content frequency histograms e.g. as in the Nicoletti assay.

<span class="mw-page-title-main">DNASE1L2</span> Protein-coding gene in the species Homo sapiens

Deoxyribonuclease-1-like 2 is an enzyme that in humans is encoded by the DNASE1L2 gene.

<span class="mw-page-title-main">Caspase-activated DNase</span> Protein-coding gene in the species Homo sapiens

Caspase-activated DNase (CAD) or DNA fragmentation factor subunit beta is a protein that in humans is encoded by the DFFB gene. It breaks up the DNA during apoptosis and promotes cell differentiation. It is usually an inactive monomer inhibited by ICAD. This is cleaved before dimerization.

<span class="mw-page-title-main">Deoxyribonuclease 2 beta</span> Protein-coding gene in the species Homo sapiens

Deoxyribonuclease 2 beta is a protein that in humans is encoded by the DNASE2B gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163687 - Ensembl, May 2017
  2. 1 2 3 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.
  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. 1 2 "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