DNASE1L3 - deoxyribonuclease 1 like 3 Gene
Also Known as LSD; DHP2; SLEB16; DNAS1L3
Species: Homo sapiens
About DNASE1L3
This gene has 7 transcripts (splice variants), 154 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in spleen (RPKM 118.4), liver (RPKM 61.9) and 11 other tissues.
Summary
This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during Apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
DNASE1L3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001256560.2 | NP_001243489.1 | deoxyribonuclease gamma isoform 2 precursor |
| NM_004944.4 | NP_004935.1 | deoxyribonuclease gamma isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in apoptotic DNA fragmentation |
IDA
IDA: Inferred from direct assay
|
23229555 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
23229555 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
23229555 | GOA |
DNASE1L3 Protein Structure
Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (25 - 274)
- 0
- 100
- 200
- 305 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
deoxyribonuclease gamma |
|
DNASE1L3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNASE1L3 | Q13609 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
DNASE1L3 | Q13609 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
DNASE1L3 | Q13609 | KRTAP5-9 | Homo sapiens | P26371 | 32296183 | |
|
Intra
|
DNASE1L3 | Q13609 | KRTAP5-9 | Homo sapiens | P26371 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Systemic Lupus Erythematosus 16 |
|
|
| Hypocomplementemic Urticarial Vasculitis |
|
|
| Lupus Erythematosus |
|
|
| Systemic Lupus Erythematosus |
|
|
| Lymphadenitis |
|
|
| Chilblain Lupus 1 |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
|
| Aicardi-Goutieres Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DNASE1L3 | RGD | RGD:620669 |
| Bos taurus | DNASE1L3 | VGNC | VGNC:28135 |
| Felis catus | DNASE1L3 | VGNC | VGNC:61554 |
| Canis familiaris | DNASE1L3 | VGNC | VGNC:40025 |
| Mus musculus | DNASE1L3 | MGD | MGI:1314633 |
| Macaca mulatta | DNASE1L3 | VGNC | VGNC:71949 |
| Others | DNASE1L3 | NCBI |