DNASE1L3 - deoxyribonuclease 1 like 3 Gene

Also Known as LSD; DHP2; SLEB16; DNAS1L3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1776

About DNASE1L3

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,192,257-58,210,972 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNASE1L3 Protein Structure

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (25 - 274)

  • 0
  • 100
  • 200
  • 305 a.a.
Protein Preferred Names Protein Names

deoxyribonuclease gamma

  • DNase I homolog protein 2

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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Systemic Lupus Erythematosus 16
  • SLEB16

  • Autosomal Systemic Lupus Erythematosus

  • Autosomal Sle

  • Familial Sle

  • Familial Systemic Lupus Erythematosus

  • Lupus Erythematosus, Systemic, Type 16

Hypocomplementemic Urticarial Vasculitis
  • Anti-C1q Vasculitis

  • Mac Duffie Hypocomplementemic Urticarial Vasculitis

  • Mac Duffie Syndrome

  • Mcduffie Hypocomplementemic Urticarial Vasculitis

  • Mcduffie Syndrome

Lupus Erythematosus
  • Lupus

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus, Systemic

  • Subacute Cutaneous Lupus

  • Le - [Lupus Erythematosus]

Systemic Lupus Erythematosus
  • Lupus Nephritis

  • SLE

  • Disseminated Lupus Erythematosus

  • Systemic Lupus Erythematosus, Susceptibility To

  • Lupus Erythematosus, Systemic

  • Lupus Nephritis, Susceptibility To

  • Libman-Sacks Disease

  • Systemic Lupus Erythematosus Susceptibility To

  • Sle - Lupus Erythematosus, Systemic

  • Le Syndrome

  • Lupus

  • Lupus Erythematosus Systemic

  • Lupus Erythematosus, Systemic, Susceptibility To

  • Lupus Vulgaris

  • Lupus Erythematosus, Discoid

  • Lupus Erythematosus

  • Systemic Lupus Erythematosus Nos

  • Sle - [Systemic Lupus Erythematosus]

Lymphadenitis
  • Acute Lymphadenitis

  • Chronic Lymphadenitis

  • Adenitis

  • Chronic Adenitis

  • Acute Adenitis

  • Inflammation Of Lymph Node

  • Adenitis Nos

  • Inflammation Of Gland

  • Lymphatic Gland Inflammation

  • Lymph Gland Inflammation

  • Polyadenitis

  • Chronic Adenitis Of Any Lymph Node Except Mesenteric

  • Chronic Lymphadenitis Except Mesenteric

  • Chronic Non-Specific Lymphadenitis

Chilblain Lupus 1
  • Chilblain Lupus

  • CHBL1

  • Chilblain Lupus Erythematosus

  • Chle

  • Hutchinson Lupus

  • Chilblain Lupus, Type 1

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
  • Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

  • Crv

  • Rvcl

  • Rvcl-S

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy

  • Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

  • Retinal Vasculopathy With Cerebral Leukodystrophy

  • Retinal Vasculopathy And Cerebral Leukoencephalopathy

  • Hereditary Vascular Retinopathy

  • Hvr

  • RVCLS

  • Cerebroretinal Vasculopathy, Hereditary

  • Cerebroretinal Vasculopathy

  • Herns

  • Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

  • Hereditary Cerebroretinal Vasculopathy

  • Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

  • Hereditary Systemic Angiopathy

  • Hsa

  • Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

  • Adrvcl

  • Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

  • Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

  • Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Aicardi-Goutieres Syndrome
  • Aicardi Goutieres Syndrome

  • Cree Encephalitis

  • Aicardi-Goutières Syndrome

  • Encephalopathy With Basal Ganglia Calcification

  • Ags

  • Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

  • Pseudotoxoplasmosis Syndrome

  • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

  • Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

  • Aicardi-Goutieres Syndrome 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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