1. Gene
  2. DNASE1L3 - deoxyribonuclease 1 like 3 Gene

DNASE1L3 - deoxyribonuclease 1 like 3 Gene

中文名称:脱氧核糖核酸酶 1 样 3

种属: Homo sapiens

同用名: LSD; DHP2; SLEB16; DNAS1L3

基因 ID: 1776 | 基因类型: protein coding

关于 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.

功能概要

该基因编码脱氧核糖核酸酶 I 家族的一个成员。编码的蛋白质水解 DNA,不受肌动蛋白抑制,并在细胞凋亡过程中介导 DNA 的分解。该基因的突变是系统性红斑狼疮 16 的一个原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 2 月]

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 基因产物(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

DNASE1L3 蛋白结构

Exo_endo_phos

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

  • 0
  • 100
  • 200
  • 305 a.a.
蛋白主名 其他名称

deoxyribonuclease gamma

DNase I homolog protein 2

重组 DNASE1L3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71543 DNASE1L3 Protein, Human (GST) Q13609 (M21-S305) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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