2. Gene
  3. RNF19A - ring finger protein 19A, RBR E3 ubiquitin protein ligase Gene

RNF19A - ring finger protein 19A, RBR E3 ubiquitin protein ligase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：环指蛋白 19A，RBR E3 泛素蛋白连接酶

种属: Homo sapiens

同用名: RNF19

基因 ID: 25897 | 基因类型: protein coding

关于 RNF19A

Cytogenetic location: 8q22.2 Genomic coordinates (GRCh38): 8:100,257,067-100,336,204 (from NCBI)

This gene has 15 transcripts (splice variants), 218 orthologues and 9 paralogues. Ubiquitous expression in testis (RPKM 28.2), gall bladder (RPKM 22.2) and 25 other tissues.

功能概要

该基因编码无名指间环 (RBR) 蛋白家族的一个成员，编码的蛋白包含两个无名指基序和一个无名指间基序。这种蛋白质是一种 E3 泛素连接酶，定位于路易体，并泛素化 synphilin-1，后者是神经元中α突触核蛋白的相互作用蛋白。编码的蛋白质可能与肌萎缩侧索硬化症和帕金森病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin Ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RNF19A 基因产物(5)

mRNA Protein Name
NM_001280539.2 NP_001267468.1 E3 ubiquitin-protein ligase RNF19A
NM_001353837.2 NP_001340766.1 E3 ubiquitin-protein ligase RNF19A
NM_001353838.2 NP_001340767.1 E3 ubiquitin-protein ligase RNF19A
NM_015435.5 NP_056250.3 E3 ubiquitin-protein ligase RNF19A
NM_183419.4 NP_904355.1 E3 ubiquitin-protein ligase RNF19A
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RNF19A 蛋白结构

IBR

IBR: IBR domain, a half RING-finger domain (199 - 264)

IBR

IBR: IBR domain, a half RING-finger domain (294 - 340)

  • 0
  • 200
  • 400
  • 600
  • 838 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF19A

double ring-finger protein

关联疾病

疾病名称 别名
Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Spinocerebellar Ataxia, Autosomal Recessive 16

Autosomal Recessive Spinocerebellar Ataxia 16

SCAR16

Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 16

Spinocerebellar Ataxia, Autosomal Recessive, 16

Ataxia, Spinocerebellar, Autosomal Recessive, Type 16
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12072 RNF19A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RNF19A VGNC VGNC:34044
Macaca mulatta RNF19A VGNC VGNC:82224
Rattus norvegicus RNF19A RGD RGD:1307807
Mus musculus RNF19A MGD MGI:1353623
Felis catus RNF19A VGNC VGNC:64687
Canis familiaris RNF19A VGNC VGNC:45650
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