2. Gene
  3. RNF113A - ring finger protein 113A Gene

RNF113A - ring finger protein 113A Gene

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

中文名称：无名指蛋白 113A

种属: Homo sapiens

同用名: TTD5; Cwc24; RNF113; ZNF183

基因 ID: 7737 | 基因类型: protein coding

关于 RNF113A

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,870,475-119,871,733 (from NCBI)

This gene has 1 transcript (splice variant), 210 orthologues, 1 paralogue and is associated with 3 phenotypes.

功能概要

这种无内含子的基因编码的蛋白质包含一个 C3H1 型锌指结构域和一个 C3HC4 环型 (真正有趣的新基因型) 锌指结构域。环型锌指结构域在各种肿瘤抑制因子、DNA 修复基因和细胞因子受体相关分子中得到鉴定，并且可能参与介导蛋白质-蛋白质相互作用。[RefSeq 提供，2010 年 5 月]

This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

RNF113A 基因产物(1)

mRNA Protein Name
NM_006978.3 NP_008909.1 E3 ubiquitin-protein ligase RNF113A
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
22365833 GOA
enables ubiquitin protein ligase activity IMP
IMP: 通过突变表型推断
28978524 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
involved in negative regulation of chemokine-mediated signaling pathway IMP
IMP: 通过突变表型推断
28978524 GOA
involved in protein ubiquitination IMP
IMP: 通过突变表型推断
28978524 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29360106 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

RNF113A 蛋白结构

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (197 - 222)

zf-C3HC4_2

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (262 - 299)

  • 0
  • 100
  • 200
  • 300
  • 343 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein ligase RNF113A

cwc24 homolog

关联疾病

疾病名称 别名
Trichothiodystrophy 5, Nonphotosensitive

TTD5

Nonphotosensitive Trichothiodystrophy 5

Trichothiodystrophy 5, Non-Photosensitive
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes
Nonphotosensitive Trichothiodystrophy

Trichothiodystrophy Nonphotosensitive

Amish Brittle Hair Brain Syndrome
Cataract 40

CTRCT40

Cataract 40 With Or Without Microcornea

Cct

Cataract, Congenital, X-Linked

Cataract 40, X-Linked

Cataract, Congenital, With Microcornea Or Slight Microphthalmia

Cxn

Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes

Cataract 40 X-Linked

Cataract Congenital X-Linked

Cataract, Total Congenital

Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes

Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes

X-Linked Congenital Cataract

Cataract, Type 40
Cerebellar Hypoplasia
Developmental And Epileptic Encephalopathy 28

DEE28

Epileptic Encephalopathy, Early Infantile, 28

Eiee28

Developmental And Epileptic Encephalopathy, 28

Early Infantile Epileptic Encephalopathy 28

Encephalopathy, Epileptic, Early Infantile, Type 28
Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12

SCAR12

Spinocerebellar Ataxia With Mental Retardation And Epilepsy

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia, Autosomal Recessive, 12

Ataxia, Spinocerebellar, Autosomal Recessive, Type 12
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS12038 RNF113A Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta RNF113A VGNC VGNC:103854
Mus musculus RNF113A MGD MGI:1917192
Rattus norvegicus RNF113A RGD RGD:1359693
Others RNF113A NCBI
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