1. Gene
  2. RNF139 - ring finger protein 139 Gene

RNF139 - ring finger protein 139 Gene

中文名称:无名指蛋白 139

种属: Homo sapiens

同用名: RCA1; TRC8; HRCA1

基因 ID: 11236 | 基因类型: protein coding

关于 RNF139

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:124,474,880-124,488,618 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 33.6), testis (RPKM 25.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种含有 RING-H2 指的跨膜蛋白质。该蛋白质位于内质网中,已被证明具有泛素连接酶活性。在一个患有遗传性肾癌和非甲状腺髓样癌的家族中,发现该基因被 at (3:8) 易位打断。对果蝇对应物的研究表明,该蛋白质可能与肿瘤抑制蛋白 VHL 以及 COPS5/JAB1 相互作用,COPS5/JAB1 是一种负责肿瘤抑制因子 CDKN1B/P27KIP 降解的蛋白质。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin Ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid Cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008]

RNF139 基因产物(1)

mRNA Protein Name
NM_007218.4 NP_009149.2 E3 ubiquitin-protein ligase RNF139
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 protease binding IPI
IPI: 通过物理相互作用推断
25239945 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12032852 GOA
enables ubiquitin protein ligase activity IDA
IDA: 通过直接分析推断
10500182 GOA
enables ubiquitin-like protein transferase activity IDA
IDA: 通过直接分析推断
17016439 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
17016439 GOA
enables ubiquitin-protein transferase activity IMP
IMP: 通过突变表型推断
19720873 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERAD pathway IMP
IMP: 通过突变表型推断
25239945 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
17016439 GOA
involved in negative regulation of translation IDA
IDA: 通过直接分析推断
20068067 GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
25239945 GOA
involved in protein destabilization IMP
IMP: 通过突变表型推断
25239945 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
10500182 GOA
involved in protein ubiquitination IMP
IMP: 通过突变表型推断
19720873 GOA
involved in regulation of ER to Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
19706601 GOA
involved in regulation of protein processing IDA
IDA: 通过直接分析推断
19706601 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Derlin-1 retrotranslocation complex IDA
IDA: 通过直接分析推断
25239945 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
12032852 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

RNF139 蛋白结构

TRC8_N

TRC8_N: TRC8 N-terminal domain (18 - 516)

zf-RING_2

zf-RING_2: Ring finger domain (545 - 585)

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

E3 ubiquitin-protein ligase RNF139

RING-type E3 ubiquitin transferase RNF139

RNF139 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RNF139 Q8WU17 VHL Homo sapiens P40337 12032852
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Dysgerminoma
Hereditary Renal Cell Carcinoma
Collecting Duct Carcinoma

Kidney Medullary Carcinoma

Renal Medullary Carcinoma

Bdc

Bellini Carcinoma

Bellini Duct Carcinoma

Cdc

Collecting Duct Carcinoma Of The Kidney

Renal Cell Adenocarcinoma

Carcinoma Of Renal Collecting Duct

Renal Carcinoma, Collecting Duct Type

Renal Cell Carcinoma

Bellini'S Duct Carcinoma

Renal Collecting Duct Carcinoma

Adenocarcinoma Of Kidney

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Dysgerminoma Of Ovary

Ovarian Dysgerminoma

Malignant Dysgerminomatous Germ Cell Tumour Of Ovary

Dysgerminoma, Unspecified Site, Female

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
Macaca mulatta RNF139 VGNC VGNC:84109
Bos taurus RNF139 VGNC VGNC:34023
Canis familiaris RNF139 VGNC VGNC:45632
Mus musculus RNF139 MGD MGI:1923091
Rattus norvegicus RNF139 RGD RGD:1306670