1. Gene
  2. RNF43 - ring finger protein 43 Gene

RNF43 - ring finger protein 43 Gene

中文名称:无名指蛋白 43

种属: Homo sapiens

同用名: URCC; SSPCS; RNF124

基因 ID: 54894 | 基因类型: protein coding

关于 RNF43

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,352,500-58,417,534 (from NCBI)

This gene has 8 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 105 phenotypes. Broad expression in duodenum (RPKM 7.1), colon (RPKM 6.1) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种 RING 型 E3 泛素连接酶,预计包含一个跨膜结构域、一个蛋白酶相关结构域、一个胞外结构域和一个细胞质 RING 结构域。这种蛋白质被认为负向调节 Wnt 信号,该基因的表达导致卷曲受体的泛素化增加,改变它们的亚细胞分布,导致这些受体的表面水平降低。该基因的突变已在多种肿瘤细胞中报道,包括结直肠癌和子宫内膜癌。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 3 月]

The protein encoded by this gene is a RING-type E3 ubiquitin Ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of Frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

RNF43 基因产物(3)

mRNA Protein Name
NM_001305544.2 NP_001292473.1 E3 ubiquitin-protein ligase RNF43 isoform 1 precursor
NM_001305545.1 NP_001292474.1 E3 ubiquitin-protein ligase RNF43 isoform 2
NM_017763.6 NP_060233.3 E3 ubiquitin-protein ligase RNF43 isoform 1 precursor
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 frizzled binding IPI
IPI: 通过物理相互作用推断
22895187 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18313049 GOA
enables ubiquitin-protein transferase activity IDA
IDA: 通过直接分析推断
22575959 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Wnt receptor catabolic process IDA
IDA: 通过直接分析推断
22895187 GOA
involved in negative regulation of Wnt signaling pathway IMP
IMP: 通过突变表型推断
22575959 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
22575959 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
22895187 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
22575959 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

RNF43 蛋白结构

zf-RING_2

zf-RING_2: Ring finger domain (271 - 312)

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

E3 ubiquitin-protein ligase RNF43

RING-type E3 ubiquitin transferase RNF43

RNF43 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
RNF43 Q68DV7 MYADM Homo sapiens Q96S97
Anti Tag CoIP
33961781
种属内
RNF43 Q68DV7 UBE2D2 Homo sapiens P62837
Enzymatic Study
18313049
种属内
RNF43 Q68DV7 UBE2D3 Homo sapiens P61077
Enzymatic Study
18313049
种属内
RNF43 Q68DV7 UBE2D3 Homo sapiens P61077
Y2H Array
19690564
种属内
RNF43 Q68DV7 AKAP8L Homo sapiens Q9ULX6
Y2H
18313049
种属内
RNF43 Q68DV7 AKAP8L Homo sapiens Q9ULX6
Anti Tag CoIP
18313049
种属内
RNF43 Q68DV7 UBB Homo sapiens P0CG47
Anti Tag CoIP
18313049
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 RNF43 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76007 RNF43 Protein, Human (HEK293, Fc) Q68DV7 (G24-Y197) ≥95%
HY-P76008 RNF43 Protein, Human (HEK293, His) Q68DV7-1/NP_060233.3 (G24-Y197) ≥95%

关联疾病

疾病名称 别名
Sessile Serrated Polyposis Cancer Syndrome

SSPCS

Serrated Polyposis Syndrome

Hyperplastic Polyposis Syndrome

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Uterine Corpus Endometrial Carcinoma
Pancreatoblastoma
Hereditary Mixed Polyposis Syndrome

Hmps

Tetraamelia Syndrome

Tetra-Amelia Syndrome

Tetraamelia-Multiple Malformations Syndrome

Tetra-Amelia

Tetra-Amelia, Autosomal Recessive

Tetraamelia, Autosomal Recessive

Total Amelia

Zimmer Phocomelia

Tetams

Zimmer Taub Sova Syndrome

Ovarian Cystadenocarcinoma

Cystadenocarcinoma Of Ovary

Cystadenocarcinoma Of The Ovary

Pancreatic Mucinous Cystadenoma

Pancreatic Mucinous Cystic Neoplasm

Pancreatic Mucinous-Cystic Neoplasm

Ovarian Serous Cystadenocarcinoma

Serous Cystadenoma

Cystadenoma Serous

Cystadenoma, Serous

Ovary Adenocarcinoma

Ovarian Adenocarcinoma

Adenocarcinoma Of The Ovary

Ovarian Adenoacanthoma

Adenocarcinoma Of Ovary

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos

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 RNF43 RGD RGD:1305204
Mus musculus RNF43 MGD MGI:2442609
Macaca mulatta RNF43 VGNC VGNC:99221
Canis familiaris RNF43 VGNC VGNC:45671
Felis catus RNF43 VGNC VGNC:99434
Bos taurus RNF43 VGNC VGNC:34068
Others RNF43 NCBI