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

RNF43 - ring finger protein 43 Gene

Homo sapiens

Also known as URCC; SSPCS; RNF124

Gene ID: 54894 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables frizzled binding IPI
IPI: Inferred from physical interaction
22895187 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18313049 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
22575959 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Wnt receptor catabolic process IDA
IDA: Inferred from direct assay
22895187 GOA
involved in negative regulation of Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
22575959 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
22575959 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
22895187 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
22575959 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RNF43 Protein Structure

zf-RING_2

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

  • 0
  • 200
  • 400
  • 600
  • 783 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RNF43

RING-type E3 ubiquitin transferase RNF43

RNF43 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RNF43 Q68DV7 MYADM Homo sapiens Q96S97 33961781
Intra
RNF43 Q68DV7 UBE2D2 Homo sapiens P62837 18313049
Intra
RNF43 Q68DV7 UBE2D3 Homo sapiens P61077 18313049
Intra
RNF43 Q68DV7 UBE2D3 Homo sapiens P61077 19690564
Intra
RNF43 Q68DV7 AKAP8L Homo sapiens Q9ULX6
Y2H
18313049
Intra
RNF43 Q68DV7 AKAP8L Homo sapiens Q9ULX6 18313049
Intra
RNF43 Q68DV7 UBB Homo sapiens P0CG47 18313049
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant RNF43 Proteins

Cat. No. Product Name Accession Purity
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%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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