RNF43 - ring finger protein 43 Gene
Also Known as URCC; SSPCS; RNF124
Species: Homo sapiens
About RNF43
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 |
| Molecular Function GO Annotation | Evidence | References | 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 | References | 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 | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
22575959 | GOA |
RNF43 Protein Structure
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 |
|
RNF43 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
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 | 18313049 | |
|
Intra
|
RNF43 | Q68DV7 | AKAP8L | Homo sapiens | Q9ULX6 | 18313049 | |
|
Intra
|
RNF43 | Q68DV7 | UBB | Homo sapiens | P0CG47 | 18313049 |
Recombinant RNF43 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P76007 | RNF43 Protein, Human (HEK293, Fc) | Q68DV7-1 (G24-Y197) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P76008 | RNF43 Protein, Human (HEK293, His) | Q68DV7-1/NP_060233.3 (G24-Y197) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Sessile Serrated Polyposis Cancer Syndrome |
|
|
| Colorectal Cancer |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Pancreatoblastoma |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Tetraamelia Syndrome |
|
|
| Ovarian Cystadenocarcinoma |
|
|
| Pancreatic Mucinous Cystadenoma |
|
|
| Ovarian Serous Cystadenocarcinoma |
|
|
| Ovary Adenocarcinoma |
|
|
| Lynch Syndrome |
|
|
| Colonic Benign Neoplasm |
|
|
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 |