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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 (Ring Finger Protein 43) is a Protein Coding gene. Diseases associated with RNF43 include Sessile Serrated Polyposis Cancer Syndrome and Hyperplastic Polyposis Syndrome. Among its related pathways are Signaling by GPCR and S45 mutants of beta-catenin arent phosphorylated. Gene Ontology (GO) annotations related to this gene include ligase activity and obsolete signal transducer activity. An important paralog of this gene is ENSG00000285897.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IDA | 22575959 |
GO:0005109 | frizzled binding | IPI | 22895187 |
GO:0005515 | protein binding | IPI | 18313049 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005635 | nuclear envelope | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Life Cycle |
.45
|
|
2 | Regulation of FZD by ubiquitination | ||
3 | Signaling by Wnt |
.71
|
|
4 | Wnt signaling pathway | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 22895187 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0016055 | Wnt signaling pathway | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0030178 | negative regulation of Wnt signaling pathway | IMP | 22575959 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RNF43 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RNF43 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RNF43 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rnf43 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rnf43 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RNF43 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RNF43 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RNF43 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RNF43 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | Y47D3B.11 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8714 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
742295 | Likely Benign: not provided | 58,358,806(-) | G/T | MISSENSE_VARIANT | |
834367 | Uncertain Significance: not provided | 58,358,101(-) | T/G | MISSENSE_VARIANT | |
834383 | Uncertain Significance: not provided | 58,358,212(-) | T/G | MISSENSE_VARIANT | |
835283 | Uncertain Significance: not provided | 58,358,371(-) | C/T | MISSENSE_VARIANT | |
842205 | Uncertain Significance: not provided | 58,358,327(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
sessile serrated polyposis cancer syndrome |
|
|
hyperplastic polyposis syndrome |
|
|
colorectal cancer |
|
|
malignant epithelial mesothelioma |
|
|
lynch syndrome |
|
|