RNF43
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ring finger protein 43 | MIM:612482 | Ensembl:ENSG00000108375 | HGNC:HGNC:18505 | PA34441 | 17q22 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in RNF43
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005635 | nuclear envelope |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| BP | IBA | GO:0006511 | ubiquitin-dependent protein catabolic process |
| BP | IDA | GO:0006511 | ubiquitin-dependent protein catabolic process |
| BP | IEA | GO:0016055 | Wnt signaling pathway |
| BP | IDA | GO:0016567 | protein ubiquitination |
| BP | IEA | GO:0016567 | protein ubiquitination |
| BP | IBA | GO:0030178 | negative regulation of Wnt signaling pathway |
| BP | IMP | GO:0030178 | negative regulation of Wnt signaling pathway |
| BP | IBA | GO:0038018 | Wnt receptor catabolic process |
| BP | IDA | GO:0038018 | Wnt receptor catabolic process |
| BP | TAS | GO:0038018 | Wnt receptor catabolic process |
| BP | ISS | GO:0072089 | stem cell proliferation |
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IBA | GO:0005109 | frizzled binding |
| MF | IPI | GO:0005109 | frizzled binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0061630 | ubiquitin protein ligase activity |
| MF | TAS | GO:0061630 | ubiquitin protein ligase activity |
Gene expression in normal tissue: RNF43
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RNF43
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | p73pathway | p73 transcription factor network |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-4641263 | Regulation of FZD by ubiquitination |
| reactome | R-HSA-4791275 | Signaling by WNT in cancer |
| reactome | R-HSA-5340588 | RNF mutants show enhanced WNT signaling and proliferation |
| reactome | R-HSA-5663202 | Diseases of signal transduction |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD470 | Trametinib | 1 |
| iGMDRD394 | BX-795 | 1 |
| iGMDRD461 | VX-11e | 1 |
| iGMDRD21 | Fluorouracil | 1 |
| iGMDRD614 | Dabrafenib | 1 |
| iGMDRD50 | Cytarabine | 1 |
| iGMDRD587 | CHEMBL585951 | 1 |
| iGMDRD652 | UNC0638 | 1 |
| iGMDRD392 | Masitinib | 1 |
| iGMDRD360 | SB-505124 | 1 |
| iGMDRD556 | Quizartinib | 1 |
| iGMDRD1015 | THZ-2-102-1 | 1 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD200 | STF62247 | 1 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD44 | Temozolomide | 1 |
| iGMDRD991 | Porcupine inhibitor | 2 |
| iGMDRD669 | PDK1 inhibitor | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RNF43
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