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RNF43

From Wikipedia, the free encyclopedia

RNF43
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRNF43, RNF124, URCC, ring finger protein 43, SSPCS
External IDsOMIM: 612482; MGI: 2442609; HomoloGene: 37742; GeneCards: RNF43; OMA:RNF43 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001305544
NM_001305545
NM_017763

NM_172448
NM_001363437

RefSeq (protein)

NP_001292473
NP_001292474
NP_060233

NP_766036
NP_001350366

Location (UCSC)Chr 17: 58.35 – 58.42 MbChr 11: 87.55 – 87.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ring finger protein 43 is a protein that in humans is encoded by the RNF43 gene. [5]

Function

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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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]. A nuclear function for the protein has also been proposed but recently it was shown that this is an artifact, nuclear staining being an artifact of the antibodies employed.[6] Cancer-associated RNF43 mutations lead to activation of β-catenin signaling through aberrantly increasing Wnt-receptor levels at the membrane. Importantly, inactivating N-terminal RNF43 mutations render cancer cells sensitive to Wnt antagonists, but mutations elsewhere do not.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108375Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034177Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Ring finger protein 43". Retrieved 2018-02-21.
  6. ^ Li S, Zhang R, Lavrijsen M, van den Bosch TP, Peppelenbosch MP, Smits R (2023). "Issues with RNF43 antibodies to reliably detect intracellular location". PLOS ONE. 18 (4): e0283894. Bibcode:2023PLoSO..1883894L. doi:10.1371/journal.pone.0283894. PMC 10079101. PMID 37023034.
  7. ^ Li S, Lavrijsen M, Bakker A, Magierowski M, Magierowska K, Liu P, Wang W, Peppelenbosch MP, Smits R (2020). "Commonly observed RNF43 mutations retain functionality in attenuating Wnt/β-catenin signaling and unlikely confer Wnt-dependency onto colorectal cancers". Oncogene. 39 (17): 3458–3472. doi:10.1038/s41388-020-1232-5. PMID 32103169.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.