Entity Details

Primary name RNF43_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ68DV7
EntryNameRNF43_HUMAN
FullNameE3 ubiquitin-protein ligase RNF43
TaxID9606
Evidenceevidence at protein level
Length783
SequenceStatuscomplete
DateCreated2007-02-20
DateModified2021-06-02

Ontological Relatives

GenesRNF43

GO terms

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GOName
GO:0004842 ubiquitin-protein transferase activity
GO:0005109 frizzled binding
GO:0005635 nuclear envelope
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007275 multicellular organism development
GO:0016055 Wnt signaling pathway
GO:0016567 protein ubiquitination
GO:0030178 negative regulation of Wnt signaling pathway
GO:0038018 Wnt receptor catabolic process
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity
GO:0072089 stem cell proliferation

Subcellular Location

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Subcellular Location
Cell membrane
Endoplasmic reticulum membrane
Nucleus envelope

Domains

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DomainNameCategoryType
IPR001841 Zinc finger, RING-typeDomainDomain
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR040700 ZNRF-3, ectodomainDomainDomain

Diseases

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Disease IDSourceNameDescription
617108 OMIMSessile serrated polyposis cancer syndrome (SSPCS)A rare disease characterized by multiple and/or large serrated polyps developing in the colon, and an increased personal and familial risk of colorectal cancer. A patient is diagnosed with SSPCS if at least one of the following criteria is met: the presence of at least five sessile serrated polyps proximal to the sigmoid colon, two of which are greater than 10 mm in diameter; the presence of any number of serrated polyps occurring proximal to the sigmoid colon in an individual who has a first-degree relative with serrated polyposis; the presence of more than 20 serrated polyps of any size distributed throughout the colon. Sessile serrated polyps are also known as sessile serrated adenomas (SSA) and are estimated to be responsible for 20 to 35% of all colon cancers. Individuals with SSPCS may have a strong personal or family history of extracolonic cancers. Disease susceptibility may be associated with variants affecting the gene represented in this entry.