RNF43 gene

ring finger protein 43

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby resticting the size of the intestinal stem cell zone.

Covered on Genetics Home Reference:

From NCBI Gene:

  • SESSILE SERRATED POLYPOSIS CANCER SYNDROME

Cytogenetic Location: 17q22, which is the long (q) arm of chromosome 17 at position 22

Molecular Location: base pairs 58,352,500 to 58,418,895 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q22, which is the long (q) arm of chromosome 17 at position 22
  • RNF124
  • SSPCS
  • URCC