Disease-gene associations mined from literature

AXIN1 disease associations

AXIN1 [ENSP00000262320]

Axis inhibition protein 1; Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling. Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signaling pathway and ventralize embryos, but also dorsalizes embryos by activating a Wnt-independent JNK signaling pathway. In Wnt signaling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B. Likely to function as a tumor suppressor. Enhances TGF-beta signaling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7. Also component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development. Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation; Protein phosphatase 1 regulatory subunits

Synonyms:  AXIN1,  AXIN1p,  hAXIN1,  AXIN1-001,  AXIN1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM