DISEASES

Disease-gene associations mined from literature

Literature associating AXIN1 and exudative vitreoretinopathy 1

AXIN1 [ENSP00000262320]

Axin-1; Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453). 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 . ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17210684,

Synonyms:  AXIN1,  AXIN1p,  hAXIN1,  A0A0S2Z4R0,  A0A0S2Z4S3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM