Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | AXIN1 |
| Gene Name: | AXIN1 |
| Protein Full Name: | Axin-1 |
| Alias: | Axin; Axin1; Axis inhibition protein 1; AXN1 |
| Mass (Da): | 95635 |
| Number AA: | 862 |
| UniProt ID: | O15169 |
| Locus ID: | 8312 |
| COSMIC ID: | AXIN1 |
| Gene location on chromosome: | 16p13.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 21931 |
| Percent of cancer specimens with mutations: | 1.51 |
| Normal role description: | AXIN1 funtionsin the WNT pathway where it complexes with GSK-3beta, APC, beta-catenin and PP2A to active beta-catenin, which promotes transcription of pro-growth genes (i.e., c-Myc, Cyclin-D, and CD44). Mutations in this gene have been implicated in: hepatocellular carcinoma, medulloblastoma, colorectal carcinoma, and brain tumors, as well as lung, cerivical, and prostate tumors. |
| Commentary on involvement of protein in cancer: | 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. Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. 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. Defects in AXIN1 are involved in hepatocellular carcinoma (HCC) [MIM:114550]. Ref.6 Ref.20 Defects in AXIN1 are a cause of caudal duplication anomaly (CADUA) [MIM:607864]. Caudal duplication anomaly is characterized by the occurrence of duplications of different organs in the caudal region. Note=Caudal duplication anomaly is associated with hypermethylation of the AXIN1 promoter. |