GeneID: 217

Description:
The AXIN1 gene encodes a key regulator of the Wnt signaling pathway that controls several biological processes during embryonic development, including cell fate derermination and organogenesis, and plays indespensable roles in tissue homeostasis, cell renewal and regeneration. The encoded protein forms part of a cytoplasmic destruction complex that is involved in the phosphorylation, ubiquitination and degradation of the downstream effector protein, β-catenin. Axin1 is considered the rate limiting factor of the destruction complex and interacts with all other core components, thereby forming the central scaffold of the complex. Being a non-abundant protein, Axin 1 is critical for the assembly and disassembly of the destruction complex. Wnt activation starts a series of molecular events that lead to degradation of Axin1 and subsequently to disruption of the β-catenin destruction complex. β-Catenin translocates to the nucleus where it modules the expression of target genes. Axin1 is considered a tumor suppressor protein, since mutations in this gene have been associated with several types of cancers. Polymorphisms in this gene associated with haemoglobin levels in the general population of Sardinia.

Synonyms: AXIN , PPP1R49

Comments:
N/A

Number of entries/variants: 7

1. Li VS, Ng SS, Boersema PJ, Low TY, Karthaus WR, Gerlach JP, Mohammed S, Heck AJ, Maurice MM, Mahmoudi T, Clevers H, Wnt signaling through inhibition of β-catenin degradation in an intact Axin1 complex., Cell , 149(6), 1245-56, 2012 PubMed
2. Mazzoni SM, Fearon ER, AXIN1 and AXIN2 variants in gastrointestinal cancers., Cancer Lett. , 355(1), 1-8, 2014 PubMed
3. Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F, Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels., Nat. Genet. , 47(11), 1264-71, 2015 PubMed