ANKS1A


Description

The ANKS1A (ankyrin repeat and sterile alpha motif domain containing 1A) is a protein-coding gene located on chromosome 6.

Ankyrin repeat and SAM domain-containing protein 1A (ANKS1A), also known as ODIN, is a protein encoded by the ANKS1A gene on chromosome 6 in humans. It is expressed in various tissues and cell types. ODIN regulates the epidermal growth factor receptor (EGFR) and EphA receptor signaling pathways. As a Src family kinase target, ODIN is implicated in cancer development. The ANKS1A gene is associated with an increased risk of coronary artery disease. The ANKS1A gene is located on chromosome 6 at the band 6p21.31 and includes 29 exons. It produces 2 isoforms through alternative splicing. ODIN is a member of the ankyrin repeat and sterile alpha motif domain-containing (ANKS) family. It contains 6 ankyrin repeats, 1 phosphotyrosine binding (PTD) domain, and 2 tandem sterile alpha motif (SAM) domains. The first SAM domain interacts with the SAM domain of the EphA2 receptor by adopting a mid-loop/end-helix conformation, potentially regulating EphA2 endocytosis. ODIN is widely expressed in tissues including the heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas.

ANKS1A is also known as ANKS1.

Associated Diseases


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