ANKHD1 Gene - Ankyrin Repeat and KH Domain Containing 1 | Function, Mutations & Diseases

ANKHD1 (Ankyrin Repeat and KH Domain Containing 1) is a protein-coding gene located on chromosome 5q31.3. It encodes a large multi-domain protein that contains multiple ankyrin repeats and a KH domain, which are involved in protein-protein interactions and RNA binding, respectively. ANKHD1 is implicated in the regulation of cell proliferation, apoptosis, and the Hippo signaling pathway. It is overexpressed in various cancers and is considered a potential oncogene.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Hippo signaling pathway

• Apoptosis

• Cell cycle

The ANKHD1 protein is a large multi-domain protein (approximately 2500 amino acids) containing multiple ankyrin repeats and a KH domain. Ankyrin repeats mediate protein-protein interactions, while the KH domain binds RNA. ANKHD1 is primarily cytoplasmic but can shuttle to the nucleus. It acts as a scaffold protein in the Hippo signaling pathway, regulating YAP1 activity and thereby influencing cell proliferation and apoptosis. Overexpression of ANKHD1 is observed in several cancers and is associated with poor prognosis.