Ankyrin repeat and EF-hand domain-containing protein 1 (ANKEF1)

Ankyrin repeat and EF-hand domain-containing protein 1 (ANKEF1) is a protein encoded by the ANKEF1 gene that features both ankyrin repeats, commonly involved in protein–protein interactions, and an EF-hand domain, typically involved in calcium binding[2][4]. ANKEF1 has been identified in multiple studies as playing roles in vertebrate biology, including cilia formation and function, cell adhesion, embryonic morphogenesis, and possibly cellular signaling[2][3]. High expression is noted in testis and brain, consistent with a critical role in sperm motility—ANKRD5/ANKEF1 knockout mice exhibit reduced sperm motility and male infertility due to disruption of the axonemal nexin–dynein regulatory complex (N-DRC) essential for flagellar movement[1]. Additional studies link ANKEF1 to cancer risk pathways, particularly in the context of transgenerational mammary cancer risk in mice exposed to a high-fat maternal diet[2]. Mutations or disruption of ANKEF1 are also associated with hereditary deafness[4]. Studies in zebrafish and Xenopus models implicate ANKEF1 in embryonic development, cell protrusion, and tissue morphogenesis; downregulation produces defects such as spina bifida and shortened body axis[2][3]. Despite its biological importance, ANKEF1 is not currently recognized as a direct therapeutic target, and there are no known approved drugs or small molecules that act on it.

Other names

Ankyrin repeat domain-containing protein 5ANKRD5FLJ21669dJ839B4.6ANKEF1Ankyrin repeat and EF-hand domain containing 1