Harminin-binding protein 1 (USHBP1)

Harminin-binding protein 1 (USHBP1) is a cytoplasmic protein known to bind harmonin, a core component of the Usher syndrome type I protein network[3][4]. USHBP1 enables interactions with PDZ domain-containing scaffold proteins involved in the structural and functional maintenance of sensory cells in the retina and cochlea, and is implicated in Usher syndrome. Mutations or functional disruptions in USHBP1 or its network partners are associated with syndromic hearing and visual disorders; however, USHBP1 itself is not established as a therapeutic target or receptor, and drugs targeting this molecule have not been reported[4]. USHBP1 is sometimes referenced as being mutated in certain cancers, but there is limited functional and mechanistic evidence linking this to a direct disease mechanism. Most functional data pertains to its protein binding roles in the Usher protein complex and PDZ domain scaffolding. USHBP1 should not be confused with harmonin itself (encoded by the USH1C gene), which is a much more functionally characterized scaffold protein critical in Usher syndrome pathogenesis[1][2].

Other names

Harminin-binding protein USHBP1USHBP1AIEBPMCC2MCC-2USH1C-binding protein 1FLJ38709AIE-75-binding proteinMutated in colon cancer protein 2Usher syndrome type-1C protein-binding protein 1Usher syndrome 1C binding protein 1