HOOK1

Description

The HOOK1 (hook microtubule tethering protein 1) is a protein-coding gene located on chromosome 1.

HOOK1 is a human gene that encodes a protein belonging to the Hook family of coiled coil proteins. These proteins bind to microtubules and organelles through their N- and C-terminal domains, respectively. The HOOK1 protein localizes to specific subcellular structures and interacts with several Rab GTPases, suggesting a role in linking endocytic membrane trafficking to the microtubule cytoskeleton. Several alternative splicing variants of HOOK1 have been identified, but the full-length nature of some of these variants remains unclear.

The HOOK1 protein is a component of the FTS/Hook/FHIP complex (FHF complex). This complex may play a role in promoting vesicle trafficking and fusion by interacting with the homotypic vesicular protein sorting complex (HOPS complex). The FHF complex also helps distribute the AP-4 complex to the perinuclear area of the cell. HOOK1 is essential for spermatid differentiation and likely participates in positioning the microtubules of the manchette and flagellum in relation to the membrane skeleton.

HOOK1 is also known as HK1.

Associated Diseases

• substance abuse
• male infertility with teratozoospermia due to single gene mutation
• partial chromosome Y deletion
• spermatogenic failure 20
• spermatogenic failure 72
• spermatogenic failure 46
• spermatogenic failure 27
• spermatogenic failure 18
• spermatogenic failure 65
• spermatogenic failure, X-linked, 3
• spermatogenic failure 43