HOOK1 Gene - Hook Microtubule Tethering Protein 1
Comprehensive gene information for HOOK1, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | HOOK1 |
|---|---|
| Full Name | Hook Microtubule Tethering Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.1 |
| NCBI Gene ID | 51361 ncbi.nlm.nih.gov/gene/51361 |
| Ensembl ID | ENSG00000134709 |
| UniProt ID | Q9UJC3 |
| OMIM ID | 607820 |
| HGNC ID | 19884 |
| Aliases | HK1, HOOK, h-hook1 |
Description
HOOK1 encodes a member of the hook family of proteins, which are involved in microtubule-dependent endosomal trafficking. The protein localizes to the Golgi complex and endosomes, and is essential for spermatogenesis, specifically for the formation of the manchette and sperm head shaping. HOOK1 interacts with microtubules and other hook family members to mediate cargo transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 62 | Mutations in HOOK1 disrupt microtubule tethering during spermatogenesis, leading to abnormal sperm head morphology and infertility. | OMIM #619673; ClinVar |
| Non-obstructive azoospermia | Loss-of-function variants impair endosomal trafficking required for sperm development. | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain | 4.2 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.7 | Cervical carcinoma; moderate expression |
| HEK293 | 6.3 | Embryonic kidney; moderate expression |
| K562 | 2.1 | Leukemia; low expression |
| SH-SY5Y | 5.0 | Neuroblastoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1483G>A (p.Gly495Arg) | Missense | Rare | Likely damaging; disrupts microtubule binding |
| c.1742_1743del (p.Glu581Glyfs*2) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent HOOK1 protein, impairing microtubule tethering and endosomal trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule-dependent transport of endosomes
• Spermatogenesis (manchette formation)
Protein Summary
HOOK1 is a 728-amino acid protein that belongs to the hook family. It contains an N-terminal microtubule-binding domain and a C-terminal domain that mediates interaction with other hook proteins and cargo. The protein is essential for linking endosomes to microtubules, facilitating their movement. In testis, HOOK1 is critical for the formation of the manchette, a microtubule structure required for sperm head elongation and nuclear shaping.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HOOK1 Knockout HEK293 Cell Line | EDJ-KQ11069 | Human | 51361 | Details Get a Quote |
| HOOK1 Knockout A-549 Cell Line | EDJ-KQ38986 | Human | 51361 | Details Get a Quote |
| HOOK1 Knockout HCT 116 Cell Line | EDJ-KQ38987 | Human | 51361 | Details Get a Quote |
| HOOK1 Knockout HeLa Cell Line | EDJ-KQ38988 | Human | 51361 | Details Get a Quote |
