|
Gene id |
51361 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HOOK1 Gene UCSC Ensembl |
|
Aliases |
HK1 |
|
Gene name |
hook microtubule tethering protein 1 |
|
Alternate names |
protein Hook homolog 1, h-hook1, hHK1, hook homolog 1, |
|
Gene location |
1p32.1 (59814921: 59876369) Exons: 25 NC_000019.10
|
|
Gene summary(Entrez) |
This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interac
|
|
OMIM |
607820 |
|
| Associated diseases |
References |
| Manchette-associated protein essential for spermiogenesis | MIK: 19091768 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Manchette-associated protein essential for spermiogenesis | MIK: 19091768 |
| Oligozoospermia | MIK: 21989496 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19091768 |
Manchette-
associated
protein e
ssential f
or spermio
genesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
| 21989496 |
Oligozoosp
ermia
|
|
|
11 (8 infertile
and 3 fertile
men)
|
Male infertility |
Microarray
|
Show abstract |
|