|
Gene id |
3098 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HK1 Gene UCSC Ensembl |
|
Aliases |
HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, RP79, hexokinase |
|
Gene name |
hexokinase 1 |
|
Alternate names |
hexokinase-1, brain form hexokinase, glycolytic enzyme, hexokinase IR, hexokinase type I, hexokinase-A, |
|
Gene location |
10q22.1 (69269990: 69401881) Exons: 29 NC_000023.11
|
|
Gene summary(Entrez) |
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been
|
|
OMIM |
142600 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Anemia | KEGG: H00664 |
| Diabetes | GAD: 19651813 |
| Alzheimer's disease | GAD: 16385451 |
| Attention deficit hyperactivity disorder (ADHD) | GAD: 20732627 |
| Associated with spermiogenesis | MIK: 22190698 |
| Associated with spermiogenesis | MIK: 22190698 |
| Cryptorchidism | MIK: 28606200 |
| Hypospermatogenesis | MIK: 28361989 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 22190698 |
Associated
with sper
miogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|