|
Gene id |
9807 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
IP6K1 Gene UCSC Ensembl |
|
Aliases |
IHPK1, PiUS |
|
Gene name |
inositol hexakisphosphate kinase 1 |
|
Alternate names |
inositol hexakisphosphate kinase 1, ATP:1D-myo-inositol-hexakisphosphate phosphotransferase, Pi uptake stimulator, inositol hexaphosphate kinase 1, insP6 kinase 1, |
|
Gene location |
3p21.31 (49786541: 49724293) Exons: 7 NC_000019.10
|
|
Gene summary(Entrez) |
This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakis
|
|
OMIM |
606991 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04070 | Phosphatidylinositol signaling system | | hsa04070 | Phosphatidylinositol signaling system | |
|
| Associated diseases |
References |
| Crohn's disease | GAD: 20307617 |
| Male factor infertility | MIK: 28743739 |
| Spermatogenesis defects | MIK: 28743739 |
| Azoospermia | MIK: 28743739 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Azoospermia | MIK: 28743739 |
| Spermatogenic defects | MIK: 28743739 |
| Male infertility | MIK: 28743739 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28743739 |
Azoospermi
a, spermat
ogenic def
ects, Male
infertili
ty
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 29728588 |
Male germ
cell devel
opment
|
|
|
|
Male infertility |
|
Show abstract |
|