|
Gene id |
5174 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PDZK1 Gene UCSC Ensembl |
|
Aliases |
CAP70, CLAMP, NHERF-3, NHERF3, PDZD1 |
|
Gene name |
PDZ domain containing 1 |
|
Alternate names |
Na(+)/H(+) exchange regulatory cofactor NHE-RF3, CFTR-associated protein of 70 kDa, PDZ-containing kidney protein 1, na/Pi cotransporter C-terminal-associated protein 1, naPi-Cap1, sodium-hydrogen exchanger regulatory factor 3, |
|
Gene location |
1q21.1 (145708200: 145670851) Exons: 16 NC_000001.11
|
|
Gene summary(Entrez) |
This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical
|
|
OMIM |
603831 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Coronary heart disease | GAD: 20855565 |
| Metabolic syndrome | GAD: 19321583 |
| Sperm maturation arrest | MIK: 29405165 |
| Cryptorchidism | MIK: 28606200 |
| Sperm maturation effects | MIK: 29405165 |
| Male infertility | MIK: 29405165 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29405165 |
Sperm matu
ration eff
ects, Male
infertili
ty
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|