|
Gene id |
5058 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PAK1 Gene UCSC Ensembl |
|
Aliases |
IDDMSSD, PAKalpha, alpha-PAK, p65-PAK |
|
Gene name |
p21 (RAC1) activated kinase 1 |
|
Alternate names |
serine/threonine-protein kinase PAK 1, STE20 homolog, yeast, p21 protein (Cdc42/Rac)-activated kinase 1, p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast), p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related), |
|
Gene location |
11q13.5-q14.1 (77514956: 77322016) Exons: 26 NC_000011.10
|
|
Gene summary(Entrez) |
This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small G
|
|
OMIM |
602590 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04024 | cAMP signaling pathway | | hsa04510 | Focal adhesion | | hsa04810 | Regulation of actin cytoskeleton | | hsa04625 | C-type lectin receptor signaling pathway | | hsa04650 | Natural killer cell mediated cytotoxicity | | hsa04660 | T cell receptor signaling pathway | | hsa04666 | Fc gamma R-mediated phagocytosis | | hsa04062 | Chemokine signaling pathway | | hsa04360 | Axon guidance | | hsa05205 | Proteoglycans in cancer | | hsa05211 | Renal cell carcinoma | | hsa05120 | Epithelial cell signaling in Helicobacter pylori infection | | hsa05130 | Pathogenic Escherichia coli infection | | hsa05170 | Human immunodeficiency virus 1 infection | |
|
| Associated diseases |
References |
| Cancer | GAD: 14607331 |
| Jaw Abnormalities | GAD: 22419666 |
| Parkinson disease | GAD: 17052657 |
| Endometriosis | INFBASE: 20079895 |
| Non obstructive azoospermia | MIK: 30141410 |
| Adenomyosis | INFBASE: 20079895 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Hypospermatogenesis | MIK: 28361989 |
| Plays a role in spermiogenesis by regulating DLC1 phosphorylation | MIK: 15983119 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 15983119 |
Plays a ro
le in sper
miogenesis
by regula
ting DLC1
phosphoryl
ation
|
|
|
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
|