PAK1 p21 (RAC1) activated kinase 1
Gene ID: 5058, updated on 3-Apr-2024Gene type: protein coding
Also known as: IDDMSSD; p65-PAK; PAKalpha; alpha-PAK
- See all available tests in GTR for this gene
- Go to complete Gene record for PAK1
- Go to Variation Viewer for PAK1 variants
Summary
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 GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. GeneReviews: Not available | |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | See labs |
Genomic context
- Location:
- 11q13.5-q14.1
- Sequence:
- Chromosome: 11; NC_000011.10 (77322017..77530009, complement)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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