PAK3 wt Allele

Preferred Label : PAK3 wt Allele;

NCIt synonyms : OPHN3; p21 (RAC1) Activated Kinase 3 wt Allele; MRX30; ARA; MRX47; bPAK; beta-PAK; PAK-3; Mental Retardation, X-Linked 47 Gene; p21 Protein (Cdc42/Rac)-Activated Kinase 3 Gene; p21 (CDKN1A)-Activated Kinase 3 Gene; PAK3beta;

NCIt definition : Human PAK3 wild-type allele is located in the vicinity of Xq23 and is approximately 283 kb in length. This allele, which encodes serine/threonine-protein kinase PAK 3 protein, plays a role in small G protein-mediated signaling. Mutation of the gene is associated with X-linked mental retardation type 30/47.;

NCI Metathesaurus CUI : CL508919;

GenBank Accession Number : AF068864;

Détails

Origin ID

C127850;

UMLS CUI

C4282437;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily C member 6 [ORDO Gene]
- Atp-binding cassette, subfamily C, member 6 [OMIM gene]
- Intellectual developmental disorder, X-linked 30 [OMIM Phenotype]
- P21 protein-activated kinase 3 [OMIM gene]
- Product containing vidarabine (medicinal product) [SNOMED CT concept]
- adenoviridae [MeSH Descriptor]
- forkhead box C1 [ORDO Gene]
- mental retardation, X-Linked 30 [MeSH Supplementary Concept]
- mental retardation, X-Linked 47 [MeSH Supplementary Concept]
- non-syndromic X-linked intellectual disability 30 [DO Concept]
- p21 (RAC1) activated kinase 3 [ORDO Gene]
- p21-Activated kinases [MeSH Descriptor]
- vidarabine [MeSH Descriptor]
OMIM relation
- P21 protein-activated kinase 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Agrin Pathway [NCIt concept]
- Axon Guidance Pathway [NCIt concept]
- ERBB Family Signaling Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- T Cell Receptor Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cellular Migration Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

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