RPS6KA3 wt Allele

Preferred Label : RPS6KA3 wt Allele;

NCIt synonyms : ISPK1; HU-3; XLID19; MRX19; MAPKAPK1B; S6K-Alpha-3; RSK2; ISPK-1; CLS; Ribosomal S6 Kinase 2 Gene; p90-RSK2; Ribosomal Protein S6 Kinase, 90kD, Polypeptide 3 Gene; Ribosomal Protein S6 Kinase, 90kDa, Polypeptide 3 Gene; Ribosomal Protein S6 Kinase, 90-kD, 3 Gene; Ribosomal Protein S6 Kinase A3 wt Allele; S6K-alpha3; pp90RSK2; RSK;

NCIt definition : Human RPS6KA3 wild-type allele is located in the vicinity of Xp22.12 and is approximately 118 kb in length. This allele, which encodes ribosomal protein S6 kinase alpha-3 protein, is involved in the modulation of transcription factor phosphorylation and activation. Mutation of the gene is associated with both Coffin-Lowry syndrome and X-linked intellectual developmental disorder type 19.;

NCI Metathesaurus CUI : CL1664730;

GenBank Accession Number : U08316;

Details

Origin ID

C181646;

UMLS CUI

C5551163;

Automatic exact mappings (from CISMeF team)
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-lowry syndrome [OMIM Phenotype]
- Intellectual developmental disorder, X-linked 19 [OMIM Phenotype]
- Ribosomal protein s6 kinase a3 [OMIM gene]
- non-syndromic X-linked intellectual disability 19 [DO Concept]
- ribosomal protein S6 kinase A3 [ORDO Gene]
- ribosomal protein S6 kinase, 90kDa, polypeptide 3 [MeSH Supplementary Concept]
OMIM relation
- Ribosomal protein s6 kinase a3 [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
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- Epidermal Growth Factor Receptor Downstream Signaling Pathway [NCIt concept]
- Long-Term Potentiation Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Neurotrophin Signaling Pathway [NCIt concept]
- Oocyte Meiosis Pathway [NCIt concept]
- PDGFR-beta Signaling Pathway [NCIt concept]
- Progesterone-Mediated Oocyte Maturation Pathway [NCIt concept]
- mTOR Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Negative Regulation of Apoptosis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Stress Response Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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