CAMTA1 wt Allele

Preferred Label : CAMTA1 wt Allele;

NCIt synonyms : KIAA0833; RP3-467L1.1; MSTP023; Calmodulin Binding Transcription Activator 1 wt Allele; CANPMR;

NCIt definition : Human CAMTA1 wild-type allele is located within 1p36.31-p36.23 and is approximately 984 kb in length. This allele, which encodes calmodulin-binding transcription activator 1 protein, plays a role in transcriptional regulation. A chromosomal translocation involving this gene and the WWTR gene may be associated with epithelioid hemangioendothelioma.;

NCIt note : Loss of heterozygosity of the CAMTA1 gene is associated with decreased expression of the gene in both oligodendroglial tumors with 1p deletions and neuroblastoma where the minimal deleted region includes 1p36. (UniProt);

GenBank Accession Number : AB020640;

Details

Origin ID

C101441;

UMLS CUI

C3540555;

Automatic exact mappings (from CISMeF team)
- Calmodulin-binding transcription activator 1 [OMIM gene]
- Cerebellar dysfunction with variable cognitive and behavioral abnormalities [OMIM Phenotype]
- calmodulin binding transcription activator 1 [ORDO Gene]
OMIM relation
- Calmodulin-binding transcription activator 1 [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_plays_role_in_process
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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