POU1F1 wt Allele

Preferred Label : POU1F1 wt Allele;

NCIt synonyms : POU Domain, Class 1, Transcription Factor 1 Gene; POU Class 1 Homeobox 1 wt Allele; PIT1; POU1F1a; POU Domain Class 1, Transcription Factor 1 Gene; Pit-1; CPHD1; GHF-1; Pituitary Transcript Factor 1 Gene;

NCIt definition : Human POU1F1 wild-type allele is located in the vicinity of 3p11.2 and is approximately 17 kb in length. This allele, which encodes pituitary-specific positive transcription factor 1 protein, plays a role in pituitary development and hormone expression. Mutations in this gene results in combined pituitary hormone deficiency.;

NCI Metathesaurus CUI : CL521765;

GenBank Accession Number : D10216;

Details

Origin ID

C133845;

UMLS CUI

C4521370;

Automatic exact mappings (from CISMeF team)
- POU class 1 homeobox 1 [ORDO Gene]
- Pituitary hormone deficiency, combined or isolated, 1 [OMIM Phenotype]
- Pou domain, class 1, transcription factor 1 [OMIM gene]
- Solute carrier family 20 (phosphate transporter), member 1 [OMIM gene]
OMIM relation
- Pou domain, class 1, transcription factor 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p11.2 [NCIt concept]
gene_is_element_in_pathway
- Glucocorticoid Receptor Regulatory Network [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Fate Control [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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