POT1 wt Allele

Preferred Label : POT1 wt Allele;

NCIt synonyms : DKFZp586D211; Protection of Telomeres 1 Homolog (S. pombe) Gene; Protection of Telomeres 1 wt Allele; HPOT1; CMM10; GLM9;

NCIt definition : Human POT1 wild-type allele is located in the vicinity of 7q31.33 and is approximately 108 kb in length. This allele, which encodes protection of telomeres protein 1, is involved in the positive regulation of telomerase.;

GenBank Accession Number : AK022580;

Details

Origin ID

C107656;

UMLS CUI

C3813175;

Automatic exact mappings (from CISMeF team)
- Glioma susceptibility 9 [OMIM Phenotype]
- Melanoma, cutaneous malignant, susceptibility to, 10 [OMIM Phenotype]
- protection of telomeres 1 [ORDO Gene]
OMIM relation
- Protection of telomeres 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_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_is_element_in_pathway
- Telomerase Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Elongation by Telomerase [NCIt concept]
- Telomere Capping [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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