POLR1A wt Allele

Preferred Label : POLR1A wt Allele;

NCIt synonyms : RPA1; RNA Polymerase I Subunit A wt Allele; DKFZP586M0122; RPO14; Polymerase (RNA) I Subunit A Gene; RNA Polymerase I, 194-kD Subunit Gene; FLJ21915; Polymerase (RNA) I Polypeptide A, 194kDa Gene; RPA190; A190; RPO1-4; Polymerase I, RNA, Subunit A Gene; RPA194; AFDCIN;

NCIt definition : Human POLR1A wild-type allele is located in the vicinity of 2p11.2 and is approximately 86 kb in length. This allele, which encodes DNA-directed RNA polymerase I subunit RPA1 protein, plays a role in the transcription of ribosomal RNA. Mutation of the gene is associated with Cincinnati type acrofacial dysostosis.;

NCI Metathesaurus CUI : CL1778223;

GenBank Accession Number : AK025568;

Details

Origin ID

C185836;

UMLS CUI

C5575365;

Automatic exact mappings (from CISMeF team)
- Acrofacial dysostosis, cincinnati type [OMIM Phenotype]
- Polymerase I, rna, subunit a [OMIM gene]
- RNA polymerase I subunit A [ORDO Gene]
- Replication protein a1, 70-kd [OMIM gene]
OMIM relation
- Polymerase I, rna, subunit a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- RNA Polymerase Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Polymerization [NCIt concept]
- RNA Synthesis [NCIt concept]
- Transcription [NCIt concept]

Keyword's position in hierarchy(ies) :

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