UBTF wt Allele

Preferred Label : UBTF wt Allele;

NCIt synonyms : NOR-90; UBF1; UBF2; UBF; Upstream Binding Transcription Factor (RNA Polymerase I) Gene; Upstream Binding Transcription Factor, RNA Polymerase I Gene; Upstream Binding Transcription Factor wt Allele; UBF-1; CONDBA; Upstream Binding Factor Gene;

NCIt definition : Human UBTF wild-type allele is located in the vicinity of 17q21.31 and is approximately 17 kb in length. This allele, which encodes nucleolar transcription factor 1 protein, plays a role in ribosomal RNA synthesis. Mutation of the gene is associated with childhood-onset neurodegeneration with brain atrophy (CONDBA).;

NCI Metathesaurus CUI : CL545764;

GenBank Accession Number : BC042297;

Details

Origin ID

C147962;

UMLS CUI

C4553522;

Automatic exact mappings (from CISMeF team)
- Human upstream binding factor [LOINC component]
- Upstream binding transcription factor (rna polymerase I) [OMIM gene]
- transcription factor UBF [MeSH Supplementary Concept]
- upstream binding transcription factor [ORDO Gene]
OMIM relation
- Upstream binding transcription factor (rna polymerase I) [OMIM gene]
See also inter- (CISMeF)
- Neurodegeneration, childhood-onset, with brain atrophy [OMIM Phenotype]
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_in_chromosomal_location
- 17q21.31 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Transcription Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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