KLF1 wt Allele

Preferred Label : KLF1 wt Allele;

NCIt synonyms : INLU; Kruppel-Like Factor 1 (Erythroid) Gene; EKLF; Erythroid Kruppel-Like Factor Gene; HBFQTL6; EKLF/KLF1; Kruppel Like Factor 1 wt Allele;

NCIt definition : Human KLF1 wild-type allele is located within 19p13.13-p13.12 and is approximately 3 kb in length. This allele, which encodes Krueppel-like factor 1 protein, plays a role in the regulation of both transcription and erythrocyte development. Heterozygous loss-of-function mutations in the gene are associated with the blood group-Lutheran inhibitor phenotype.;

GenBank Accession Number : U37106;

Details

Origin ID

C84290;

UMLS CUI

C2827369;

Currated CISMeF NLP mapping
- Blood group--lutheran inhibitor [OMIM Phenotype]
OMIM relation
- Kruppel-like factor 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_is_element_in_pathway
- Erythrocyte Differentiation Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Erythropoiesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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