GATA1 wt Allele

Preferred Label : GATA1 wt Allele;

NCIt synonyms : NFE1; GATA1; ERYF1; XLTDA; GF1; XLTT; GATA Binding Protein 1 (Globin Transcription Factor 1) Gene; GF-1; GATA Binding Protein 1 wt Allele; XLANP; GATA-1; NF-E1;

NCIt definition : Human GATA1 wild-type allele is located in the vicinity of Xp11.23 and is approximately 8 kb in length. This allele, which encodes erythroid transcription factor protein, is involved in the regulation of both transcription by RNA polymerase II and erythroid development.;

NCIt note : The GATA1 gene product binds to DNA sites with the consensus sequence 5'[AT]GATA[AG]3' within regulatory regions of globin genes and of other genes expressed in erythroid cells (GeneCards).;

GenBank Accession Number : NM_002049;

Details

Origin ID

C52908;

UMLS CUI

C1706325;

OMIM relation
- Gata-binding protein 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_associated_with_disease
- Myeloid Leukemia Associated with Down Syndrome [NCIt concept]
- Transient Abnormal Myelopoiesis Associated with Down Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 48401210-48408967 [NCIt concept]
gene_in_chromosomal_location
- Xp11.23 [NCIt concept]
gene_is_element_in_pathway
- HDAC Class I Signaling Pathway [NCIt concept]
- HDAC Class II Signaling Pathway [NCIt concept]
- Hemoglobin Chaperone Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Erythropoiesis [NCIt concept]
- Megakaryocyte Differentiation [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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