CCAAT/Enhancer-Binding Protein, Alpha

Alternative Names

  • CEBPA
  • C/EBP-Alpha
  • CEBP
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OMIM Number

116897

NCBI Gene ID

1050

Uniprot ID

P49715

Length

2,631 bases

No. of Exons

1

No. of isoforms

4

Protein Name

CCAAT/enhancer-binding protein alpha

Molecular Mass

37561 Da

Amino Acid Count

358

Genomic Location

chr19:33,299,934-33,302,564

Gene Map Locus
19q13.11

Description

This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001287435.1:c.122T>CLebanonchr19:33302249Uncertain SignificanceBreast CancerNG_012022.1:g.5276T>C; NM_001287435.1:c.122T>C; NP_001274364.1:p.Ile41Thr
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