GeneID: 368
Names
Common Name: | NFE4 | Type: | Gene |
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Chromosome: | 7 (NC_000007.14) | Locus: | NM_001085386.2 (NFE4) |
HUGO Symbol: | NFE4 | Full Name: | nuclear factor, erythroid 4 |
Exons: | 2 | Introns: | 1 |
Description:
The erythroid-specific protein encoded by this gene, and the ubiquitous transcription factor CP2, form the stage selector protein (SSP) complex, which is involved in preferential expression of the γ-globin genes in fetal erythroid cells. Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon, and a downstream AUG codon, results in two isoforms. While the long isoform (22 kDa) acts as an activator, the short isoform (14 kDa) has been shown to repress γ-globin gene expression. Enforced expression of p22 NF-E4 in cultured human erythroid cells and in β-YAC transgenic mice increased fetal globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand.
Synonyms: NF-E4
Comments:
N/A
Number of entries/variants: 0
IthaScore
Publications / Origin
- Zhou W, Clouston DR, Wang X, Cerruti L, Cunningham JM, Jane SM, Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4., Mol. Cell. Biol., 20(20), 7662-72, 2000
- Zhou W, Zhao Q, Sutton R, Cumming H, Wang X, Cerruti L, Hall M, Wu R, Cunningham JM, Jane SM, The role of p22 NF-E4 in human globin gene switching., J. Biol. Chem., 279(25), 26227-32, 2004
A/A | Date | Curator(s) | Comments |
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1 | 2020-03-27 15:17:06 | The IthaGenes Curation Team | Created |