NFE4 transcription factor NF-E4 [Homo sapiens] - Gene

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Summary

Gene symbol: NFE4
Gene description: transcription factor NF-E4
Primary source: MIM:612133
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NF-E4
Summary: 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 gamma-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 gamma-globin gene expression. This gene is located in an intron of the FBXL13 gene on the opposite strand. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q22.1

Sequence :: Chromosome: 7; NC_000007.13 (102613884..102619114)

See NFE4 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

findings indicate that p22 NF-E4 is capable of influencing human globin gene expression in vivo but is incapable of overriding the intrinsic mechanisms governing gamma-gene silencing in this context
Title: The role of p22 NF-E4 in human globin gene switching.
stabilization of NF-E4 by acetylation is PCAF-dependent; acetylation of Lys(43) also reduces the interaction between NF-E4 and HDAC1, potentially maximizing the activating ability of the factor
Title: Site-specific acetylation of the fetal globin activator NF-E4 prevents its ubiquitination and regulates its interaction with the histone deacetylase, HDAC1.
Cloning and characterization of NF-E4 as a component of the stage selector protein complex, and demonstration of non-AUG translation initiation codon usage.
Title: Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Transcription factor NF-E4	Q13547	HDAC1	HPRD	PubMed
Transcription factor NF-E4	Q92831	KAT2B	HPRD	PubMed
Transcription factor NF-E4	Q12800	TFCP2	HPRD	PubMed
BioGRID:121800	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:121800	BioGRID:114375	KAT2B	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:121800	BioGRID:115688	PRMT5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121800	BioGRID:112882	TFCP2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:121800	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Process	Evidence Code	Pubs
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription factor NF-E4

Names: transcription factor NF-E4; gamma-globin gene activator; fetal globin activator NF-E4

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_006916.1 Reference

Range

501..5731

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001085386.1 → NP_001078855.1 transcription factor NF-E4

Status: REVIEWED

Source sequence(s)

AC073127, AY258907, BC036938

UniProtKB/Swiss-Prot

Q86UQ8