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NFE4 nuclear factor, erythroid 4 [ Homo sapiens (human) ]

Gene ID: 58160, updated on 10-Oct-2023

Summary

Official Symbol
NFE4provided by HGNC
Official Full Name
nuclear factor, erythroid 4provided by HGNC
Primary source
HGNC:HGNC:29902
See related
Ensembl:ENSG00000230257 MIM:612133; AllianceGenome:HGNC:29902
Gene type
ncRNA
RefSeq status
VALIDATED
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]
Expression
Biased expression in adrenal (RPKM 1.2), appendix (RPKM 0.3) and 3 other tissues See more
Orthologs
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Genomic context

See NFE4 in Genome Data Viewer
Location:
7q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102973430..102988853)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104288525..104303972)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102613877..102629300)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene F-box and leucine rich repeat protein 13 Neighboring gene RN7SK pseudogene 198 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 Neighboring gene NANOG hESC enhancer GRCh37_chr7:102541113-102541614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:102580673-102581173 Neighboring gene leucine rich repeat containing 17 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:102584236-102584801 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:102613398-102614597 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102616989-102617150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102631963-102633162 Neighboring gene Sharpr-MPRA regulatory region 7515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26438 Neighboring gene armadillo repeat containing 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:102746161-102747030 Neighboring gene crystallin zeta pseudogene 1 Neighboring gene N-acyl phosphatidylethanolamine phospholipase D Neighboring gene uncharacterized LOC105375434 Neighboring gene ribosomal protein L19 pseudogene 12

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Other Names

  • fetal globin activator NF-E4
  • gamma-globin gene activator
  • transcription factor NF-E4

NCBI Reference Sequences (RefSeq)

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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.

RNA

  1. NR_166510.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073127
    Related
    ENST00000420058.2
  2. NR_166511.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073127
    Related
    ENST00000703021.1
  3. NR_166512.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073127
    Related
    ENST00000686902.1
  4. NR_166513.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC073127

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    102973430..102988853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    104288525..104303972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001085386.2: Suppressed sequence

    Description
    NM_001085386.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.