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NFE2L3 nuclear factor, erythroid 2 like 3 [ Homo sapiens (human) ]

Gene ID: 9603, updated on 20-Jun-2020

Summary

Official Symbol
NFE2L3provided by HGNC
Official Full Name
nuclear factor, erythroid 2 like 3provided by HGNC
Primary source
HGNC:HGNC:7783
See related
Ensembl:ENSG00000050344 MIM:604135
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
NRF3
Summary
This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]
Expression
Broad expression in placenta (RPKM 30.4), appendix (RPKM 7.6) and 16 other tissues See more
Orthologs

Genomic context

See NFE2L3 in Genome Data Viewer
Location:
7p15.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (26152198..26187137)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (26191847..26226757)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375199 Neighboring gene microRNA 148a Neighboring gene uncharacterized LOC105375198 Neighboring gene heterogeneous nuclear ribonucleoprotein A2/B1 Neighboring gene chromobox 3

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
NHGRI GWA Catalog
Common variants at 1p36 are associated with superior frontal gyrus volume.
NHGRI GWA Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
NHGRI GWA Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
nuclear factor erythroid 2-related factor 3
Names
NF-E2-related factor 3
NFE2-related factor 3
nuclear factor, erythroid derived 2, like 3
nuclear factor-erythroid 2 p45-related factor 3

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.

mRNA and Protein(s)

  1. NM_004289.7NP_004280.5  nuclear factor erythroid 2-related factor 3

    See identical proteins and their annotated locations for NP_004280.5

    Status: REVIEWED

    Source sequence(s)
    AA603252, AC004520, AF134891, BC056142, BX396198
    Consensus CDS
    CCDS5396.1
    UniProtKB/Swiss-Prot
    Q9Y4A8
    Related
    ENSP00000056233.3, ENST00000056233.4
    Conserved Domains (1) summary
    cd14720
    Location:575642
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    26152198..26187137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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