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NFE2L1 nuclear factor, erythroid 2-like 1 [ Homo sapiens (human) ]

Gene ID: 4779, updated on 25-Jul-2015
Official Symbol
NFE2L1provided by HGNC
Official Full Name
nuclear factor, erythroid 2-like 1provided by HGNC
Primary source
HGNC:HGNC:7781
See related
Ensembl:ENSG00000082641; HPRD:01223; MIM:163260; Vega:OTTHUMG00000178706
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRF1; TCF11; LCR-F1
Summary
This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
Orthologs
See NFE2L1 in Epigenomics, MapViewer
Location:
17q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (48048324..48061545)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46125686..46138907)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371806 Neighboring gene coatomer protein complex, subunit zeta 2 Neighboring gene microRNA 152 Neighboring gene chromobox homolog 1 Neighboring gene sorting nexin 11

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ00380

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
heme biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
nuclear factor erythroid 2-related factor 1
Names
NF-E2-related factor 1
NFE2-related factor 1
TCF-11
locus control region-factor 1
nuclear factor (erythroid-derived 2)-like 1
nuclear factor, erythroid derived 2, like 1
transcription factor 11 (basic leucine zipper type)
transcription factor HBZ17
transcription factor LCR-F1

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_003204.2NP_003195.1  nuclear factor erythroid 2-related factor 1

    See identical proteins and their annotated locations for NP_003195.1

    Status: VALIDATED

    Source sequence(s)
    AC004477, AK090459, BM983473, DA230932, DB097304, U08853
    Consensus CDS
    CCDS11524.1
    UniProtKB/Swiss-Prot
    Q14494
    UniProtKB/TrEMBL
    Q8NF22
    Related
    ENSP00000354855, OTTHUMP00000259907, ENST00000362042, OTTHUMT00000443019
    Conserved Domains (1) summary
    cd14720
    Location:651718
    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 Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    48048324..48061545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257413.2XP_005257470.1  

    See identical proteins and their annotated locations for XP_005257470.1

    UniProtKB/Swiss-Prot
    Q14494
    Related
    ENSP00000350072, OTTHUMP00000259909, ENST00000357480, OTTHUMT00000443021
    Conserved Domains (1) summary
    cd14720
    Location:621688
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  2. XM_005257410.2XP_005257467.1  

    See identical proteins and their annotated locations for XP_005257467.1

    UniProtKB/Swiss-Prot
    Q14494
    Conserved Domains (1) summary
    cd14720
    Location:651718
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  3. XM_005257412.2XP_005257469.1  

    See identical proteins and their annotated locations for XP_005257469.1

    UniProtKB/Swiss-Prot
    Q14494
    Conserved Domains (1) summary
    cd14720
    Location:621688
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  4. XM_005257411.2XP_005257468.1  

    See identical proteins and their annotated locations for XP_005257468.1

    UniProtKB/TrEMBL
    J9JIE5
    Related
    ENSP00000355190, OTTHUMP00000259910, ENST00000361665, OTTHUMT00000443024
    Conserved Domains (1) summary
    cd14720
    Location:640707
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain
  5. XM_005257415.2XP_005257472.1  

    See identical proteins and their annotated locations for XP_005257472.1

    Conserved Domains (1) summary
    cd14720
    Location:610677
    bZIP_NFE2-like; Basic leucine zipper (bZIP) domain of Nuclear Factor, Erythroid-derived 2 (NFE2) and similar proteins: a DNA-binding and dimerization domain

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    46190680..46203900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)