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

Gene ID: 4779, updated on 4-Jul-2021

Summary

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 MIM:163260
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]
Annotation information
Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
Expression
Ubiquitous expression in heart (RPKM 133.9), kidney (RPKM 94.6) and 24 other tissues See more
Orthologs
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Genomic context

See NFE2L1 in Genome Data Viewer
Location:
17q21.32
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48048359..48061545)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46125721..46138907)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene COPI coat complex subunit zeta 2 Neighboring gene microRNA 152 Neighboring gene NFE2L1 divergent transcript Neighboring gene chromobox 1 Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene sorting nexin 11

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

Associated conditions

Description Tests
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
GeneReviews: Not available
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00380

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
endoplasmic reticulum membrane sensor NFE2L1
Names
NF-E2-related factor 1
NFE2-related factor 1
TCF-11
locus control region-factor 1
nuclear factor erythroid 2-related factor 1
nuclear factor, erythroid derived 2, like 1
protein NRF1, p120 form
transcription factor 11 (basic leucine zipper type)
transcription factor HBZ17
transcription factor LCR-F1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001330261.2NP_001317190.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC004477, BM971272
    Consensus CDS
    CCDS82151.1
    UniProtKB/TrEMBL
    J9JIE5
    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
  2. NM_001330262.2NP_001317191.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC004477, BM971272, DB097304, L24123
    Consensus CDS
    CCDS82150.1
    UniProtKB/Swiss-Prot
    Q14494
    Related
    ENSP00000350072.5, ENST00000357480.9
    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
  3. NM_003204.3NP_003195.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 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
    ENSP00000354855.3, ENST00000362042.8
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48048359..48061545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257410.4XP_005257467.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X1

    See identical proteins and their annotated locations for XP_005257467.1

    UniProtKB/Swiss-Prot
    Q14494
    UniProtKB/TrEMBL
    Q8NF22
    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
  2. XM_005257415.4XP_005257472.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

    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
  3. XM_005257412.4XP_005257469.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X3

    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_005257411.4XP_005257468.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X2

    See identical proteins and their annotated locations for XP_005257468.1

    UniProtKB/TrEMBL
    J9JIE5
    Related
    ENSP00000355190.3, ENST00000361665.7
    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
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