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NFE2L1 NFE2 like bZIP transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 4779, updated on 3-Apr-2024

Summary

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Official Symbol
NFE2L1provided by HGNC
Official Full Name
NFE2 like bZIP transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:7781
See related
Ensembl:ENSG00000082641 MIM:163260; AllianceGenome:HGNC:7781
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; NRF-1; 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

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See NFE2L1 in Genome Data Viewer
Location:
17q21.32
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48048359..48061545)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48910172..48923361)
105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 12323 Neighboring gene microRNA 152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:46124493-46125096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:46125097-46125698 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:46125699-46126300 Neighboring gene NFE2L1 divergent transcript Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46131609-46132468 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46133329-46134186 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46134187-46135046 Neighboring gene chromobox 1 Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46171341-46171930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46178573-46179172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8650 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:46186828-46187001 Neighboring gene sorting nexin 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive. Wang JM, et al. Hum Mutat, 2022 Apr. PMID 35112409, Free PMC Article
  2. Regulation of NRF1, a master transcription factor of proteasome genes: implications for cancer and neurodegeneration. Northrop A, et al. Mol Biol Cell, 2020 Sep 15. PMID 32924844, Free PMC Article
  3. TALENs-directed knockout of the full-length transcription factor Nrf1α that represses malignant behaviour of human hepatocellular carcinoma (HepG2) cells. Ren Y, et al. Sci Rep, 2016 Apr 11. PMID 27065079, Free PMC Article
  4. Nuclear Factor Erythroid-2 Like 1 (NFE2L1): Structure, function and regulation. Kim HM, et al. Gene, 2016 Jun 10. PMID 26947393, Free PMC Article
  5. The selective post-translational processing of transcription factor Nrf1 yields distinct isoforms that dictate its ability to differentially regulate gene expression. Zhang Y, et al. Sci Rep, 2015 Aug 13. PMID 26268886, Free PMC Article

See all (101) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of Nrf1 rather than Nrf2 leads to inflammatory accumulation of lipids and reactive oxygen species in human hepatoma cells, which is alleviated by 2-bromopalmitate.
    Title: Loss of Nrf1 rather than Nrf2 leads to inflammatory accumulation of lipids and reactive oxygen species in human hepatoma cells, which is alleviated by 2-bromopalmitate.
  2. Nrf1 is not a direct target gene of SREBP1, albeit both are integrated into the rapamycin-responsive regulatory network in human hepatoma cells.
    Title: Nrf1 is not a direct target gene of SREBP1, albeit both are integrated into the rapamycin-responsive regulatory network in human hepatoma cells.
  3. NFE2L1 restrains ferroptosis by transcriptionally regulating HJURP and participates in the progress of oral squamous cell carcinoma.
    Title: NFE2L1 restrains ferroptosis by transcriptionally regulating HJURP and participates in the progress of oral squamous cell carcinoma.
  4. Evaluation of the NRF1-proteasome axis as a therapeutic target in breast cancer.
    Title: Evaluation of the NRF1-proteasome axis as a therapeutic target in breast cancer.
  5. Transcription Factor NFE2L1 Decreases in Glomerulonephropathies after Podocyte Damage.
    Title: Transcription Factor NFE2L1 Decreases in Glomerulonephropathies after Podocyte Damage.
  6. The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis.
    Title: The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis.
  7. Unravelling the role of NFE2L1 in stress responses and related diseases.
    Title: Unravelling the role of NFE2L1 in stress responses and related diseases.
  8. The molecular network of the proteasome machinery inhibition response is orchestrated by HSP70, revealing vulnerabilities in cancer cells.
    Title: The molecular network of the proteasome machinery inhibition response is orchestrated by HSP70, revealing vulnerabilities in cancer cells.
  9. Ferroptosis regulation by the NGLY1/NFE2L1 pathway.
    Title: Ferroptosis regulation by the NGLY1/NFE2L1 pathway.
  10. Multiple myeloma cells depend on the DDI2/NRF1-mediated proteasome stress response for survival.
    Title: Multiple myeloma cells depend on the DDI2/NRF1-mediated proteasome stress response for survival.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00380

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
involved_in cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in heme biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of 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 nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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 2 like 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)

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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.

mRNA and Protein(s)

  1. NM_001330261.2 → NP_001317190.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC004477, BM971272
    Consensus CDS
    CCDS82151.1
    UniProtKB/TrEMBL
    J9JIE5, Q8NF22
    Conserved Domains (1) summary
    cd14720
    Location:640 → 707
    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_001330262.2 → NP_001317191.1  endoplasmic reticulum membrane sensor NFE2L1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC004477, BM971272, DB097304, L24123
    Consensus CDS
    CCDS82150.1
    UniProtKB/TrEMBL
    Q8NF22
    Related
    ENSP00000350072.5, ENST00000357480.9
    Conserved Domains (1) summary
    cd14720
    Location:621 → 688
    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_003204.3 → NP_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
    D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6
    UniProtKB/TrEMBL
    Q8NF22
    Related
    ENSP00000354855.3, ENST00000362042.8
    Conserved Domains (1) summary
    cd14720
    Location:651 → 718
    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: 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_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047436148.1 → XP_047292104.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

  2. XM_005257410.5 → XP_005257467.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X1

    See identical proteins and their annotated locations for XP_005257467.1

    UniProtKB/Swiss-Prot
    D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6
    UniProtKB/TrEMBL
    Q8NF22
    Conserved Domains (1) summary
    cd14720
    Location:651 → 718
    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_005257412.5 → XP_005257469.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X3

    See identical proteins and their annotated locations for XP_005257469.1

    UniProtKB/TrEMBL
    Q8NF22
    Conserved Domains (1) summary
    cd14720
    Location:621 → 688
    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_005257411.5 → XP_005257468.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X2

    See identical proteins and their annotated locations for XP_005257468.1

    UniProtKB/TrEMBL
    J9JIE5, Q8NF22
    Related
    ENSP00000355190.3, ENST00000361665.7
    Conserved Domains (1) summary
    cd14720
    Location:640 → 707
    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_005257415.5 → XP_005257472.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

    See identical proteins and their annotated locations for XP_005257472.1

    UniProtKB/TrEMBL
    Q8NF22
    Conserved Domains (1) summary
    cd14720
    Location:610 → 677
    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 T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    48910172..48923361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316271.1 → XP_054172246.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

  2. XM_054316267.1 → XP_054172242.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X1

    UniProtKB/Swiss-Prot
    D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6

  3. XM_054316269.1 → XP_054172244.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X3

  4. XM_054316268.1 → XP_054172243.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X2

    UniProtKB/TrEMBL
    J9JIE5

  5. XM_054316270.1 → XP_054172245.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14494.1 GenPept UniProtKB/Swiss-Prot:Q14494

Gene LinkOut

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