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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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