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

    Gene ID: 4779, updated on 27-Nov-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NFE2L1 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48048359..48061545)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48910172..48923361)
    RS_2024_09 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

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ00380

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell redox homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to cholesterol ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    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 lipid homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of odontoblast differentiation IDA
    Inferred from Direct Assay
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    located_in nucleus IDA
    Inferred from Direct Assay
    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 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)

    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, Q8NF22
      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/TrEMBL
      Q8NF22
      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
      D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6
      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: GCF_000001405.40-RS_2024_08

    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_047436148.1XP_047292104.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

    2. XM_005257410.5XP_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: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_005257412.5XP_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: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_005257411.5XP_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: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_005257415.5XP_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: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 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_054316271.1XP_054172246.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4

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

      UniProtKB/Swiss-Prot
      D3DTU3, D3DTU5, Q12877, Q14494, Q96FN6
    3. XM_054316269.1XP_054172244.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X3

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

      UniProtKB/TrEMBL
      J9JIE5
    5. XM_054316270.1XP_054172245.1  endoplasmic reticulum membrane sensor NFE2L1 isoform X4