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

    Gene ID: 4779, updated on 5-Nov-2017
    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; 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]
    Expression
    Ubiquitous expression in heart (RPKM 133.9), kidney (RPKM 94.6) and 24 other tissues See more
    Orthologs
    Location:
    17q21.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 CDK5 regulatory subunit associated protein 3 Neighboring gene coatomer protein complex subunit zeta 2 Neighboring gene microRNA 152 Neighboring gene chromobox 1 Neighboring gene RNA, U6 small nuclear 1201, pseudogene Neighboring gene sorting nexin 11

    • 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 Jun 15 11:32:44 2016

    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
     
    positive regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    protein complex 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
    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_001330261.1NP_001317190.1  nuclear factor erythroid 2-related factor 1 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_001330262.1NP_001317191.1  nuclear factor erythroid 2-related factor 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004477, AL530578, BM971272, DB097304, L24123
      Consensus CDS
      CCDS82150.1
      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
    3. NM_003204.2NP_003195.1  nuclear factor erythroid 2-related factor 1 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, OTTHUMP00000259907, ENST00000362042.7, 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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005257413.3XP_005257470.1  nuclear factor erythroid 2-related factor 1 isoform X3

      Related
      ENSP00000350072.5, OTTHUMP00000259909, ENST00000357480.9, 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_017024691.1XP_016880180.1  nuclear factor erythroid 2-related factor 1 isoform X2

      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
    3. XM_005257410.3XP_005257467.1  nuclear factor erythroid 2-related factor 1 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
    4. XM_005257415.3XP_005257472.1  nuclear factor erythroid 2-related factor 1 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
    5. XM_005257412.3XP_005257469.1  nuclear factor erythroid 2-related factor 1 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
    6. XM_005257411.3XP_005257468.1  nuclear factor erythroid 2-related factor 1 isoform X2

      See identical proteins and their annotated locations for XP_005257468.1

      UniProtKB/TrEMBL
      J9JIE5
      Related
      ENSP00000355190.3, OTTHUMP00000259910, ENST00000361665.7, 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

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