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    NRF1 nuclear respiratory factor 1 [ Homo sapiens (human) ]

    Gene ID: 4899, updated on 9-Jan-2022

    Summary

    Official Symbol
    NRF1provided by HGNC
    Official Full Name
    nuclear respiratory factor 1provided by HGNC
    Primary source
    HGNC:HGNC:7996
    See related
    Ensembl:ENSG00000106459 MIM:600879
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALPHA-PAL
    Summary
    This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
    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 ovary (RPKM 7.4), lymph node (RPKM 5.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NRF1 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (129611720..129757076)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129251561..129396916)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986848 Neighboring gene small lysine rich protein 1 Neighboring gene uncharacterized LOC105375501 Neighboring gene RNA, 5S ribosomal pseudogene 244 Neighboring gene microRNA 182

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of nuclear respiratory factor 1 (NRF1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    nuclear respiratory factor 1
    Names
    alpha palindromic-binding protein

    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_001040110.2NP_001035199.1  nuclear respiratory factor 1 isoform 1

      See identical proteins and their annotated locations for NP_001035199.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 2. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC078846, AI816827, BC016925, BG742958, BM449724, BM993780, L22454
      Consensus CDS
      CCDS5813.2
      UniProtKB/Swiss-Prot
      Q16656
      UniProtKB/TrEMBL
      A0A024R770
      Related
      ENSP00000376922.2, ENST00000393230.6
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    2. NM_001293163.2NP_001280092.1  nuclear respiratory factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001280092.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AC084864, BC016925, BM993780, HY166547
      Consensus CDS
      CCDS78273.1
      UniProtKB/Swiss-Prot
      Q16656
      UniProtKB/TrEMBL
      A0A024R774
      Related
      ENSP00000309826.2, ENST00000311967.6
      Conserved Domains (2) summary
      pfam10492
      Location:468512
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    3. NM_001293164.2NP_001280093.1  nuclear respiratory factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001280093.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the coding region, and initiates translation at a downstream start codon, compared to variant 3. The encoded protein (isoform 3) is shorter, compared to isoform 2.
      Source sequence(s)
      AC084864, AK290891, AK293351, BC016925, BM993780, HY166547
      UniProtKB/Swiss-Prot
      Q16656
      Conserved Domains (1) summary
      pfam10491
      Location:1122
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1
    4. NM_005011.5NP_005002.3  nuclear respiratory factor 1 isoform 1

      See identical proteins and their annotated locations for NP_005002.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded protein (isoform 1) is shorter, compared to isoform 2. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC084864, AK290891, AK293351, BM993780, HY166547
      Consensus CDS
      CCDS5813.2
      UniProtKB/Swiss-Prot
      Q16656
      UniProtKB/TrEMBL
      A0A024R770
      Related
      ENSP00000376924.1, ENST00000393232.6
      Conserved Domains (2) summary
      pfam10492
      Location:450493
      Nrf1_activ_bdg; Nrf1 activator activation site binding domain
      pfam10491
      Location:87283
      Nrf1_DNA-bind; NLS-binding and DNA-binding and dimerization domains of Nrf1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      129611720..129757076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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