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    NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 [ Homo sapiens (human) ]

    Gene ID: 4694, updated on 31-Jul-2021

    Summary

    Official Symbol
    NDUFA1provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A1provided by HGNC
    Primary source
    HGNC:HGNC:7683
    See related
    Ensembl:ENSG00000125356 MIM:300078
    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
    MWFE; ZNF183; CI-MWFE; MC1DN12
    Summary
    The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 152.0), colon (RPKM 151.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NDUFA1 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (119871832..119876662)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119005795..119010625)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene UPF3B regulator of nonsense mediated mRNA decay Neighboring gene UPF3B, regulator of nonsense mediated mRNA decay pseudogene Neighboring gene ring finger protein 113A Neighboring gene Sharpr-MPRA regulatory region 5043 Neighboring gene A-kinase anchoring protein 14 Neighboring gene NFKB activating protein

    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

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 12
    MedGen: C4746984 OMIM: 301020 GeneReviews: Not available
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    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-07-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-07-25)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
    NADH-ubiquinone oxidoreductase MWFE subunit
    NADH:ubiquinone oxidoreductase (complex 1)
    complex I MWFE subunit
    type I dehydrogenase
    NP_004532.1

    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.

    Genomic

    1. NG_009381.1 RefSeqGene

      Range
      5062..9892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004541.4NP_004532.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1

      See identical proteins and their annotated locations for NP_004532.1

      Status: REVIEWED

      Source sequence(s)
      AC002477, BC000266
      Consensus CDS
      CCDS14590.1
      UniProtKB/Swiss-Prot
      O15239
      UniProtKB/TrEMBL
      Q6IBB5
      Related
      ENSP00000360492.4, ENST00000371437.5
      Conserved Domains (1) summary
      pfam15879
      Location:256
      MWFE; NADH-ubiquinone oxidoreductase MWFE subunit

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      119871832..119876662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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