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

    Gene ID: 4694, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:7683
    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

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    See NDUFA1 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119871832..119876662)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118246954..118251785)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 29900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29902 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 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:119077451-119077951 Neighboring gene uncharacterized LOC124905209

    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 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 NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Potluri P, et al. Mol Genet Metab, 2009 Apr. PMID 19185523, Free PMC Article
    2. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. Zhuchenko O, et al. Genomics, 1996 Nov 1. PMID 8938439
    3. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Yu-Wai-Man P, et al. Neurology, 2002 Jun 25. PMID 12084895
    4. Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease. Tretter L, et al. Neurochem Res, 2004 Mar. PMID 15038604
    5. Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma. Mamelak AJ, et al. Exp Dermatol, 2005 May. PMID 15854127

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFA1 p.Gly32Arg variant in early-onset dementia.
      Title: NDUFA1 p.Gly32Arg variant in early-onset dementia.
    2. Results from a study on gene expression variability markers in early-stage human embryos shows that NDUF1A is a putative expression variability marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    3. The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls.
      Title: Altered mitochondrial expression genes in patients receiving right ventricular apical pacing.
    4. Fanconi anemia complementation group A mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio.
      Title: Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.
    5. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
      Title: Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
    6. Mutations in the NDUFA1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders.
      Title: Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
    7. hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants
      Title: A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    9. Oxidative stress and partial deficiencies of mitochondrial complex I are key factors in the pathogenesis of Parkinson's disease. (REVIEW)
      Title: Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.
    10. A family-based association study finds that the NDUFA1 gene is unlikely to harbor a major visual loss susceptibility locus for Leber hereditary optic neuropathy.
      Title: NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Associated conditions

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

    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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_004541.4 → NP_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:2 → 56
      MWFE; NADH-ubiquinone oxidoreductase MWFE subunit

    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_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118246954..118251785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15239.1 GenPept UniProtKB/Swiss-Prot:O15239

    Gene LinkOut

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

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