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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
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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

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

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