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    NDUFA4 NDUFA4 mitochondrial complex associated [ Homo sapiens (human) ]

    Gene ID: 4697, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NDUFA4provided by HGNC
    Official Full Name
    NDUFA4 mitochondrial complex associatedprovided by HGNC
    Primary source
    HGNC:HGNC:7687
    See related
    Ensembl:ENSG00000189043 MIM:603833; AllianceGenome:HGNC:7687
    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
    MLRQ; CI-9k; COXFA4; MISTR1; MRCAF1; CI-MLRQ; MC4DN21
    Summary
    The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 150.5), brain (RPKM 62.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA4 in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (10931943..10940153, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (11062535..11070743, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (10971570..10979780, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC79150 Neighboring gene uncharacterized LOC107986766 Neighboring gene VISTA enhancer hs793 Neighboring gene MPRA-validated peak6384 silencer Neighboring gene uncharacterized LOC124900231 Neighboring gene MPRA-validated peak6385 silencer Neighboring gene uncharacterized LOC100131472 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:10763070-10763266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:10781799-10782298 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:10948792-10949324 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:10979917-10980837 Neighboring gene uncharacterized LOC107986767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17973 Neighboring gene Sharpr-MPRA regulatory region 7861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17975 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:11022338-11022514 Neighboring gene ribosomal protein L23a pseudogene 52 Neighboring gene PHD finger protein 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit. Kim JW, et al. Biochem Mol Biol Int, 1997 Oct. PMID 9352085
    2. m6A RNA methylation-mediated NDUFA4 promotes cell proliferation and metabolism in gastric cancer. Xu W, et al. Cell Death Dis, 2022 Aug 17. PMID 35977935, Free PMC Article
    3. NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Pitceathly RD, et al. Cell Rep, 2013 Jun 27. PMID 23746447, Free PMC Article
    4. A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants. Han Y, et al. Cell Stem Cell, 2022 Oct 6. PMID 36206731, Free PMC Article
    5. NDUFA4 promotes cell proliferation by enhancing oxidative phosphorylation in pancreatic adenocarcinoma. Zhang Y, et al. J Bioenerg Biomembr, 2022 Dec. PMID 36307669

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFA4 promotes the progression of head and neck paraganglioma by inhibiting ferroptosis.
      Title: NDUFA4 promotes the progression of head and neck paraganglioma by inhibiting ferroptosis.
    2. NDUFA4 promotes cell proliferation by enhancing oxidative phosphorylation in pancreatic adenocarcinoma.
      Title: NDUFA4 promotes cell proliferation by enhancing oxidative phosphorylation in pancreatic adenocarcinoma.
    3. A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants.
      Title: A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants.
    4. m6A RNA methylation-mediated NDUFA4 promotes cell proliferation and metabolism in gastric cancer.
      Title: m6A RNA methylation-mediated NDUFA4 promotes cell proliferation and metabolism in gastric cancer.
    5. Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
      Title: Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
    6. NDUFA4 was identified as a direct target of miR-147b and knockdown of NDUFA4 abolished the oncogenic role of miR-147b inhibitor.
      Title: LncRNA MAFG-AS1 promotes the progression of colorectal cancer by sponging miR-147b and activation of NDUFA4.
    7. Results found that NDUFA4 mRNAs are upregulated and associated with oxidative phosphorylation pathway in gastric cancer. Also, NDUFA4 seems to promote the proliferation, reduce apoptosis, and regulate the oxidative phosphorylation pathway in gastric cancer cells.
      Title: Long non-coding RNA MIF-AS1 promotes gastric cancer cell proliferation and reduces apoptosis to upregulate NDUFA4.
    8. Findings support reassignment of the NDUFA4 protein to complex IV and suggest that patients with unexplained COX deficiency should be screened for NDUFA4 mutations.
      Title: NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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 4 deficiency, nuclear type 21
    MedGen: C5436727 OMIM: 619065 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ27440, MGC104422, MGC126843, MGC126845

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular 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 electron transport, cytochrome c to oxygen 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 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 IV IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex IV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit NDUFA4
    Names
    Complex I 9kDa subunit
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4
    NADH-ubiquinone oxidoreductase MLRQ subunit
    complex I-MLRQ
    cytochrome c oxidase subunit FA4
    mitochondrial respiratory chain associated factor 1
    mitochondrial stress response 1
    NP_002480.1

    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_050627.1 RefSeqGene

      Range
      5034..13244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002489.4 → NP_002480.1  cytochrome c oxidase subunit NDUFA4

      Status: REVIEWED

      Source sequence(s)
      AC007029, BG623521
      Consensus CDS
      CCDS5357.1
      UniProtKB/Swiss-Prot
      A4D109, O00483, Q6FHN5
      Related
      ENSP00000339720.5, ENST00000339600.6
      Conserved Domains (1) summary
      pfam06522
      Location:11 → 78
      B12D; NADH-ubiquinone reductase complex 1 MLRQ 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      10931943..10940153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      11062535..11070743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00483.1 GenPept UniProtKB/Swiss-Prot:O00483

    Gene LinkOut

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

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