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

    Gene ID: 4697, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See NDUFA4 in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (10931943..10940153, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (11062535..11070743, complement)
    105.20220307 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

    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 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    General protein information

    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)

    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.

    Genomic

    1. NG_050627.1 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_002480.1

      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:1178
      B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)