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    NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 [ Homo sapiens (human) ]

    Gene ID: 4724, updated on 11-Jul-2021

    Summary

    Official Symbol
    NDUFS4provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit S4provided by HGNC
    Primary source
    HGNC:HGNC:7711
    See related
    Ensembl:ENSG00000164258 MIM:602694
    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
    AQDQ; CI-18; MC1DN1; CI-AQDQ; CI-18 kDa
    Summary
    This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in heart (RPKM 25.7), fat (RPKM 23.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NDUFS4 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (53560610..53683338)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52856469..52979168)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5487 Neighboring gene follistatin Neighboring gene long intergenic non-protein coding RNA 2105 Neighboring gene argininosuccinate synthetase 1 pseudogene 9

    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
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    GeneReviews: Not available
    Mitochondrial complex I deficiency, nuclear type 1
    MedGen: CN257533 OMIM: 252010 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
    NADH-ubiquinone oxidoreductase 18 kDa subunit
    complex I 18kDa subunit
    complex I-AQDQ
    mitochondrial respiratory chain complex I (18-KD subunit)

    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_008200.1 RefSeqGene

      Range
      5005..127704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318051.2NP_001304980.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon, which results in a frameshift compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
      Source sequence(s)
      BU145342, BU954271, CD692133
      Related
      ENSP00000424570.1, ENST00000506765.1
      Conserved Domains (1) summary
      pfam04800
      Location:76117
      ETC_C1_NDUFA4; ETC complex I subunit conserved region
    2. NM_002495.4NP_002486.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002486.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI001139, BU954271, CD692133
      Consensus CDS
      CCDS3960.1
      UniProtKB/Swiss-Prot
      O43181
      UniProtKB/TrEMBL
      A0A0S2Z433
      Related
      ENSP00000296684.5, ENST00000296684.10
      Conserved Domains (1) summary
      pfam04800
      Location:76170
      ETC_C1_NDUFA4; ETC complex I subunit conserved region

    RNA

    1. NR_134473.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI001139, BU954271, CD692133, KU178227
      Related
      ENST00000506974.5
    2. NR_134474.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI001139, BU954271, DA609203
    3. NR_134475.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI001139, BU954271, CD692133
      Related
      ENST00000507026.5

    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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      53560610..53683338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009491.1XP_016864980.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform X1

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