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    NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 [ Homo sapiens (human) ]

    Gene ID: 374291, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFS7provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit S7provided by HGNC
    Primary source
    HGNC:HGNC:7714
    See related
    Ensembl:ENSG00000115286 MIM:601825
    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
    PSST; CI-20; MY017; MC1DN3; CI-20KD
    Summary
    This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 13.3), duodenum (RPKM 11.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NDUFS7 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1383904..1395584)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1383906..1395583)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene tRNA-Phe (anticodon GAA) 1-6 Neighboring gene tRNA-Asn (anticodon GTT) 2-6 Neighboring gene guanidinoacetate N-methyltransferase Neighboring gene DAZ associated protein 1

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NADH-coenzyme Q reductase; NDUFS7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ45860, FLJ46880, MGC120002

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables NADH dehydrogenase (ubiquinone) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    contributes_to NADH dehydrogenase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables quinone binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix 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 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
    NADH-coenzyme Q reductase
    NADH-ubiquinone oxidoreductase 20 kDa subunit
    NADH:ubiquinone oxidoreductase PSST subunit
    PSST subunit
    complex I 20kDa subunit
    complex I, mitochondrial respiratory chain, 20-KD subunit
    complex I-20kD
    NP_001350531.1
    NP_077718.3
    XP_016882257.2
    XP_024307267.1

    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_008283.1 RefSeqGene

      Range
      5024..16701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363602.2NP_001350531.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005329, AK293917, BC001715, DC340464
      Consensus CDS
      CCDS86683.1
      Related
      ENSP00000443273.1, ENST00000539480.5
      Conserved Domains (1) summary
      PRK06411
      Location:63181
      PRK06411; NADH dehydrogenase subunit B; Validated
    2. NM_024407.5NP_077718.3  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_077718.3

      Status: REVIEWED

      Source sequence(s)
      BC001715, DC340464
      Consensus CDS
      CCDS12063.1
      UniProtKB/Swiss-Prot
      O75251
      UniProtKB/TrEMBL
      Q7LD69
      Related
      ENSP00000233627.9, ENST00000233627.14
      Conserved Domains (1) summary
      PRK06411
      Location:63213
      PRK06411; NADH dehydrogenase subunit B; Validated

    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_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      1383904..1395584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026768.2XP_016882257.2  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X1

    2. XM_024451499.1XP_024307267.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X3

      Conserved Domains (1) summary
      PRK06411
      Location:70220
      PRK06411; NADH dehydrogenase subunit B; Validated
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