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

    Gene ID: 374291, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:7714
    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
    mouse all
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    Genomic context

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    See NDUFS7 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1383907..1395584)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1353497..1365582)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1383906..1395583)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9706 Neighboring gene tRNA-Phe (anticodon GAA) 1-6 Neighboring gene tRNA-Asn (anticodon GTT) 2-6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9707 Neighboring gene guanidinoacetate N-methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9710 Neighboring gene DAZ associated protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1415933-1416526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1416527-1417121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1423502-1424380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1424381-1425259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1434260-1434763

    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
    • 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. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. Koopman WJ, et al. Biochim Biophys Acta, 2008 Jul-Aug. PMID 18435906
    2. Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. Visch HJ, et al. J Biol Chem, 2004 Sep 24. PMID 15269216
    3. No association between genetic polymorphisms of the NDUFS7 gene and schizophrenia in Han Chinese. Ma L, et al. Psychiatr Genet, 2013 Feb. PMID 22935918
    4. A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. Lebon S, et al. Mol Genet Metab, 2007 Sep-Oct. PMID 17604671
    5. Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. Ugalde C, et al. Hum Mol Genet, 2004 Oct 15. PMID 15317750

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells.
      Title: SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells.
    2. However, similar to another family member, RdmB, it catalyzes the introduction of a hydroxyl group, in the case of NDUFAF5, into Arg-73 in the NDUFS7 subunit of human complex I
      Title: NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.
    3. no active role of NDUFS7 gene in schizophrenia, was found.
      Title: No association between genetic polymorphisms of the NDUFS7 gene and schizophrenia in Han Chinese.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. Both the amount and intrinsic activity of complex I are decreased in inherited complex I deficiency, ehich can be increased by Trolox.
      Title: Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
    6. A patient with Leigh syndrome (LS), born to consanguineous parents, with severe complex I defect and a novel mutation in the NDUFS7 gene subunit.
      Title: A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.
    7. Intronic NDUFS7 gene mutation is associated with activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome
      Title: A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
    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 1 deficiency, nuclear type 3
    MedGen: C4748752 OMIM: 618224 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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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

    • 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
    		  
    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
    		  
    Process Evidence Code Pubs
    involved_in aerobic respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in electron transport coupled proton transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IMP
    Inferred from Mutant Phenotype
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in synaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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_054176887.1
    XP_054176888.1

    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_008283.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001363602.2 → NP_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
      UniProtKB/TrEMBL
      B7Z1U1, F5H5N1
      Related
      ENSP00000443273.1, ENST00000539480.5
      Conserved Domains (1) summary
      PRK06411
      Location:63 → 181
      PRK06411; NADH dehydrogenase subunit B; Validated

    2. NM_024407.5 → NP_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
      B3KRI2, O75251, Q2T9H7, Q9BV17
      UniProtKB/TrEMBL
      B7Z1U1, Q7LD69
      Related
      ENSP00000233627.9, ENST00000233627.14
      Conserved Domains (1) summary
      PRK06411
      Location:63 → 213
      PRK06411; NADH dehydrogenase subunit B; Validated

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1383907..1395584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026768.3 → XP_016882257.2  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X1

      UniProtKB/TrEMBL
      C9J844, Q6ZS38

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1353497..1365582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320913.1 → XP_054176888.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X2

    2. XM_054320912.1 → XP_054176887.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X1

      UniProtKB/TrEMBL
      C9J844, Q6ZS38
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75251.3 GenPept UniProtKB/Swiss-Prot:O75251

    Gene LinkOut

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

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