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

Gene ID: 374291, updated on 5-Mar-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
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Genomic context

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Location:
19p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1383907..1395584)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1353497..1365582)
105.20220307 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. No association between genetic polymorphisms of the NDUFS7 gene and schizophrenia in Han Chinese. Ma L, et al. Psychiatr Genet, 2013 Feb. PMID 22935918
  2. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. Koopman WJ, et al. Biochim Biophys Acta, 2008 Jul-Aug. PMID 18435906
  3. 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
  4. A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. Lebon S, et al. Mol Genet Metab, 2007 Apr. PMID 17275378
  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 (79) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. 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.
  5. 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.
  6. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
 PubMed 
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

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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_2023_10

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

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