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Aliases for NDUFS7 Gene

Aliases for NDUFS7 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S7 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7, Mitochondrial 2 3
  • NADH-Ubiquinone Oxidoreductase 20 KDa Subunit 3 4
  • Complex I 20kDa Subunit 2 3
  • Complex I-20kD 3 4
  • PSST Subunit 3 4
  • CI-20KD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7 (20kD) (NADH-Coenzyme Q Reductase) 2
  • Complex I, Mitochondrial Respiratory Chain, 20-KD Subunit 3
  • NADH:Ubiquinone Oxidoreductase PSST Subunit 3
  • NADH-Coenzyme Q Reductase 3
  • EC 1.6.99.5 61
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-20 3
  • MY017 3
  • PSST 3

External Ids for NDUFS7 Gene

Previous GeneCards Identifiers for NDUFS7 Gene

  • GC19P001441
  • GC19P001453
  • GC19P001323
  • GC19P001334
  • GC19P001158

Summaries for NDUFS7 Gene

Entrez Gene Summary for NDUFS7 Gene

  • 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]

GeneCards Summary for NDUFS7 Gene

NDUFS7 (NADH:Ubiquinone Oxidoreductase Core Subunit S7) is a Protein Coding gene. Diseases associated with NDUFS7 include Leigh Syndrome With Leukodystrophy and Leigh Syndrome. Among its related pathways are Doxorubicin Pathway, Pharmacokinetics and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include protease binding and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for NDUFS7 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Gene Wiki entry for NDUFS7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS7 Gene

Genomics for NDUFS7 Gene

Regulatory Elements for NDUFS7 Gene

Enhancers for NDUFS7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around NDUFS7 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFS7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFS7 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFS7 Gene

Chromosome:
19
Start:
1,383,527 bp from pter
End:
1,395,589 bp from pter
Size:
12,063 bases
Orientation:
Plus strand

Genomic View for NDUFS7 Gene

Genes around NDUFS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS7 Gene

Proteins for NDUFS7 Gene

  • Protein details for NDUFS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75251-NDUS7_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
    Protein Accession:
    O75251
    Secondary Accessions:
    • B3KRI2
    • Q2T9H7
    • Q9BV17

    Protein attributes for NDUFS7 Gene

    Size:
    213 amino acids
    Molecular mass:
    23564 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme.
    SequenceCaution:
    • Sequence=AAC27669.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for NDUFS7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS7 Gene

Selected DME Specific Peptides for NDUFS7 Gene

Post-translational modifications for NDUFS7 Gene

  • Ubiquitination at Lys 129
  • Modification sites at PhosphoSitePlus

Domains & Families for NDUFS7 Gene

Gene Families for NDUFS7 Gene

Graphical View of Domain Structure for InterPro Entry

O75251

UniProtKB/Swiss-Prot:

NDUS7_HUMAN :
  • Belongs to the complex I 20 kDa subunit family.
Family:
  • Belongs to the complex I 20 kDa subunit family.
genes like me logo Genes that share domains with NDUFS7: view

Function for NDUFS7 Gene

Molecular function for NDUFS7 Gene

GENATLAS Biochemistry:
NADH ubiquinone dehydrogenase (Q reductase),20kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 7,inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + acceptor = NAD(+) + reduced acceptor.
UniProtKB/Swiss-Prot Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Enzyme Numbers (IUBMB) for NDUFS7 Gene

Gene Ontology (GO) - Molecular Function for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0003954 contributes_to NADH dehydrogenase activity IMP 14749350
GO:0005515 protein binding IPI 15186778
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor NAS 8938450
genes like me logo Genes that share ontologies with NDUFS7: view
genes like me logo Genes that share phenotypes with NDUFS7: view

Human Phenotype Ontology for NDUFS7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFS7 Gene

MGI Knock Outs for NDUFS7:

Animal Model Products

CRISPR Products

miRNA for NDUFS7 Gene

miRTarBase miRNAs that target NDUFS7

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for NDUFS7 Gene

Localization for NDUFS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS7 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFS7 Gene COMPARTMENTS Subcellular localization image for NDUFS7 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
plasma membrane 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with NDUFS7: view

Pathways & Interactions for NDUFS7 Gene

genes like me logo Genes that share pathways with NDUFS7: view

Gene Ontology (GO) - Biological Process for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with NDUFS7: view

No data available for SIGNOR curated interactions for NDUFS7 Gene

Drugs & Compounds for NDUFS7 Gene

(8) Drugs for NDUFS7 Gene - From: DrugBank, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Enzyme Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1676
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1676
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0

(5) Additional Compounds for NDUFS7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with NDUFS7: view

Transcripts for NDUFS7 Gene

Unigene Clusters for NDUFS7 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - -
SP9: - - - -
SP10: - - -
SP11: - -
SP12:

Relevant External Links for NDUFS7 Gene

GeneLoc Exon Structure for
NDUFS7
ECgene alternative splicing isoforms for
NDUFS7

Expression for NDUFS7 Gene

mRNA expression in normal human tissues for NDUFS7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFS7 Gene

This gene is overexpressed in Heart (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NDUFS7 Gene



Protein tissue co-expression partners for NDUFS7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFS7 Gene:

NDUFS7

SOURCE GeneReport for Unigene cluster for NDUFS7 Gene:

Hs.211914
genes like me logo Genes that share expression patterns with NDUFS7: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS7 Gene

Orthologs for NDUFS7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFS7 34
  • 88.17 (n)
  • 90.5 (a)
NDUFS7 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS7 34
  • 87.11 (n)
  • 89.15 (a)
NDUFS7 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs7 34
  • 82.22 (n)
  • 88.1 (a)
Ndufs7 16
Ndufs7 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFS7 34
  • 99.37 (n)
  • 99.53 (a)
NDUFS7 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs7 34
  • 82.62 (n)
  • 87.2 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFS7 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS7 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS7 34
  • 80.07 (n)
  • 86.96 (a)
NDUFS7 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs7 34
  • 66.82 (n)
  • 75.59 (a)
Str.7398 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13717 34
zebrafish
(Danio rerio)
Actinopterygii ndufs7 34
  • 67.76 (n)
  • 75.12 (a)
wufj19d10 34
ndufs7 35
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.983 34
fruit fly
(Drosophila melanogaster)
Insecta CG2014 36
  • 83 (a)
CG9172 36
  • 81 (a)
CG9172 34
  • 73.17 (n)
  • 81.13 (a)
CG2014 35
  • 65 (a)
OneToMany
CG9172 35
  • 62 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003231 34
  • 71.28 (n)
  • 76.73 (a)
worm
(Caenorhabditis elegans)
Secernentea W10D5.2 36
  • 68 (a)
nduf-7 34
  • 64.57 (n)
  • 76.73 (a)
nduf-7 35
  • 65 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11770 34
  • 64.56 (n)
  • 69.47 (a)
soybean
(Glycine max)
eudicotyledons Gma.4356 34
barley
(Hordeum vulgare)
Liliopsida Hv.5857 34
rice
(Oryza sativa)
Liliopsida Os.41838 34
Os05g0533700 34
  • 78 (n)
  • 81.7 (a)
corn
(Zea mays)
Liliopsida Zm.15891 34
bread mold
(Neurospora crassa)
Ascomycetes NCU03953 34
  • 66.17 (n)
  • 64.18 (a)
Species where no ortholog for NDUFS7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFS7 Gene

ENSEMBL:
Gene Tree for NDUFS7 (if available)
TreeFam:
Gene Tree for NDUFS7 (if available)

Paralogs for NDUFS7 Gene

genes like me logo Genes that share paralogs with NDUFS7: view

No data available for Paralogs for NDUFS7 Gene

Variants for NDUFS7 Gene

Sequence variations from dbSNP and Humsavar for NDUFS7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104894705 Mitochondrial complex I deficiency (MT-C1D) 1,391,006(+) TGATC(A/G)TGGCC reference, missense
rs1142530 - 1,388,539(+) GGGCC(C/T)GGCTG reference, missense
rs3065757 -- 1,395,488(-) cggcg(-/GCG/GCGGCG)cTACC downstream-variant-500B
rs3848637 -- 1,383,492(+) GCGCA(C/G)GCGCA upstream-variant-2KB
rs3848638 -- 1,383,650(+) CTTTT(C/G/T)CCCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NDUFS7 Gene

Variant ID Type Subtype PubMed ID
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643389 CNV gain 21293372
esv3643395 CNV loss 21293372
esv3643396 CNV gain 21293372
nsv1055164 CNV gain 25217958
nsv482207 CNV gain 20164927
nsv578278 CNV loss 21841781
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366

Variation tolerance for NDUFS7 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.89; 79.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS7 Gene

Human Gene Mutation Database (HGMD)
NDUFS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS7 Gene

Disorders for NDUFS7 Gene

MalaCards: The human disease database

(9) MalaCards diseases for NDUFS7 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
mitochondrial dna deletion syndromes
  • mtdna deletion syndromes
dysphagia
  • deglutition disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUS7_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10360771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:10330338}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFS7

Genetic Association Database (GAD)
NDUFS7
Human Genome Epidemiology (HuGE) Navigator
NDUFS7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS7
genes like me logo Genes that share disorders with NDUFS7: view

No data available for Genatlas for NDUFS7 Gene

Publications for NDUFS7 Gene

  1. Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. (PMID: 8938450) Hyslop S.J. … Robinson B.H. (Genomics 1996) 2 3 4 22 65
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  3. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. (PMID: 18435906) Koopman W.J. … Willems P.H. (Biochim. Biophys. Acta 2008) 3 22 65
  4. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr J.M. … Deary I.J. (Mech. Ageing Dev. 2008) 3 46 65
  5. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PMID: 17601350) Harris S.E. … Deary I.J. (BMC Genet. 2007) 3 46 65

Products for NDUFS7 Gene

Sources for NDUFS7 Gene

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