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Aliases for NDUFS7 Gene

Aliases for NDUFS7 Gene

  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase) 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
  • PSST 3 6
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7 (20kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7, Mitochondrial 3
  • Complex I, Mitochondrial Respiratory Chain, 20-KD Subunit 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7 2
  • NADH:Ubiquinone Oxidoreductase PSST Subunit 3
  • NADH-Coenzyme Q Reductase 3
  • Mitochondrial 2
  • EC 1.6.99.5 63
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-20 3
  • MY017 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 Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase)) is a Protein Coding gene. Diseases associated with NDUFS7 include leigh syndrome and leigh syndrome with leukodystrophy. Among its related pathways are Metabolism and Metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NDUFS7 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 [4Fe-4S] cluster.;
    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

Proteomics data for NDUFS7 Gene at MOPED

Selected DME Specific Peptides for NDUFS7 Gene

Post-translational modifications for NDUFS7 Gene

  • Ubiquitination at Lys129
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFS7 Gene

Domains for NDUFS7 Gene

Gene Families for NDUFS7 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Graphical View of Domain Structure for InterPro Entry

O75251

UniProtKB/Swiss-Prot:

NDUS7_HUMAN :
  • O75251
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

Animal Model Products

CRISPR Products

miRNA for NDUFS7 Gene

miRTarBase miRNAs that target NDUFS7

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS7

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0043005 neuron projection IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with NDUFS7: view

Pathways for NDUFS7 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NDUFS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 8938450
GO:0022904 respiratory electron transport chain TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 11112787
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFS7: view

Compounds for NDUFS7 Gene

(9) HMDB Compounds for NDUFS7 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(2) Drugbank Compounds for NDUFS7 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Doxorubicin
  • Adria
23214-92-8 enzyme
NADH
  • beta-DPNH
606-68-8 target
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS7

Primer 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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NDUFS7 Gene

SOURCE GeneReport for Unigene cluster for NDUFS7 Gene Hs.211914

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia NDUFS7 35
  • 99.37 (n)
  • 99.53 (a)
NDUFS7 36
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS7 35
  • 88.17 (n)
  • 90.5 (a)
NDUFS7 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS7 35
  • 87.11 (n)
  • 89.15 (a)
NDUFS7 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs7 35
  • 82.22 (n)
  • 88.1 (a)
Ndufs7 16
Ndufs7 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS7 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS7 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs7 35
  • 82.62 (n)
  • 87.2 (a)
chicken
(Gallus gallus)
Aves NDUFS7 35
  • 80.07 (n)
  • 86.96 (a)
NDUFS7 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13717 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs7 35
  • 66.82 (n)
  • 75.59 (a)
Str.7398 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.983 35
zebrafish
(Danio rerio)
Actinopterygii ndufs7 35
  • 67.76 (n)
  • 75.12 (a)
ndufs7 36
  • 72 (a)
OneToOne
wufj19d10 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003231 35
  • 71.28 (n)
  • 76.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2014 36
  • 65 (a)
OneToMany
CG9172 35
  • 73.17 (n)
  • 81.13 (a)
CG9172 36
  • 62 (a)
OneToMany
CG9172 37
  • 81 (a)
CG2014 37
  • 83 (a)
worm
(Caenorhabditis elegans)
Secernentea nduf-7 35
  • 64.57 (n)
  • 76.73 (a)
nduf-7 36
  • 65 (a)
OneToOne
W10D5.2 37
  • 68 (a)
soybean
(Glycine max)
eudicotyledons Gma.4356 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G11770 35
  • 64.56 (n)
  • 69.47 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5857 35
corn
(Zea mays)
Liliopsida Zm.15891 35
rice
(Oryza sativa)
Liliopsida Os.41838 35
Os05g0533700 35
  • 78 (n)
  • 81.7 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03953 35
  • 66.17 (n)
  • 64.18 (a)
Species with no ortholog for NDUFS7:
  • 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 MAF
rs266816 -- 1,394,578(+) CCTGC(A/G)GACCG intron-variant, utr-variant-3-prime
rs502121 -- 1,387,300(-) ACTCC(A/G)GCAAT intron-variant
rs537742 -- 1,391,788(+) TTGCC(C/T)TCATT intron-variant
rs619693 Benign 1,388,813(+) CTGTG(C/T)CCGTG intron-variant
rs809359 -- 1,391,810(+) TCCCC(A/G)TAACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv910292 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv1055e1 CNV Complex 17122850
dgv3575n71 CNV Loss 21882294
dgv3580n71 CNV Loss 21882294
dgv3583n71 CNV Loss 21882294
dgv3588n71 CNV Loss 21882294
dgv3589n71 CNV Loss 21882294
dgv3595n71 CNV Loss 21882294
dgv3596n71 CNV Loss 21882294
dgv3597n71 CNV Loss 21882294
esv32942 CNV Gain+Loss 17666407
dgv3598n71 CNV Loss 21882294
nsv910488 CNV Loss 21882294
nsv910489 CNV Loss 21882294
nsv910491 CNV Gain+Loss 21882294
nsv910492 CNV Loss 21882294
dgv3599n71 CNV Loss 21882294
nsv910494 CNV Loss 21882294
essv18235 CNV CNV 17122850
nsv833705 CNV Loss 17160897
nsv482207 CNV Gain 20164927
nsv910499 CNV Loss 21882294
nsv910500 CNV Loss 21882294

Relevant External Links for NDUFS7 Gene

HapMap Linkage Disequilibrium report
NDUFS7
Human Gene Mutation Database (HGMD)
NDUFS7

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

Disorders for NDUFS7 Gene

(1) OMIM Diseases for NDUFS7 Gene (601825)

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.

(1) University of Copenhagen DISEASES for NDUFS7 Gene

Relevant External Links for NDUFS7

Genetic Association Database (GAD)
NDUFS7
Human Genome Epidemiology (HuGE) Navigator
NDUFS7
genes like me logo Genes that share disorders with NDUFS7: view

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 23 25
  2. Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. (PMID: 18435906) Koopman W.J. … Willems P.H. (Biochim. Biophys. Acta 2008) 3 23
  3. Human mitochondrial complex I in health and disease. (PMID: 10330338) Smeitink J. … van den Heuvel L. (Am. J. Hum. Genet. 1999) 3 4
  4. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. (PMID: 10360771) Triepels R.H. … Smeitink J.A.M. (Ann. Neurol. 1999) 3 4
  5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J. … Capaldi R.A. (J. Biol. Chem. 2003) 3 4

Products for NDUFS7 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NDUFS7
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS7
    • Block miRNA regulation of NDUFS7 using miScript Target Protectors
    • antibodies-online proteins for NDUFS7
    • antibodies-online antibodies for NDUFS7
    • antibodies-online kits for NDUFS7

    Sources for NDUFS7 Gene

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