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Aliases for NDUFS8 Gene

Aliases for NDUFS8 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S8 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8, 23kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 23 KDa Subunit 3 4
  • Complex I 23kDa Subunit 2 3
  • Complex I-23kD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8 (23kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 8 2
  • Mitochondrial 2
  • TYKY Subunit 4
  • EC 1.6.99.5 63
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-23kD 4
  • CI-23k 3
  • CI23KD 3
  • TYKY 3

External Ids for NDUFS8 Gene

Previous GeneCards Identifiers for NDUFS8 Gene

  • GC11P070321
  • GC11P069494
  • GC11P068048
  • GC11P067573
  • GC11P067554
  • GC11P067798
  • GC11P064133

Summaries for NDUFS8 Gene

Entrez Gene Summary for NDUFS8 Gene

  • This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

GeneCards Summary for NDUFS8 Gene

NDUFS8 (NADH:Ubiquinone Oxidoreductase Core Subunit S8) is a Protein Coding gene. Diseases associated with NDUFS8 include leigh syndrome and leigh syndrome with leukodystrophy. Among its related pathways are Alzheimer's disease and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot for NDUFS8 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). May donate electrons to ubiquinone.

Gene Wiki entry for NDUFS8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS8 Gene

Genomics for NDUFS8 Gene

Regulatory Elements for NDUFS8 Gene

Enhancers for NDUFS8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NDUFS8 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFS8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFS8 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFS8 Gene

Chromosome:
11
Start:
68,030,617 bp from pter
End:
68,036,647 bp from pter
Size:
6,031 bases
Orientation:
Plus strand

Genomic View for NDUFS8 Gene

Genes around NDUFS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS8 Gene

Proteins for NDUFS8 Gene

  • Protein details for NDUFS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00217-NDUS8_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
    Protein Accession:
    O00217
    Secondary Accessions:
    • B2RB86
    • Q0VDA8

    Protein attributes for NDUFS8 Gene

    Size:
    210 amino acids
    Molecular mass:
    23705 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits.

neXtProt entry for NDUFS8 Gene

Proteomics data for NDUFS8 Gene at MOPED

Selected DME Specific Peptides for NDUFS8 Gene

Post-translational modifications for NDUFS8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for NDUFS8 Gene

Gene Families for NDUFS8 Gene

Protein Domains for NDUFS8 Gene

Suggested Antigen Peptide Sequences for NDUFS8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00217

UniProtKB/Swiss-Prot:

NDUS8_HUMAN :
  • Contains 2 4Fe-4S ferredoxin-type domains.
  • Belongs to the complex I 23 kDa subunit family.
Domain:
  • Contains 2 4Fe-4S ferredoxin-type domains.
Family:
  • Belongs to the complex I 23 kDa subunit family.
genes like me logo Genes that share domains with NDUFS8: view

Function for NDUFS8 Gene

Molecular function for NDUFS8 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),23kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 8,inner mitochondrial membrane,TYKY subunit required for proper assembly of complex I
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). May donate electrons to ubiquinone.

Enzyme Numbers (IUBMB) for NDUFS8 Gene

Gene Ontology (GO) - Molecular Function for NDUFS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with NDUFS8: view
genes like me logo Genes that share phenotypes with NDUFS8: view

Human Phenotype Ontology for NDUFS8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NDUFS8 Gene

miRTarBase miRNAs that target NDUFS8

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFS8 Gene

Localization for NDUFS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS8 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFS8 Gene COMPARTMENTS Subcellular localization image for NDUFS8 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFS8 Gene

Pathways & Interactions for NDUFS8 Gene

genes like me logo Genes that share pathways with NDUFS8: view

Gene Ontology (GO) - Biological Process for NDUFS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS,TAS --
GO:0044237 cellular metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFS8: view

No data available for SIGNOR curated interactions for NDUFS8 Gene

Drugs & Compounds for NDUFS8 Gene

(6) Drugs for NDUFS8 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(6) Additional Compounds for NDUFS8 Gene - From: HMDB and Novoseek

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 NDUFS8: view

Transcripts for NDUFS8 Gene

Unigene Clusters for NDUFS8 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS8 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - - - - - - - - - - -
SP12: - - - -
SP13: - - -
SP14: -
SP15: - - - - -
SP16: - - - - -

ExUns: 12a · 12b · 12c · 12d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for NDUFS8 Gene

GeneLoc Exon Structure for
NDUFS8
ECgene alternative splicing isoforms for
NDUFS8

Expression for NDUFS8 Gene

mRNA expression in normal human tissues for NDUFS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFS8 Gene

This gene is overexpressed in Heart (9.3) and Brain (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFS8 Gene



SOURCE GeneReport for Unigene cluster for NDUFS8 Gene Hs.90443

genes like me logo Genes that share expression patterns with NDUFS8: view

Protein tissue co-expression partners for NDUFS8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS8 Gene

Orthologs for NDUFS8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFS8 35
  • 89.37 (n)
  • 92.38 (a)
NDUFS8 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS8 35
  • 89.37 (n)
  • 93.33 (a)
NDUFS8 36
  • 92 (a)
OneToMany
NDUFS8 36
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndufs8 35
  • 84.7 (n)
  • 90.82 (a)
Ndufs8 16
Ndufs8 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFS8 35
  • 99.84 (n)
  • 100 (a)
NDUFS8 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs8 35
  • 87.61 (n)
  • 93.72 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFS8 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS8 35
  • 85.13 (n)
  • 91.94 (a)
NDUFS8 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS8 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs8 35
  • 72.19 (n)
  • 87.7 (a)
Str.10935 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33470 35
zebrafish
(Danio rerio)
Actinopterygii ndufs8a 35
  • 76.52 (n)
  • 88.17 (a)
wufb30b07 35
ndufs8a 36
  • 77 (a)
OneToMany
ndufs8b 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ND23 37
  • 82 (a)
ND23 35
  • 75.61 (n)
  • 81.56 (a)
ND23 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001711 35
  • 79.62 (n)
  • 86.29 (a)
worm
(Caenorhabditis elegans)
Secernentea T20H4.5 37
  • 68 (a)
T20H4.5 35
  • 66.48 (n)
  • 75.71 (a)
T20H4.5 36
  • 64 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G16700 35
  • 68.29 (n)
  • 78.66 (a)
soybean
(Glycine max)
eudicotyledons Gma.4918 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3354 35
barley
(Hordeum vulgare)
Liliopsida Hv.3289 35
rice
(Oryza sativa)
Liliopsida Os.11902 35
Os03g0774200 35
  • 69.72 (n)
  • 79.88 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9617 35
corn
(Zea mays)
Liliopsida Zm.14014 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12246 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05009 35
  • 69.28 (n)
  • 75.3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2781 36
  • 73 (a)
OneToOne
Species with no ortholog for NDUFS8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NDUFS8 Gene

ENSEMBL:
Gene Tree for NDUFS8 (if available)
TreeFam:
Gene Tree for NDUFS8 (if available)

Paralogs for NDUFS8 Gene

No data available for Paralogs for NDUFS8 Gene

Variants for NDUFS8 Gene

Sequence variations from dbSNP and Humsavar for NDUFS8 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_019538 Leigh syndrome (LS)
VAR_019539 Leigh syndrome (LS)
rs1051806 -- 68,036,607(+) CGGCC(C/G/T)GCAGC utr-variant-3-prime
rs1104739 -- 68,035,440(-) TTGTT(G/T)TTGTT intron-variant
rs1703438 -- 68,036,456(-) CTGCA(G/T)GTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFS8 Gene

Variant ID Type Subtype PubMed ID
nsv468606 CNV Gain 19166990
dgv394e1 CNV Complex 17122850
nsv469856 CNV Gain 16826518
nsv8836 CNV Gain 18304495
dgv1203n71 CNV Loss 21882294
dgv1204n71 CNV Loss 21882294
nsv825963 CNV Gain 20364138
dgv156n27 CNV Loss 19166990
dgv1205n71 CNV Loss 21882294
nsv468615 CNV Loss 19166990
nsv469964 CNV Loss 18288195
dgv1207n71 CNV Loss 21882294
nsv897850 CNV Loss 21882294
nsv897852 CNV Gain 21882294
esv2744657 CNV Deletion 23290073
esv2672926 CNV Deletion 23128226
dgv1208n71 CNV Loss 21882294

Variation tolerance for NDUFS8 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS8 Gene

HapMap Linkage Disequilibrium report
NDUFS8
Human Gene Mutation Database (HGMD)
NDUFS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS8 Gene

Disorders for NDUFS8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFS8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

NDUS8_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:9837812}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NDUFS8

Genetic Association Database (GAD)
NDUFS8
Human Genome Epidemiology (HuGE) Navigator
NDUFS8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS8
genes like me logo Genes that share disorders with NDUFS8: view

No data available for Genatlas for NDUFS8 Gene

Publications for NDUFS8 Gene

  1. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. (PMID: 9666055) de Sury R. … Issartel J.-P. (Gene 1998) 2 3 4 23 67
  2. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. (PMID: 9837812) Loeffen J. … van den Heuvel L. (Am. J. Hum. Genet. 1998) 3 23 25
  3. cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. (PMID: 9116042) Procaccio V. … Issartel J.-P. (Biochim. Biophys. Acta 1997) 2 3 23
  4. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. (PMID: 15159508) Procaccio V. … Wallace D.C. (Neurology 2004) 3 23
  5. YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit. (PMID: 11955626) Lescuyer P. … Lunardi J. (Biochim. Biophys. Acta 2002) 3 23

Products for NDUFS8 Gene

Sources for NDUFS8 Gene

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