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Aliases for NDUFS6 Gene

Aliases for NDUFS6 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit S6 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6, 13kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 13 KDa-A Subunit 3 4
  • Complex I 13kDa Subunit A 2 3
  • CI-13kD-A 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6 (13kD) (NADH-Coenzyme Q Reductase) 2
  • Complex I, Mitochondrial Respiratory Chain, 13-KD Subunit 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 6 2
  • NADH:Ubiquinone Oxidoreductase NDUFS6 Subunit 3
  • Complex I-13kD-A 4
  • Mitochondrial 2
  • CI-13kA 3
  • CI13KDA 3

External Ids for NDUFS6 Gene

Previous GeneCards Identifiers for NDUFS6 Gene

  • GC05P001942
  • GC05P001834
  • GC05P001854

Summaries for NDUFS6 Gene

Entrez Gene Summary for NDUFS6 Gene

  • This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFS6 Gene

NDUFS6 (NADH:Ubiquinone Oxidoreductase Subunit S6) is a Protein Coding gene. Diseases associated with NDUFS6 include Mitochondrial Complex I Deficiency and Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. GO annotations related to this gene include electron carrier activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFS6 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Gene Wiki entry for NDUFS6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS6 Gene

Genomics for NDUFS6 Gene

Regulatory Elements for NDUFS6 Gene

Enhancers for NDUFS6 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 NDUFS6 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFS6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFS6 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFS6 Gene

Chromosome:
5
Start:
1,801,382 bp from pter
End:
1,816,605 bp from pter
Size:
15,224 bases
Orientation:
Plus strand

Genomic View for NDUFS6 Gene

Genes around NDUFS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS6 Gene

Proteins for NDUFS6 Gene

  • Protein details for NDUFS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75380-NDUS6_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
    Protein Accession:
    O75380

    Protein attributes for NDUFS6 Gene

    Size:
    124 amino acids
    Molecular mass:
    13712 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.

neXtProt entry for NDUFS6 Gene

Proteomics data for NDUFS6 Gene at MOPED

Post-translational modifications for NDUFS6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFS6

No data available for DME Specific Peptides for NDUFS6 Gene

Domains & Families for NDUFS6 Gene

Protein Domains for NDUFS6 Gene

Graphical View of Domain Structure for InterPro Entry

O75380

UniProtKB/Swiss-Prot:

NDUS6_HUMAN :
  • Belongs to the complex I NDUFS6 subunit family.
Family:
  • Belongs to the complex I NDUFS6 subunit family.
genes like me logo Genes that share domains with NDUFS6: view

Function for NDUFS6 Gene

Molecular function for NDUFS6 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),13kDa,component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 6,inner mitochondrial membrane
UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Gene Ontology (GO) - Molecular Function for NDUFS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9647766
genes like me logo Genes that share ontologies with NDUFS6: view
genes like me logo Genes that share phenotypes with NDUFS6: view

Human Phenotype Ontology for NDUFS6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NDUFS6 Gene

miRTarBase miRNAs that target NDUFS6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFS6 Gene

Localization for NDUFS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS6 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFS6 Gene COMPARTMENTS Subcellular localization image for NDUFS6 gene
Compartment Confidence
mitochondrion 5
cytosol 1
extracellular 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFS6 Gene

Pathways & Interactions for NDUFS6 Gene

genes like me logo Genes that share pathways with NDUFS6: view

Gene Ontology (GO) - Biological Process for NDUFS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS,TAS --
GO:0006936 muscle contraction IEA --
GO:0010259 multicellular organism aging IEA --
GO:0022904 respiratory electron transport chain IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with NDUFS6: view

No data available for SIGNOR curated interactions for NDUFS6 Gene

Drugs & Compounds for NDUFS6 Gene

(5) Drugs for NDUFS6 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

(3) Additional Compounds for NDUFS6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with NDUFS6: view

Transcripts for NDUFS6 Gene

mRNA/cDNA for NDUFS6 Gene

Unigene Clusters for NDUFS6 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS6 Gene

No ASD Table

Relevant External Links for NDUFS6 Gene

GeneLoc Exon Structure for
NDUFS6
ECgene alternative splicing isoforms for
NDUFS6

Expression for NDUFS6 Gene

mRNA expression in normal human tissues for NDUFS6 Gene

mRNA differential expression in normal tissues according to GTEx for NDUFS6 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for NDUFS6 Gene

This gene is overexpressed in Heart (11.2), Peripheral blood mononuclear cells (7.4), and Brain (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFS6 Gene



SOURCE GeneReport for Unigene cluster for NDUFS6 Gene Hs.408257

genes like me logo Genes that share expression patterns with NDUFS6: view

Protein tissue co-expression partners for NDUFS6 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NDUFS6 Gene

Orthologs for NDUFS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFS6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFS6 35
  • 83.06 (n)
  • 83.06 (a)
NDUFS6 36
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs6 35
  • 82.76 (n)
  • 84.48 (a)
Ndufs6 16
Ndufs6 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFS6 35
  • 99.73 (n)
  • 100 (a)
NDUFS6 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC679739 35
  • 81.9 (n)
  • 84.48 (a)
dog
(Canis familiaris)
Mammalia NDUFS6 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFS6 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS6 35
  • 71 (n)
  • 75.61 (a)
NDUFS6 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS6 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs6 35
  • 70.59 (n)
  • 74.51 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7070 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15123 35
ndufs6 35
  • 66.67 (n)
  • 74.23 (a)
ndufs6 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009072 35
  • 55.26 (n)
  • 46.85 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8680 35
  • 59 (n)
  • 63.22 (a)
CG8680 36
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nduf-6 35
  • 53.1 (n)
  • 54.65 (a)
nduf-6 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5753 36
  • 38 (a)
OneToOne
Species with no ortholog for NDUFS6:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFS6 Gene

ENSEMBL:
Gene Tree for NDUFS6 (if available)
TreeFam:
Gene Tree for NDUFS6 (if available)

Paralogs for NDUFS6 Gene

Pseudogenes.org Pseudogenes for NDUFS6 Gene

genes like me logo Genes that share paralogs with NDUFS6: view

No data available for Paralogs for NDUFS6 Gene

Variants for NDUFS6 Gene

Sequence variations from dbSNP and Humsavar for NDUFS6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs904760 -- 1,811,365(+) AAAAA(A/C)CAAAA intron-variant
rs1018120 -- 1,806,513(+) GCACG(C/T)GGTGC intron-variant
rs1048092 -- 1,815,906(+) ACAGC(A/C)CCACC reference, missense
rs1048105 -- 1,815,909(+) GCACC(A/C)CCACT reference, missense
rs1048128 -- 1,815,941(+) GTCCC(A/C/G)CAGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NDUFS6 Gene

Variant ID Type Subtype PubMed ID
esv268994 CNV Insertion 20981092
esv272394 CNV Insertion 20981092

Variation tolerance for NDUFS6 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS6 Gene

Human Gene Mutation Database (HGMD)
NDUFS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS6 Gene

Disorders for NDUFS6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFS6 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFS6

Genetic Association Database (GAD)
NDUFS6
Human Genome Epidemiology (HuGE) Navigator
NDUFS6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS6
genes like me logo Genes that share disorders with NDUFS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFS6 Gene

Publications for NDUFS6 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48 67
  2. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PMID: 9763677) Emahazion T. … Brookes A.J. (Cytogenet. Cell Genet. 1998) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for NDUFS6 Gene

Sources for NDUFS6 Gene

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