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Aliases for NDUFA10 Gene

Aliases for NDUFA10 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A10 2 3 5
  • NADH-Ubiquinone Oxidoreductase 42 KDa Subunit 3 4
  • Complex I 42kDa Subunit 2 3
  • CI-42KD 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 10, Mitochondrial 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 10 (42kD) 2
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 10, 42kDa 2
  • Complex I-42kD 4
  • CI-42k 3

External Ids for NDUFA10 Gene

Previous GeneCards Identifiers for NDUFA10 Gene

  • GC02P240548
  • GC02P241389
  • GC02M240854
  • GC02M241220
  • GC02M240620
  • GC02M240548
  • GC02M232656

Summaries for NDUFA10 Gene

Entrez Gene Summary for NDUFA10 Gene

  • The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]

GeneCards Summary for NDUFA10 Gene

NDUFA10 (NADH:Ubiquinone Oxidoreductase Subunit A10) is a Protein Coding gene. Diseases associated with NDUFA10 include Leigh Syndrome and Leigh Syndrome With Leukodystrophy. Among its related pathways are Metabolism 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 nucleoside kinase activity.

UniProtKB/Swiss-Prot for NDUFA10 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 NDUFA10 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA10 Gene

Genomics for NDUFA10 Gene

Regulatory Elements for NDUFA10 Gene

Enhancers for NDUFA10 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
GH02F239952 0.6 Ensembl ENCODE 40.7 +71.6 71593 2.5 CTCF PKNOX1 ESRRA MAZ MNT ZIC2 CTBP1 ZFHX2 POLR2A KLF9 NDUFA10 PRR21 MIR4786 GC02P239972
GH02F239966 0.7 FANTOM5 40.6 +58.6 58615 0.2 TFAP4 RFX1 RFX3 RAD21 NDUFA10 OR6B2 GC02P239972 MIR4786
GH02F240023 0.4 ENCODE 33.6 +0.4 371 2.6 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ETS1 GLIS2 ZNF143 NDUFA10 GPR35 PIR31958
GH02F239926 1.6 FANTOM5 Ensembl ENCODE 25.1 +97.7 97693 2.2 ZBTB40 RAD21 YY1 CHAMP1 GLIS2 SCRT2 RCOR1 FOS CREM EGR2 NDUFA10 PRR21 OR6B3 GC02P239934 GC02P239887
GH02F239938 0.6 Ensembl 23.6 +87.1 87102 0.2 NDUFA10 GC02P239934 MIR4786
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NDUFA10 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000610665 202 2800 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ETS1 GLIS2 ZNF143

Genomic Location for NDUFA10 Gene

Chromosome:
2
Start:
239,892,450 bp from pter
End:
240,025,402 bp from pter
Size:
132,953 bases
Orientation:
Minus strand

Genomic View for NDUFA10 Gene

Genes around NDUFA10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA10 Gene

Proteins for NDUFA10 Gene

  • Protein details for NDUFA10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95299-NDUAA_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
    Protein Accession:
    O95299
    Secondary Accessions:
    • Q8WXC9

    Protein attributes for NDUFA10 Gene

    Size:
    355 amino acids
    Molecular mass:
    40751 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This a component of the hydrophobic protein fraction.

    Alternative splice isoforms for NDUFA10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA10 Gene

Post-translational modifications for NDUFA10 Gene

  • Ubiquitination at Lys 48, Lys 102, Lys 243, Lys 277, Lys 280, Lys 285, Lys 338, and Lys 350
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NDUFA10

No data available for DME Specific Peptides for NDUFA10 Gene

Domains & Families for NDUFA10 Gene

Protein Domains for NDUFA10 Gene

Suggested Antigen Peptide Sequences for NDUFA10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95299

UniProtKB/Swiss-Prot:

NDUAA_HUMAN :
  • Belongs to the complex I NDUFA10 subunit family.
Family:
  • Belongs to the complex I NDUFA10 subunit family.
genes like me logo Genes that share domains with NDUFA10: view

Function for NDUFA10 Gene

Molecular function for NDUFA10 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase 10 (Q reductase),42kDa,component alpha 10,hydrophobic fraction of the complex I,multisubunit enzyme of oxidative phosphorylation (OXPHOS),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 NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
genes like me logo Genes that share ontologies with NDUFA10: view
genes like me logo Genes that share phenotypes with NDUFA10: view

Human Phenotype Ontology for NDUFA10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA10 Gene

Localization for NDUFA10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA10 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA10 Gene COMPARTMENTS Subcellular localization image for NDUFA10 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix IEA --
GO:0043209 myelin sheath IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFA10: view

Pathways & Interactions for NDUFA10 Gene

genes like me logo Genes that share pathways with NDUFA10: view

Gene Ontology (GO) - Biological Process for NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS,TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042493 response to drug IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA10: view

No data available for SIGNOR curated interactions for NDUFA10 Gene

Drugs & Compounds for NDUFA10 Gene

(5) Drugs for NDUFA10 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 NDUFA10 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 NDUFA10: view

Transcripts for NDUFA10 Gene

Unigene Clusters for NDUFA10 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA10 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9: -

Relevant External Links for NDUFA10 Gene

GeneLoc Exon Structure for
NDUFA10
ECgene alternative splicing isoforms for
NDUFA10

Expression for NDUFA10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFA10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFA10 Gene

This gene is overexpressed in Heart (15.7) and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFA10 Gene



Protein tissue co-expression partners for NDUFA10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA10 Gene:

NDUFA10

SOURCE GeneReport for Unigene cluster for NDUFA10 Gene:

Hs.277677
genes like me logo Genes that share expression patterns with NDUFA10: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFA10 Gene

Orthologs for NDUFA10 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA10 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia LOC608244 34
  • 82.98 (n)
NDUFA10 35
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA10 34 35
  • 82.12 (n)
mouse
(Mus musculus)
Mammalia Ndufa10 34 16 35
  • 79.06 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa10 34
  • 77.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA10 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFA10 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA10 34 35
  • 65.21 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA10 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa10 34
  • 62.2 (n)
Str.5172 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25913 34
zebrafish
(Danio rerio)
Actinopterygii ndufa10 34 35
  • 61.5 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta ND42 36 34 35
  • 48.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011130 34
  • 47.21 (n)
worm
(Caenorhabditis elegans)
Secernentea nuo-4 34 35
  • 43.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.645 35
  • 23 (a)
OneToOne
Species where no ortholog for NDUFA10 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)
  • 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 NDUFA10 Gene

ENSEMBL:
Gene Tree for NDUFA10 (if available)
TreeFam:
Gene Tree for NDUFA10 (if available)

Paralogs for NDUFA10 Gene

No data available for Paralogs for NDUFA10 Gene

Variants for NDUFA10 Gene

Sequence variations from dbSNP and Humsavar for NDUFA10 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs387906872 Pathogenic 240,025,301(-) TAGCC(A/G)TGGCC nc-transcript-variant, reference, missense
rs387906873 Pathogenic 240,021,232(-) GCTGC(A/G)GTACT nc-transcript-variant, reference, missense
rs199648872 Likely pathogenic 239,961,189(+) CAGCT(C/G/T)TGGGG intron-variant
rs200387097 Likely pathogenic 240,014,786(+) CACAT(C/G/T)GATGT nc-transcript-variant, reference, missense
rs13848 Likely benign 240,007,349(+) GAATA(C/T)TGTAA nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for NDUFA10 Gene

Variant ID Type Subtype PubMed ID
dgv2190n106 CNV deletion 24896259
esv2166282 CNV deletion 18987734
esv2423154 CNV deletion 19546169
esv2721886 CNV deletion 23290073
esv2721887 CNV deletion 23290073
esv3561280 CNV deletion 23714750
esv3594789 CNV loss 21293372
esv7678 CNV loss 19470904
nsv1014414 CNV loss 25217958
nsv1072089 CNV deletion 25765185
nsv1148694 CNV deletion 26484159
nsv213273 CNV deletion 16902084
nsv214120 CNV deletion 16902084
nsv215214 CNV deletion 16902084
nsv3235 CNV insertion 18451855
nsv482061 CNV gain 20164927
nsv525278 CNV gain 19592680
nsv834584 CNV gain 17160897
nsv997288 CNV gain 25217958

Variation tolerance for NDUFA10 Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA10 Gene

Human Gene Mutation Database (HGMD)
NDUFA10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA10 Gene

Disorders for NDUFA10 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFA10 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, 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 dna-associated leigh syndrome
  • leigh disease, maternally inherited
mitochondrial dna deletion syndromes
  • mtdna deletion syndromes
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFA10

Genetic Association Database (GAD)
NDUFA10
Human Genome Epidemiology (HuGE) Navigator
NDUFA10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA10
genes like me logo Genes that share disorders with NDUFA10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA10 Gene

Publications for NDUFA10 Gene

  1. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PMID: 9878551) Loeffen J.L.C.M. … Smeitink J.A.M. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 64
  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 64
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  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 64
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 46 64

Products for NDUFA10 Gene

Sources for NDUFA10 Gene

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