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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
  • 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-42KD 3
  • CI-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.. Gene Ontology (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

Additional gene information for NDUFA10 Gene

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

Genomics for NDUFA10 Gene

GeneHancer (GH) Regulatory Elements for NDUFA10 Gene

Promoters and enhancers for NDUFA10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J240023 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 683.6 +0.3 341 2.7 HDGF ARID4B SIN3A DMAP1 ZBTB7B IRF4 POLR2B ZNF207 ZNF143 SP3 NDUFA10 GPR35 PIR31958 GC02M240027
GH02J240817 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650 -794.4 -794355 3.7 KLF17 SIN3A ZNF335 GLIS2 SCRT2 EGR2 ZNF398 GLIS1 ZNF341 ZBTB26 KIF1A NDUFA10 C2orf54 AGXT MTERF4 GC02P240756
GH02J239926 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25.1 +97.8 97770 2 GLIS2 CBX5 FOS ATF7 SP3 ATF4 MAFF SMARCA4 KLF1 ZIC2 NDUFA10 OR6B3 PRR21 GC02P239934 GC02P239887
GH02J239952 Enhancer 0.9 Ensembl ENCODE dbSUPER 40.7 +71.6 71593 2.5 ZFHX2 POLR2A MNT ZIC2 EGR2 NDUFA10 PRR21 MIR4786 GC02P239972 GC02P239934
GH02J240134 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 -110.5 -110539 2.5 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 ETS1 POLR2B E2F8 ELK1 COPS9 ANKMY1 OR6B3 NDUFA10 PRR21 CAPN10 OR5S1P GC02P240095
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFA10 gene promoter:
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha
  • GATA-2
  • HOXA5
  • E4BP4
  • RORalpha2
  • ER-alpha

Genomic Locations for NDUFA10 Gene

Genomic Locations for NDUFA10 Gene
chr2:239,892,450-240,025,402
(GRCh38/hg38)
Size:
132,953 bases
Orientation:
Minus strand
chr2:240,831,867-240,964,819
(GRCh37/hg19)
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.

    Three dimensional structures from OCA and Proteopedia for NDUFA10 Gene

    Alternative splice isoforms for NDUFA10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA10 Gene

Post-translational modifications for NDUFA10 Gene

  • Phosphorylation at Ser-250 by PINK1 is required for the binding and/or reduction of the complex I substrate ubiquinone.
  • Ubiquitination at Lys350, Lys338, isoforms=2285, isoforms=2280, isoforms=2277, Lys243, Lys102, and isoforms=248
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NDUFA10
  • Boster Bio Antibodies for NDUFA10

No data available for DME Specific Peptides for NDUFA10 Gene

Domains & Families for NDUFA10 Gene

Gene Families for NDUFA10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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.
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

Phenotypes From GWAS Catalog for NDUFA10 Gene

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA10 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IEA,NAS 9878551
GO:0005759 mitochondrial matrix IEA --
GO:0043209 myelin sheath 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 IEA,TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
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
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NAD Pharma Full agonist, Agonist, Activator 0

(3) Additional Compounds for NDUFA10 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
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:

Clone 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 CGAP 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, 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

Evidence on tissue expression from TISSUES for NDUFA10 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Heart(2.7)
  • Lung(2.7)
  • Muscle(2.6)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NDUFA10: view

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 33
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC608244 33
  • 82.98 (n)
NDUFA10 34
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA10 34 33
  • 82.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa10 16 34 33
  • 79.06 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa10 33
  • 77.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA10 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFA10 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA10 34 33
  • 65.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA10 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa10 33
  • 62.2 (n)
Str.5172 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25913 33
zebrafish
(Danio rerio)
Actinopterygii ndufa10 34 33
  • 61.5 (n)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta ND42 34 35 33
  • 48.35 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011130 33
  • 47.21 (n)
worm
(Caenorhabditis elegans)
Secernentea nuo-4 34 33
  • 43.92 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.645 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA10: view image

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 Variation AA Info Type
rs1028176046 uncertain-significance, Mitochondrial complex I deficiency, Leigh syndrome 239,958,469(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1043927279 uncertain-significance, Leigh syndrome, Mitochondrial complex I deficiency 239,958,020(-) T/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1057519414 pathogenic, Mitochondrial complex I deficiency 240,005,219(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519415 pathogenic, Mitochondrial complex I deficiency 240,021,273(-) A/ATTA coding_sequence_variant, inframe_insertion, non_coding_transcript_variant
rs10933622 likely-benign, Leigh syndrome, Mitochondrial complex I deficiency 239,960,487(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(4) MalaCards diseases for NDUFA10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • ls
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
dysphagia
  • deglutition disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUAA_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:21150889}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFA10

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

No data available for 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 JL … Smeitink JA (Biochemical and biophysical research communications 1998) 2 3 4 58
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 58
  3. NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. (PMID: 21150889) Hoefs SJ … van den Heuvel LP (European journal of human genetics : EJHG 2011) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. 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 (Journal of human genetics 2009) 3 44 58

Products for NDUFA10 Gene

Sources for NDUFA10 Gene

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