Human Gene NDUFA10 (uc010fzc.2)
  Description: Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_004544): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr2:240,922,934-240,964,819 Size: 41,886 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr2:240,922,934-240,964,718 Size: 41,785 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:240,922,934-240,964,819)mRNA (may differ from genome)Protein (429 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NDUFA10
CDC HuGE Published Literature: NDUFA10

-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFA10
Diseases sorted by gene-association score: leigh syndrome* (776), leigh syndrome with leukodystrophy* (85), mitochondrial complex i deficiency* (78)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.46 RPKM in Brain - Cerebellum
Total median expression: 896.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.00101-0.455 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002624 - Deoxynucleoside_kinase
IPR015828 - NADH_UbQ_OxRdtase_42KD_su

Pfam Domains:
PF01712 - Deoxynucleoside kinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q8WXC9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK290778 - Homo sapiens cDNA FLJ76144 complete cds, highly similar to Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), mRNA.
AF087661 - Homo sapiens NADH-ubiquinone oxidoreductase 42 kDa subunit mRNA, complete cds, nuclear gene encoding mitochondrial protein.
BC003417 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa, mRNA (cDNA clone MGC:5103 IMAGE:3451514), complete cds.
AF087854 - Homo sapiens NADH dehydrogenase mRNA, complete cds.
AK091719 - Homo sapiens cDNA FLJ34400 fis, clone HCHON2001434, highly similar to NADH-UBIQUINONE OXIDOREDUCTASE 42 KDA SUBUNIT, MITOCHONDRIAL PRECURSOR (EC 1.6.5.3).
AB209440 - Homo sapiens mRNA for NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa precursor variant protein.
KJ897228 - Synthetic construct Homo sapiens clone ccsbBroadEn_06622 NDUFA10 gene, encodes complete protein.
DQ891011 - Synthetic construct clone IMAGE:100003641; FLH168506.01X; RZPDo839H1092D NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10) gene, encodes complete protein.
DQ894191 - Synthetic construct Homo sapiens clone IMAGE:100008651; FLH168502.01L; RZPDo839H1091D NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10) gene, encodes complete protein.
AF453834 - Homo sapiens NADH dehydrogenase ubiquinone 1 alpha subcomplex mRNA, complete cds.
CU678462 - Synthetic construct Homo sapiens gateway clone IMAGE:100017081 5' read NDUFA10 mRNA.
BC031332 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa, mRNA (cDNA clone MGC:45660 IMAGE:4872196), complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

-  Other Names for This Gene
  Alternate Gene Symbols: AF453834, NM_004544, NP_004535, Q8WXC9, Q8WXC9_HUMAN
UCSC ID: uc010fzc.2
RefSeq Accession: NM_004544
Protein: Q8WXC9

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NDUFA10:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AF453834.1
exon count: 11CDS single in 3' UTR: no RNA size: 1290
ORF size: 1290CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2134.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.