Human Gene NDUFS6 (uc003jcy.3) Description and Page Index
  Description: Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_004553): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM835452.1, BP225208.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr5:1,801,496-1,816,167 Size: 14,672 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr5:1,801,532-1,816,030 Size: 14,499 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr5:1,801,496-1,816,167)mRNA (may differ from genome)Protein (124 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; AltName: Full=Complex I-13kD-A; Short=CI-13kD-A; AltName: Full=NADH-ubiquinone oxidoreductase 13 kDa-A subunit; Flags: Precursor;
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.
SUBUNIT: Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SIMILARITY: Belongs to the complex I NDUFS6 subunit family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NDUFS6
CDC HuGE Published Literature: NDUFS6

-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFS6
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (960), leigh syndrome (3), mitochondrial metabolism disease (1)
* = 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
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.27 RPKM in Heart - Left Ventricle
Total median expression: 1226.55 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.5036-0.486 Picture PostScript Text
3' UTR -52.10137-0.380 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
IPR016668 - NADH_Ub_cplx-1_Fe-S_6_mit
IPR019401 - Znf_CHCC

Pfam Domains:
PF10276 - Zinc-finger domain

ModBase Predicted Comparative 3D Structure on O75380
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 orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0009055 electron carrier activity

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006631 fatty acid metabolic process
GO:0006936 muscle contraction
GO:0010259 multicellular organism aging
GO:0022904 respiratory electron transport chain
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0035264 multicellular organism growth
GO:0055114 oxidation-reduction process
GO:0061458 reproductive system development
GO:0070584 mitochondrion morphogenesis
GO:0072358 cardiovascular system development

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0016020 membrane
GO:0070469 respiratory chain

-  Descriptions from all associated GenBank mRNAs
  AK022503 - Homo sapiens cDNA FLJ12441 fis, clone NT2RM1000132, highly similar to NADH-ubiquinone oxidoreductase 13 kDa-A subunit, mitochondrial precursor (EC
BC038664 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:40334 IMAGE:5204222), complete cds.
AF044959 - Homo sapiens NADH:ubiquinone oxidoreductase NDUFS6 subunit mRNA, nuclear gene encoding mitochondrial protein, complete cds.
BC046155 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:57685 IMAGE:6047460), complete cds.
CR456880 - Homo sapiens full open reading frame cDNA clone RZPDo834B017D for gene NDUFS6, NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase); complete cds, incl. stopcodon.
HQ257915 - Synthetic construct Homo sapiens clone IMAGE:100072224 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondria> (NDUFS6) gene, encodes complete protein.
KJ891683 - Synthetic construct Homo sapiens clone ccsbBroadEn_01077 NDUFS6 gene, encodes complete protein.
DQ584578 - Homo sapiens piRNA piR-51690, complete sequence.
JD251290 - Sequence 232314 from Patent EP1572962.
JD491354 - Sequence 472378 from Patent EP1572962.
JD427211 - Sequence 408235 from Patent EP1572962.

-  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

BioCyc Knowledge Library
PWY-3781 - aerobic respiration -- electron donor II
PWY0-1334 - NADH to cytochrome bd oxidase electron transfer
PWY0-1335 - NADH to cytochrome bo oxidase electron transfer

Reactome (by CSHL, EBI, and GO)

Protein O75380 (Reactome details) participates in the following event(s):

R-HSA-6800870 NDUF subunits bind to form the FP subcomplex
R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
R-HSA-163217 Complex I oxidises NADH to NAD+, reduces CoQ to QH2
R-HSA-6799198 Complex I biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NDUS6_HUMAN, NM_004553, NP_004544, O75380
UCSC ID: uc003jcy.3
RefSeq Accession: NM_004553
Protein: O75380 (aka NDUS6_HUMAN)
CCDS: CCDS3866.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_004553.4
exon count: 4CDS single in 3' UTR: no RNA size: 554
ORF size: 375CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 575.00frame shift in genome: no % Coverage: 98.92
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.