Description: Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_021074): The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]. Transcript (Including UTRs) Position: hg19 chr18:9,102,628-9,134,343 Size: 31,716 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr18:9,102,742-9,134,277 Size: 31,536 Coding Exon Count: 8
ID:NDUV2_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; EC=1.6.5.3; EC=1.6.99.3; AltName: Full=NADH-ubiquinone oxidoreductase 24 kDa subunit; Flags: Precursor; FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity). CATALYTIC ACTIVITY: NADH + ubiquinone = NAD(+) + ubiquinol. CATALYTIC ACTIVITY: NADH + acceptor = NAD(+) + reduced acceptor. COFACTOR: Binds 1 2Fe-2S cluster (Potential). SUBUNIT: Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme. SUBCELLULAR LOCATION: Mitochondrion inner membrane. SIMILARITY: Belongs to the complex I 24 kDa subunit family.
bipolar disorder Washizuka, S. et al. 2004, Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees, Biological psychiatry. 2004 Oct;56(7):483-9.
[PubMed 15450783]
Together these findings indicate that the polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder by affecting promoter activity.
cognitive trait Sarah E Harris , et al. BMC genetics 2007 8:43, A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition., BMC genetics 2007 8:43.
[PubMed 17601350]
schizophrenia Washizuka, S. et al. 2006, Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population, Am J Med Genet B Neuropsychiatr Genet 2006.
[PubMed 16508936]
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.
ModBase Predicted Comparative 3D Structure on P19404
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003954 NADH dehydrogenase activity GO:0005515 protein binding GO:0008137 NADH dehydrogenase (ubiquinone) activity GO:0009055 electron carrier activity GO:0016491 oxidoreductase activity GO:0046872 metal ion binding GO:0051536 iron-sulfur cluster binding GO:0051537 2 iron, 2 sulfur cluster binding
Biological Process: GO:0006120 mitochondrial electron transport, NADH to ubiquinone GO:0007399 nervous system development GO:0032981 mitochondrial respiratory chain complex I assembly GO:0048738 cardiac muscle tissue development GO:0055114 oxidation-reduction process
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 P19404 (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
US Server
