ID:NDUS2_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; EC=1.6.5.3; EC=1.6.99.3; AltName: Full=Complex I-49kD; Short=CI-49kD; AltName: Full=NADH-ubiquinone oxidoreductase 49 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 4Fe-4S cluster. SUBUNIT: Complex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3. INTERACTION: O75489:NDUFS3; NbExp=5; IntAct=EBI-1224806, EBI-1224896; SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. DISEASE: Defects in NDUFS2 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. SIMILARITY: Belongs to the complex I 49 kDa subunit family.
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 O75306
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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.
Biological Process: GO:0006120 mitochondrial electron transport, NADH to ubiquinone GO:0006979 response to oxidative stress GO:0032981 mitochondrial respiratory chain complex I assembly GO:0042775 mitochondrial ATP synthesis coupled electron transport GO:0055114 oxidation-reduction process
BC008868 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:15322 IMAGE:4131430), complete cds. AK301641 - Homo sapiens cDNA FLJ53932 complete cds, highly similar to NADH-ubiquinone oxidoreductase 49 kDa subunit, mitochondrial precursor (EC 1.6.5.3). AK315977 - Homo sapiens cDNA, FLJ78876 complete cds, highly similar to NADH-ubiquinone oxidoreductase 49 kDa subunit, mitochondrial precursor (EC 1.6.5.3). AK314807 - Homo sapiens cDNA, FLJ95682. BC000170 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:5127 IMAGE:2899956), complete cds. AF013160 - Homo sapiens NADH dehydrogenase-ubiquinone Fe-S protein 2 precursor mRNA, nuclear gene encoding mitochondrial protein, complete cds. AF050640 - Homo sapiens NADH-ubiquinone oxidoreductase NDUFS2 subunit mRNA, nuclear gene encoding mitochondrial protein, complete cds. AK222618 - Homo sapiens mRNA for NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) variant, clone: CBL00455. AK309871 - Homo sapiens cDNA, FLJ99912. BC001456 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:1957 IMAGE:3138814), complete cds. DQ894087 - Synthetic construct Homo sapiens clone IMAGE:100008547; FLH167560.01L; RZPDo839C0589D NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2) gene, encodes complete protein. Z36812 - H.sapiens (xs16) mRNA, 372bp. JD024082 - Sequence 5106 from Patent EP1572962. JD031550 - Sequence 12574 from Patent EP1572962. JD507745 - Sequence 488769 from Patent EP1572962. JD201212 - Sequence 182236 from Patent EP1572962. JD165099 - Sequence 146123 from Patent EP1572962. JD291247 - Sequence 272271 from Patent EP1572962. JD280242 - Sequence 261266 from Patent EP1572962. JD101638 - Sequence 82662 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-3781 - aerobic respiration I (cytochrome c)
Reactome (by CSHL, EBI, and GO)
Protein O75306 (Reactome details) participates in the following event(s):
R-HSA-6800868 NDUF subunits bind to form the IP subcomplex R-HSA-6799203 IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 R-HSA-6799178 Intermediate 1 binds HP subcomplex to form Intermediate 2 R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex 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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
