ID:NDUAC_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12; AltName: Full=13 kDa differentiation-associated protein; AltName: Full=Complex I-B17.2; Short=CI-B17.2; Short=CIB17.2; AltName: Full=NADH-ubiquinone oxidoreductase subunit B17.2; 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: Complex I is composed of 45 different subunits. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. DISEASE: Defects in NDUFA12 are the cause of 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. SIMILARITY: Belongs to the complex I NDUFA12 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 Q9UI09
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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:0006979 response to oxidative stress GO:0007585 respiratory gaseous exchange GO:0032981 mitochondrial respiratory chain complex I assembly GO:0042775 mitochondrial ATP synthesis coupled electron transport GO:0055114 oxidation-reduction process
AF112208 - Homo sapiens 13kDa differentiation-associated protein mRNA, complete cds. BC005936 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12, mRNA (cDNA clone MGC:14554 IMAGE:4069306), complete cds. AK222619 - Homo sapiens mRNA for 13kDa differentiation-associated protein variant, clone: CAS12232. AF217092 - Homo sapiens NADH:ubiquinone oxidoreductase 17.2-kDa subunit mRNA, complete cds. BT007220 - Homo sapiens 13kDa differentiation-associated protein mRNA, complete cds. CU675197 - Synthetic construct Homo sapiens gateway clone IMAGE:100016697 5' read NDUFA12 mRNA. KJ899220 - Synthetic construct Homo sapiens clone ccsbBroadEn_08614 NDUFA12 gene, encodes complete protein. U34343 - Homo sapiens 13kD differentiation-associated protein mRNA, partial cds.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-3781 - aerobic respiration I (cytochrome c)
Reactome (by CSHL, EBI, and GO)
Protein Q9UI09 (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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
