ID:NDUF3_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3; FUNCTION: Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). SUBUNIT: Interacts with NDUFAF4, NDUFS2 and NDUFS3. SUBCELLULAR LOCATION: Nucleus (By similarity). Mitochondrion inner membrane. DISEASE: Defects in NDUFAF3 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.
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 Q9BU61
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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.
KJ906106 - Synthetic construct Homo sapiens clone ccsbBroadEn_15776 NDUFAF3 gene, encodes complete protein. JF432596 - Synthetic construct Homo sapiens clone IMAGE:100073833 chromosome 3 open reading frame 60 (C3orf60) gene, encodes complete protein. BC111004 - Homo sapiens chromosome 3 open reading frame 60, mRNA (cDNA clone MGC:117218 IMAGE:5744973), complete cds. AL049955 - Homo sapiens mRNA; cDNA DKFZp564J0123 (from clone DKFZp564J0123). BC002873 - Homo sapiens chromosome 3 open reading frame 60, mRNA (cDNA clone MGC:10527 IMAGE:3945015), complete cds. JD423469 - Sequence 404493 from Patent EP1572962. JD264805 - Sequence 245829 from Patent EP1572962. JD400120 - Sequence 381144 from Patent EP1572962. JD553014 - Sequence 534038 from Patent EP1572962. JD093529 - Sequence 74553 from Patent EP1572962. JD083478 - Sequence 64502 from Patent EP1572962. JD155279 - Sequence 136303 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BU61 (Reactome details) participates in the following event(s):
R-HSA-6799203 IP subcomplex binds NDUFAF3, NDUFAF4, TIMMDC1 to form Intermediate 1 R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I 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-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex 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 
