Description: Homo sapiens NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (NDUFAF6), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_152416): This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]. Transcript (Including UTRs) Position: hg19 chr8:96,037,214-96,070,944 Size: 33,731 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr8:96,037,237-96,070,165 Size: 32,929 Coding Exon Count: 9
ID:NDUF6_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; AltName: Full=Putative phytoene synthase; Flags: Precursor; FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus. DISEASE: Defects in NDUFAF6 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 NDUFAF6 family. SEQUENCE CAUTION: Sequence=BAG60807.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW91734.1; Type=Erroneous gene model prediction;
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 Q330K2
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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.
AK301414 - Homo sapiens cDNA FLJ57629 complete cds. AY444560 - Homo sapiens putative phytoene synthase mRNA, complete cds. BC028166 - Homo sapiens chromosome 8 open reading frame 38, mRNA (cDNA clone IMAGE:5245422), complete cds. DQ894830 - Synthetic construct Homo sapiens clone IMAGE:100009290; FLH178894.01L; RZPDo839A06129D chromosome 8 open reading frame 38 (C8orf38) gene, encodes complete protein. DQ891641 - Synthetic construct clone IMAGE:100004271; FLH178898.01X; RZPDo839A06130D chromosome 8 open reading frame 38 (C8orf38) gene, encodes complete protein. KJ905613 - Synthetic construct Homo sapiens clone ccsbBroadEn_15248 C8orf38-like gene, encodes complete protein. AK298631 - Homo sapiens cDNA FLJ57417 complete cds. JD364197 - Sequence 345221 from Patent EP1572962. JD176886 - Sequence 157910 from Patent EP1572962. JD042442 - Sequence 23466 from Patent EP1572962. JD167006 - Sequence 148030 from Patent EP1572962. AK023339 - Homo sapiens cDNA FLJ13277 fis, clone OVARC1001044. JD288877 - Sequence 269901 from Patent EP1572962. JD357688 - Sequence 338712 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q330K2 (Reactome details) participates in the following event(s):
R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I 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
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