Human Gene NDUFS6 (uc003jcy.3) Description and Page Index
Description: Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_004553): This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM835452.1, BP225208.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr5:1,801,496-1,816,167 Size: 14,672 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr5:1,801,532-1,816,030 Size: 14,499 Coding Exon Count: 4
ID:NDUS6_HUMAN DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial; AltName: Full=Complex I-13kD-A; Short=CI-13kD-A; AltName: Full=NADH-ubiquinone oxidoreductase 13 kDa-A subunit; Flags: Precursor; 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: Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. SIMILARITY: Belongs to the complex I NDUFS6 subunit family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): NDUFS6 CDC HuGE Published Literature: NDUFS6
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 O75380
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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.
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