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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q33.3
Chromosome location (bp)
206114817 - 206159509
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor 1,2. Essential for catalysing the entry and efficient transfer of electrons within complex I 3. Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes 4,5....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase, Translocase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Electron transport, Respiratory chain, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0008137[NADH dehydrogenase (ubiquinone) activity] GO:0008637[apoptotic mitochondrial changes] GO:0009055[electron transfer activity] GO:0009060[aerobic respiration] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0042773[ATP synthesis coupled electron transport] GO:0042776[proton motive force-driven mitochondrial ATP synthesis] GO:0045333[cellular respiration] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070469[respirasome] GO:0072593[reactive oxygen species metabolic process]
Enzymes ENZYME proteins Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0008137[NADH dehydrogenase (ubiquinone) activity] GO:0008637[apoptotic mitochondrial changes] GO:0009055[electron transfer activity] GO:0009060[aerobic respiration] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0042773[ATP synthesis coupled electron transport] GO:0042776[proton motive force-driven mitochondrial ATP synthesis] GO:0045333[cellular respiration] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070469[respirasome] GO:0072593[reactive oxygen species metabolic process]
Enzymes ENZYME proteins Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0008137[NADH dehydrogenase (ubiquinone) activity] GO:0008637[apoptotic mitochondrial changes] GO:0009055[electron transfer activity] GO:0009060[aerobic respiration] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0042773[ATP synthesis coupled electron transport] GO:0042776[proton motive force-driven mitochondrial ATP synthesis] GO:0045333[cellular respiration] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070469[respirasome] GO:0072593[reactive oxygen species metabolic process]
Enzymes ENZYME proteins Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0008137[NADH dehydrogenase (ubiquinone) activity] GO:0008637[apoptotic mitochondrial changes] GO:0009055[electron transfer activity] GO:0009060[aerobic respiration] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0042773[ATP synthesis coupled electron transport] GO:0042776[proton motive force-driven mitochondrial ATP synthesis] GO:0045333[cellular respiration] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070469[respirasome] GO:0072593[reactive oxygen species metabolic process]
Enzymes ENZYME proteins Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0008137[NADH dehydrogenase (ubiquinone) activity] GO:0008637[apoptotic mitochondrial changes] GO:0009055[electron transfer activity] GO:0009060[aerobic respiration] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0042773[ATP synthesis coupled electron transport] GO:0042776[proton motive force-driven mitochondrial ATP synthesis] GO:0045333[cellular respiration] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070469[respirasome] GO:0072593[reactive oxygen species metabolic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005758[mitochondrial intermembrane space] GO:0005759[mitochondrial matrix] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0008137[NADH dehydrogenase (ubiquinone) activity] GO:0008637[apoptotic mitochondrial changes] GO:0009055[electron transfer activity] GO:0009060[aerobic respiration] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016651[oxidoreductase activity, acting on NAD(P)H] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0042773[ATP synthesis coupled electron transport] GO:0042776[proton motive force-driven mitochondrial ATP synthesis] GO:0045333[cellular respiration] GO:0046034[ATP metabolic process] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0051881[regulation of mitochondrial membrane potential] GO:0070469[respirasome] GO:0072593[reactive oxygen species metabolic process]
B4DJ81 [Direct mapping] NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; cDNA FLJ60586, highly similar to NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
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Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
