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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 Plasma 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
p23.3
Chromosome location (bp)
26190635 - 26244672
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway 1,2,3,4. The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA 5. Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids 6. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA described here carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities while the trifunctional enzyme subunit beta/HADHB bears the 3-ketoacyl-CoA thiolase activity 7,8,9. Independently of the subunit beta, the trifunctional enzyme subunit alpha/HADHA also has a monolysocardiolipin acyltransferase activity 10. It acylates monolysocardiolipin into cardiolipin, a major mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes in the generation of ATP 11. Allows the acylation of monolysocardiolipin with different acyl-CoA substrates including oleoyl-CoA for which it displays the highest activity 12....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Fatty acid metabolism, Lipid metabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Lyases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid 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:0000062[fatty-acyl-CoA binding] GO:0003824[catalytic activity] GO:0003857[3-hydroxyacyl-CoA dehydrogenase activity] GO:0003985[acetyl-CoA C-acetyltransferase activity] GO:0003988[acetyl-CoA C-acyltransferase activity] GO:0004300[enoyl-CoA hydratase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006635[fatty acid beta-oxidation] GO:0008152[metabolic process] GO:0009410[response to xenobiotic stimulus] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016507[mitochondrial fatty acid beta-oxidation multienzyme complex] GO:0016508[long-chain-enoyl-CoA hydratase activity] GO:0016509[long-chain-3-hydroxyacyl-CoA dehydrogenase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0016740[transferase activity] GO:0016829[lyase activity] GO:0032868[response to insulin] GO:0035965[cardiolipin acyl-chain remodeling] GO:0042645[mitochondrial nucleoid] GO:0044877[protein-containing complex binding] GO:0051287[NAD binding] GO:0070403[NAD+ binding]
Metabolic proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0003857[3-hydroxyacyl-CoA dehydrogenase activity] GO:0004300[enoyl-CoA hydratase activity] GO:0005739[mitochondrion] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006635[fatty acid beta-oxidation] GO:0016491[oxidoreductase activity] GO:0016507[mitochondrial fatty acid beta-oxidation multienzyme complex] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0016829[lyase activity] GO:0070403[NAD+ binding]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0003857[3-hydroxyacyl-CoA dehydrogenase activity] GO:0004300[enoyl-CoA hydratase activity] GO:0005739[mitochondrion] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006635[fatty acid beta-oxidation] GO:0016491[oxidoreductase activity] GO:0016507[mitochondrial fatty acid beta-oxidation multienzyme complex] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0016829[lyase activity] GO:0070403[NAD+ binding]
The Human Protein Atlas project is funded
