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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
19
Cytoband
q13.2
Chromosome location (bp)
41397808 - 41425002
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Potassium, Thiamine pyrophosphate
Gene summary (Entrez)i
Useful information about the gene from Entrez
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]...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 Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted 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 amino acid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0003863[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005947[mitochondrial alpha-ketoglutarate dehydrogenase complex] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0016831[carboxy-lyase activity] GO:0046872[metal ion binding]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SCAMPI predicted membrane 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 amino acid metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0003863[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005947[mitochondrial alpha-ketoglutarate dehydrogenase complex] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor] GO:0016831[carboxy-lyase activity] GO:0046872[metal ion binding]
Metabolic proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism
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GO:0003863[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity] GO:0005759[mitochondrial matrix] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
Metabolic proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism
Show all
GO:0003863[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity] GO:0005759[mitochondrial matrix] GO:0009083[branched-chain amino acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016624[oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism
The Human Protein Atlas project is funded
