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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).
Cancer-related genes Citric acid cycle related proteins 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
p15
Chromosome location (bp)
63588609 - 63607197
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH 1,2. Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation 3. Catalyzes the reduction of 2-oxoglutarate to 2-hydroxyglutarate, leading to elevated reactive oxygen species (ROS) 4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Tricarboxylic acid cycle
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 an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]...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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Citric acid cycle related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0006108[malate metabolic process] GO:0016491[oxidoreductase activity] GO:0016615[malate dehydrogenase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0006108[malate metabolic process] GO:0016491[oxidoreductase activity] GO:0016615[malate dehydrogenase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Citric acid cycle related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Citric acid cycle related proteins Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
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GO:0003824[catalytic activity] GO:0005813[centrosome] GO:0005829[cytosol] GO:0006099[tricarboxylic acid cycle] GO:0006108[malate metabolic process] GO:0016491[oxidoreductase activity] GO:0016615[malate dehydrogenase activity] GO:0016616[oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor] GO:0019752[carboxylic acid metabolic process] GO:0030060[L-malate dehydrogenase activity] GO:0047995[hydroxyphenylpyruvate reductase activity]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Citric acid cycle related proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Potential drug targets Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
