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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
5
Cytoband
q23.2
Chromosome location (bp)
126531200 - 126595362
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism....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.
NAD
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [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 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 MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP 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 Nervous system diseases Epilepsy 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:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0004043[L-aminoadipate-semialdehyde dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006081[cellular aldehyde metabolic process] GO:0007605[sensory perception of sound] GO:0008802[betaine-aldehyde dehydrogenase activity] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0019285[glycine betaine biosynthetic process from choline] GO:0042426[choline catabolic process] GO:0042802[identical protein binding] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity] GO:0070062[extracellular exosome]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP 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 Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0004043[L-aminoadipate-semialdehyde dehydrogenase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006081[cellular aldehyde metabolic process] GO:0007605[sensory perception of sound] GO:0008802[betaine-aldehyde dehydrogenase activity] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0019285[glycine betaine biosynthetic process from choline] GO:0042426[choline catabolic process] GO:0042802[identical protein binding] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity] GO:0070062[extracellular exosome]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
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GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity]
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004029[aldehyde dehydrogenase (NAD+) activity] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0043878[glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity]
The Human Protein Atlas project is funded
