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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
6
Cytoband
p22.3
Chromosome location (bp)
24494867 - 24537207
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)....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
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [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 Metabolic proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane 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 Congenital disorders of amino acid metabolism 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:0004777[succinate-semialdehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006105[succinate metabolic process] GO:0006536[glutamate metabolic process] GO:0006807[nitrogen compound metabolic process] GO:0007417[central nervous system development] GO:0009013[succinate-semialdehyde dehydrogenase [NAD(P)+] activity] GO:0009450[gamma-aminobutyric acid catabolic process] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0042135[neurotransmitter catabolic process] GO:0042802[identical protein binding]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane 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 Congenital disorders of amino acid metabolism 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:0004777[succinate-semialdehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0006105[succinate metabolic process] GO:0006536[glutamate metabolic process] GO:0006807[nitrogen compound metabolic process] GO:0007417[central nervous system development] GO:0009013[succinate-semialdehyde dehydrogenase [NAD(P)+] activity] GO:0009448[gamma-aminobutyric acid metabolic process] GO:0009450[gamma-aminobutyric acid catabolic process] GO:0009791[post-embryonic development] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor] GO:0042135[neurotransmitter catabolic process] GO:0042802[identical protein binding]
Metabolic proteins MEMSAT-SVM 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 amino acid metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004777[succinate-semialdehyde dehydrogenase (NAD+) activity] GO:0005739[mitochondrion] GO:0009013[succinate-semialdehyde dehydrogenase [NAD(P)+] activity] GO:0009450[gamma-aminobutyric acid catabolic process] 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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739[mitochondrion] GO:0016491[oxidoreductase activity] GO:0016620[oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor]
The Human Protein Atlas project is funded
