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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 FDA approved drug targets Human disease related genes Metabolic proteins Plasma proteins
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
16
Cytoband
p13.2
Chromosome location (bp)
8674596 - 8784575
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 conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively 1,2. Can also convert delta-aminovalerate and beta-alanine (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Aminotransferase, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Neurotransmitter degradation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found 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 Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs 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)
Show all
GO:0001666[response to hypoxia] GO:0003824[catalytic activity] GO:0003867[4-aminobutyrate transaminase activity] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0007568[aging] GO:0007620[copulation] GO:0007626[locomotory behavior] GO:0008483[transaminase activity] GO:0009410[response to xenobiotic stimulus] GO:0009448[gamma-aminobutyric acid metabolic process] GO:0009449[gamma-aminobutyric acid biosynthetic process] GO:0009450[gamma-aminobutyric acid catabolic process] GO:0010039[response to iron ion] GO:0014053[negative regulation of gamma-aminobutyric acid secretion] GO:0016740[transferase activity] GO:0021549[cerebellum development] GO:0030170[pyridoxal phosphate binding] GO:0031652[positive regulation of heat generation] GO:0032024[positive regulation of insulin secretion] GO:0032144[4-aminobutyrate transaminase complex] GO:0032145[succinate-semialdehyde dehydrogenase binding] GO:0033602[negative regulation of dopamine secretion] GO:0034386[4-aminobutyrate:2-oxoglutarate transaminase activity] GO:0035094[response to nicotine] GO:0035640[exploration behavior] GO:0042135[neurotransmitter catabolic process] GO:0042220[response to cocaine] GO:0042802[identical protein binding] GO:0043005[neuron projection] GO:0045471[response to ethanol] GO:0045776[negative regulation of blood pressure] GO:0045964[positive regulation of dopamine metabolic process] GO:0046872[metal ion binding] GO:0047298[(S)-3-amino-2-methylpropionate transaminase activity] GO:0048148[behavioral response to cocaine] GO:0051536[iron-sulfur cluster binding] GO:0070474[positive regulation of uterine smooth muscle contraction] GO:0090331[negative regulation of platelet aggregation] GO:0097151[positive regulation of inhibitory postsynaptic potential] GO:1902722[positive regulation of prolactin secretion] GO:1904450[positive regulation of aspartate secretion]
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs 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)
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs 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)
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 Protein evidence (Ezkurdia et al 2014)
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 Protein evidence (Ezkurdia et al 2014)
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 Protein evidence (Ezkurdia et al 2014)
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 amino acid metabolism Protein evidence (Ezkurdia et al 2014)
Metabolic proteins DeepTMHMM 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 Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 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 Congenital disorders of metabolism Congenital disorders of amino acid metabolism Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
