Property Summary

NCBI Gene PubMed Count 34
PubMed Score 94.69
PubTator Score 366.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Gaba-Transaminase Deficiency 1
Disease Target Count
GABA transaminase deficiency 1

Expression

  Differential Expression (32)

Disease log2 FC p
nephrosclerosis -1.207 2.3e-02
malignant mesothelioma -1.100 7.1e-05
astrocytic glioma 1.500 9.0e-03
oligodendroglioma 2.200 3.1e-04
psoriasis -1.800 1.7e-03
osteosarcoma -2.955 1.1e-03
group 4 medulloblastoma -3.600 6.4e-11
cystic fibrosis -1.380 1.0e-03
atypical teratoid / rhabdoid tumor -2.100 1.4e-03
glioblastoma -1.900 2.7e-02
medulloblastoma, large-cell -5.800 2.8e-07
primitive neuroectodermal tumor -1.100 4.0e-02
pancreatic ductal adenocarcinoma liver m... -2.508 2.2e-03
intraductal papillary-mucinous adenoma (... -1.700 2.2e-04
intraductal papillary-mucinous carcinoma... -2.700 3.7e-03
intraductal papillary-mucinous neoplasm ... -2.700 5.0e-04
colon cancer -2.200 2.7e-02
lung cancer -1.700 6.8e-05
pancreatic cancer -2.000 2.6e-04
breast carcinoma 1.500 8.3e-05
fibroadenoma 1.100 2.3e-04
interstitial cystitis -1.800 4.1e-04
pediatric high grade glioma -1.600 9.1e-03
non primary Sjogren syndrome sicca 1.100 3.4e-02
subependymal giant cell astrocytoma -1.329 1.1e-02
nasopharyngeal carcinoma -1.300 4.1e-03
lung carcinoma 3.700 1.6e-55
Pick disease -1.200 4.9e-05
ulcerative colitis -2.100 1.2e-05
ovarian cancer -1.500 2.5e-02
Breast cancer -1.100 1.7e-04
chronic rhinosinusitis -1.445 9.6e-03

 GWAS Trait (1)

Gene RIF (16)

PMID Text
25771305 This study utilized ER+ IBC to identify a metagene including ABAT and STC2 as predictive biomarkers for endocrine therapy resistance.
25485164 A-to-G transition at nucleotide 754 of the human ABAT gene identified in lymphoblast cDNA (c.754A>G) results in substitution of an invariant arginine at amino acid 220 by lysine (p.Arg220Lys). This point mutation results in destabilization of the binding of pyridoxal-5'-phosphate to GABA-transaminase (required for transamination of GABA to succinic semialdehyde) and thus results in GABA-transaminase deficiency.
22225676 Findings point to a possible role of ABAT gene-regulated GABA catabolism for an altered processing of somatosensory stimuli as a potential vulnerability marker for affective disorders.
21552517 direct involvement of ABAT in pathways affecting lower esophageal sphincter (LES) control in gastro esophageal reflux disease
20877624 Observational study of gene-disease association. (HuGE Navigator)
20677014 Observational study of gene-disease association. (HuGE Navigator)
20659789 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20052547 excessive prenatal GABA exposure in the central nervous system (CNS) is responsible for the clinical manifestations of GABA transaminase deficiency [case report]
19598235 Observational study of gene-disease association. (HuGE Navigator)
18334916 Observational study of gene-disease association. (HuGE Navigator)
15830322 Analysis of the autistic disorder susceptibility locus suggests an association on chromosome 16p between GRIN2A and ABAT.
15650327 lysine 357 is essential for catalytic function of brain GABA transaminase, and is involved in binding PLP at the active site
15642443 Observational study of gene-disease association. (HuGE Navigator)
15528998 results suggest that the Cys321 residue is essential for the catalytic function of GABAT, and that it is involved in the formation of a disulfide link between two monomers of human brain GABAT
12694932 Marked differences in platelet uptake of GABA and activity of catabolic enzyme GABA-T between patients with generalized and localization-related epileptic syndromes. May indicate an impairment in function of brain GABAergic systems.

AA Sequence

MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQNAEA      1 - 70
VHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFV     71 - 140
EKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSI    141 - 210
LSFMGAFHGRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKY    211 - 280
RKKKKTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPA    281 - 350
DVMTFSKKMMTGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL    351 - 420
DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLN    421 - 490
IFSDILADFK                                                                491 - 500
//

Text Mined References (36)

PMID Year Title
25771305 2015 Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease.
25485164 2014 Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24489884 2014 Genome-wide association study of proneness to anger.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22225676 2013 Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders.
21552517 2011 4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20677014 2010 An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
20659789 2010 Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
19598235 2009 Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
18334916 2008 Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15830322 2005 Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.
15650327 2004 Site-directed mutagenesis of human brain GABA transaminase: lysine-357 is involved in cofactor binding at the active site.
15642443 2005 An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.
15528998 2004 Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12694932 2003 Uptake of GABA and activity of GABA-transaminase in platelets from epileptic patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11918424 2001 GABA-transaminase, the liver and infantile autism.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11181995 2001 The sequence of the human genome.
10951220 2000 Human brain GABA transaminase tissue distribution and molecular expression.
10407778 1999 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
7851425 1995 Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase.
7721088 1995 Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase.
7305280 1981 The biochemical genetics of human gamma-aminobutyric acid transaminase.
6470007 1984 Interactions between 4-aminobutyrate aminotransferase and succinic semialdehyde dehydrogenase, two mitochondrial enzymes.
6148708 1984 Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.