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Aliases & Descriptions for ABAT
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 2.6.1.19,EC 2.6.1.22 3 FLJ17813 2 G 5 GABA-AT 2 , 3 GABA-T 3 GABAT 1 , 2 , 3 L-AIBAT 3 NPD009 2
Descriptions (S)-3-amino-2-methylpropionate transaminase 3 4-aminobutyrate aminotransferase 2 GABA aminotransferase 2 , 3 GABA transaminase 3 GABA transferase 2 Gamma-amino-N-butyrate transaminase 2 , 3
Search outside databases for aliases for ABAT genePrevious GC identifers: GC16P008572 GC16P008868 GC16P008735
Summaries for ABAT (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABAT : 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid(GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, intosuccinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed topyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA isestimated to be present in nearly one-third of human synapses. ABAT in liver and brain iscontrolled 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 transcriptvariants encoding the same protein isoform have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: GABT_HUMAN, P80404 Function : Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinatesemialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerateand beta-alanine
Genomic Location for ABAT
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ABAT gene Entrez Gene cytogenetic band: 16p13.2 Ensembl cytogenetic band: 16p13.2 HGNC cytogenetic band: 16p13.2 ABAT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16P008675:
(about GC identifiers )
Start:
8,675,928 bp from pter
End:
8,785,933 bp from pter
Size:
110,006 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000016.8 NT_010393.15 Proteins for ABAT
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: GABT_HUMAN, P80404 (See
protein sequence )Recommended Name: 4-aminobutyrate aminotransferase, mitochondrial precursor Size : 500 amino acids; 56439 Da
Cofactor : Pyridoxal phosphate
Subunit : Homodimer (By similarity)
Subcellular location : Mitochondrion matrix
Secondary accessions : A8K386 Q16260 Q8N5W2 Q96BG2 Q99800
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_000654.2 NP_001120920.1 NP_065737.2 ENSEMBL proteins: ENSP00000268251 ENSP00000379845 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): ABAT 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ABAT: Assays for ABAT:
Protein
Domains/ Families for ABAT(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P80404 ProtoNet protein and cluster: P80404
1 Blocks protein family : IPB005814 Aminotransferase class-III UniProtKB/Swiss-Prot: GABT_HUMAN, P80404 Similarity : Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family
Gene Function for ABAT
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000663 Applied Biosystems Silencer ® siRNAs for ABAT Sigma-Aldrich siRNA and siRNA Panels for ABAT Sigma-Aldrich shRNA for ABAT Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000663                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000663                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000663  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000663 UniProtKB/Swiss-Prot: GABT_HUMAN, P80404 Function : Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinatesemialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerateand beta-alanine Catalytic activity : 4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamateCatalytic activity : (S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate +L-glutamate Enzyme Number (IUBMB): EC 2.6.1.19,EC
5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
):
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Pathways & Interactions for ABAT
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for ABAT (Your Favorite Gene powered by Ingenuity) (see all 7
) 5/23 Interacting proteins for ABAT (P80404 1 ENSP00000268251 3 ) via UniProtKB, MINT, and/or STRING (see all 23
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for ABAT (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for ABAT
Sigma-Aldrich Small Molecules for ABAT:Inhibitor
Compounds for ABAT available from Tocris Bioscience Compound Action
CAS
number Vigabatrin GABA-T inhibitor [60643-86-9] 3-Methyl-GABA Activator of GABA amino-transferase [71424-95-8]
About this table 10/16 Novoseek chemical compound relationships for ABAT gene (see all 16
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
succinic semialdehyde
92.82
34
18846220 (3), 8412016 (2), 14984687 (1), 12891648 (1) (see all 20 )
aba-t
92.71
11
15830322 (4), 19294962 (2), 18334916 (1), 15642443 (1) (see all 6 )
p-hydroxybenzaldehyde
63.47
7
16290145 (2), 16690313 (1), 19138517 (1)
beta-alanine
52.02
3
16435204 (1), 12238932 (1)
nipecotic acid
50.34
1
8101728 (1)
ornithine
41.01
4
16096275 (1), 7592550 (1), 17504214 (1), 18398873 (1)
2-mercaptoethanol
28.33
2
15528998 (1), 14640537 (1)
carboxylate
10.13
2
10579835 (1)
taurine
5.80
3
14567543 (3)
lysine
0.00
1
1901730 (1)
About this table
Transcripts for ABAT(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_000663 Sigma-Aldrich siRNA and siRNA Panels for ABAT Sigma-Aldrich shRNA for ABAT Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000663 NM_001127448 NM_020686
REFSEQ mRNAs for ABAT gene (3 alternative transcripts): NM_000663.4 NM_001127448.1 NM_020686.5
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000663 NM_001127448 NM_020686
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_000663                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_000663                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000663  
Additional cDNA sequence: AF237813.1 AK290501.1 AK293983.1 AK310771.1 AL137454.1 BC008990.1 BC013965.2 BC015628.2 BC031413.1 BC075851.1 BX537362.1 CR593324.1 CR599622.1 L32961.1 S75578.1 U80226.1
13 DOTS entries : DT.454527 DT.101983594 DT.99933573 DT.100814053 DT.100723837 DT.100777194 DT.99981159 DT.100814054 DT.120686051 DT.452778 DT.91773661 DT.100008010 DT.120686077
24/270 AceView cDNA sequences (see all 270
):BG060102 CR599622 CB250491 AV651195 AV727134 AI445779 AW572541 AI284203 AA319794 AW196473 AI248676 BM876183 T33495 AV652821 AI076281 AI580324 AA331613 AW024973 BF196112 NM_000663 BC015628 NM_020686 AI282925 BG056506
highest scoring ESTs for ABAT :L32961 AA203138 AA233454 AA233527 AA319352 AA319794 AA332265 AA332691 AA334268 AA337336
Unigene Cluster for ABAT: 4-aminobutyrate aminotransferase Hs.336768 [show with all ESTs ] Unigene Representative Sequence: NM_000663 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ABAT (see all 8
) ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 SP1 :     -   -   -   -   -   -   -     -               -                   SP2 :                     -                                 SP3 :     -   -   -   -   -   -   -                                     SP4 :       -   -                                             SP5 :         -                                            
About this scheme ECgene alternative splicing isoforms for ABAT 2 Ensembl transcripts including schematic representations : ENST00000268251
ENST00000396600
Expression for ABAT
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ABAT expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ABAT 1 / 2 / 3
9 probe-sets matching ABAT gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.336768 Expression variation in blood from EXPOLDB for ABAT
UniProtKB/Swiss-Prot: GABT_HUMAN, P80404 Tissue specificity : Liver > pancreas > brain > kidney > heart > placenta
Orthologs for ABAT
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ABAT gene from 5/19 species (see all 19
)
About this table Species with no ortholog for ABAT ENSEMBL Gene Tree for ABAT Paralogs for ABAT (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABAT gene OAT 2
SNPs/Variants for ABAT (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABAT (up to first 250kb)
Disorders & Mutations for ABAT
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 137150 UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
Defects in ABAT are a cause of GABA-AT deficiency [MIM:137150]. The phenotype of thisdeficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractoryseizures, and EEG abnormalities
10/19 Novoseek disease relationships for ABAT gene (see all 19
)
About this table Human Gene Mutation Database : ABAT Genetic Association Database: ABAT Human Genome Epidemiology Navigator: ABAT (2 documents)
Medical News for ABAT (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABAT (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/145 PubMed articles for ABAT gene (see all 145
): Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. (PubMed id 7721088) 2, 3, 4 Osei Y.D. and Churchich J.E. (1995) 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PubMed id 10407778) 1, 3, 4 Medina-Kauwe L.K.... Gibson K.M. (1999) Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. (PubMed id 7851425) 1, 3, 4 de Biase D.... Bossa F. (1995) An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PubMed id 15642443) 1, 3, 6 Zhang B....Shen Y. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking. (PubMed id 15528998) 1, 3 Yoon C.S....Choi S.Y. (2004) Uptake of GABA and activity of GABA-transaminase in platelets from epileptic patients. (PubMed id 12694932) 1, 3 Rainesalo S....Keranen T. (2003) Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. (PubMed id 15830322) 1, 3 Barnby G....Monaco A.P. (2005) Site-directed mutagenesis of human brain GABA transaminase: lysine-357 is involved in cofactor binding at the active site. (PubMed id 15650327) 1, 3 Kim D.W....Choi S.Y. (2004)
Search for ABAT
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Genome Databases showing ABAT
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABAT
(According to HUGE )
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--
Specialized Databases showing ABAT (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=ABAT SHMPD http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABAT+%40+GABAT
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-- Services for ABAT (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ABAT:
Recombinant Proteins (ABAT ) Antibodies (ABAT )
Tocris compounds for ABAT
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Location for ABAT
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009