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ABAT Gene

protein-coding   GIFtS: 65
GCID: GC16P008768

4-Aminobutyrate Aminotransferase

  See ABAT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
4-Aminobutyrate Aminotransferase1 2     4-Aminobutyrate Aminotransferase, Mitochondrial2
4-Aminobutyrate Transaminase1 2     NPD0092
Gamma-Amino-N-Butyrate Transaminase2 3     GABA Transferase2
(S)-3-Amino-2-Methylpropionate Transaminase2 3     EC 2.6.1.193
GABA-AT2 3     EC 2.6.1.223
GABAT2 3     GABA-T3
GABA Aminotransferase2 3     L-AIBAT3
GABA Transaminase2 3     G5

External Ids:    HGNC: 231   Entrez Gene: 182   Ensembl: ENSG000001830447   OMIM: 1371505   UniProtKB: P804043   

Export aliases for ABAT gene to outside databases

Previous GC identifers: GC16P008572 GC16P008868 GC16P008735 GC16P008675


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABAT Gene:
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)

GeneCards Summary for ABAT Gene:
ABAT (4-aminobutyrate aminotransferase) is a protein-coding gene. Diseases associated with ABAT include gaba aminotransferase deficiency, and asphyxia neonatorum. GO annotations related to this gene include protein homodimerization activity and 4-aminobutyrate transaminase activity.

UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
Function: Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde
and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine

summary for ABAT Gene:
4-aminobutyrate transaminase (ABAT, also known as GABA transaminase) catalyzes the conversion of GABA into
succinic semialdehyde.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABAT gene promoter:
         RelA   NF-kappaB   Tal-1beta   E47   FAC1   TGIF   NF-kappaB1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABAT promoter sequence
   Search Chromatin IP Primers for ABAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
ABAT gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P008768:  view genomic region     (about GC identifiers)

Start:
8,768,422 bp from pter      End:
8,878,432 bp from pter
Size:
110,011 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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; disulfide-linked
Secondary accessions: A8K386 Q16260 Q8N5W2 Q96BG2 Q99800

Explore the universe of human proteins at neXtProt for ABAT: NX_P80404

Explore proteomics data for ABAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ABAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000654.2  NP_001120920.1  NP_065737.2  

    ENSEMBL proteins: 
     ENSP00000268251   ENSP00000456392   ENSP00000455184   ENSP00000456267   ENSP00000455198  
     ENSP00000454415   ENSP00000456330   ENSP00000411916   ENSP00000454963   ENSP00000455502  
     ENSP00000379845  
    Reactome Protein details: P80404

    ABAT Human Recombinant Protein Products:

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    Novus Biologicals ABAT Protein
    Novus Biologicals ABAT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABAT

     
    Search eBioscience for Proteins for ABAT 

     
    antibodies-online proteins for ABAT (8 products) 

     
    antibodies-online peptides for ABAT

    ABAT Antibody Products:

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    antibodies-online antibodies for ABAT (26 products) 

    ABAT Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ABAT
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    antibodies-online kits for ABAT (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR004631 4NH2But_aminotransferase_euk
     IPR005814 Aminotrans_3
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry P80404

    ProtoNet protein and cluster: P80404

    1 Blocks protein domain: IPB005814 Aminotransferase class-III

    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
    Similarity: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family


    Find genes that share domains with ABAT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GABT_HUMAN, P80404
    Function: Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde
    and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine
    Catalytic activity: 4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate
    Catalytic activity: (S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate

         Enzyme Numbers (IUBMB): EC 2.6.1.221 EC 2.6.1.191

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038674-aminobutyrate transaminase activity TAS--
    GO:0008483transaminase activity ----
    GO:0030170pyridoxal phosphate binding IDA15650327
    GO:0032145succinate-semialdehyde dehydrogenase binding ISS--
    GO:0042803protein homodimerization activity IPI15528998
         
    Find genes that share ontologies with ABAT           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ABAT

    miRNA
    Products:
        
    miRTarBase miRNAs that target ABAT:
    hsa-mir-335-5p (MIRT017324)

    Block miRNA regulation of human, mouse, rat ABAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABAT (see all 51):
    hsa-miR-3678-3p hsa-miR-549 hsa-miR-3607-3p hsa-miR-429 hsa-miR-3653 hsa-miR-374a hsa-miR-507 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidABAT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ABAT
    Predesigned siRNA for gene silencing in human, mouse, rat ABAT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ABAT

    Clone
    Products:
         
    OriGene clones in human, mouse for ABAT (see all 18)
    OriGene ORF clones in mouse, rat for ABAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ABAT (NM_001127448)
    Sino Biological Human cDNA Clone for ABAT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABAT

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ABAT
    Browse ESI BIO Cell Lines and PureStem Progenitors for ABAT 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABAT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GABT_HUMAN, P80404: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005759mitochondrial matrix TAS--
    GO:00321444-aminobutyrate transaminase complex IDA15528998
    GO:0043005neuron projection IEA--

    Find genes that share ontologies with ABAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABAT About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    beta-alanine degradation I0.00
    Propanoate metabolism0.31
    valine degradation I0.00
    2Valproic Acid Pathway, Pharmacodynamics
    Valproic Acid Pathway, Pharmacodynamics
    Degradation of GABA0.00
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    GABA synthesis, release, reuptake and degradation0.00
    5glutamate degradation III (via 4-aminobutyrate)
    glutamate degradation III (via 4-aminobutyrate)
    4-aminobutyrate degradation I0.00


    Find genes that share SuperPaths with ABAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ABAT
        Beta-alanine metabolism

    5 BioSystems Pathways for ABAT
        glutamate degradation III (via 4-aminobutyrate)
    Alanine and aspartate metabolism
    valine degradation I
    4-aminobutyrate degradation I
    beta-alanine degradation I


    1 Reactome Pathway for ABAT
        Degradation of GABA

    1 PharmGKB Pathway for ABAT
        Valproic Acid Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ABAT) (see all 7):
        Alanine, aspartate and glutamate metabolism
    Valine, leucine and isoleucine degradation
    beta-Alanine metabolism
    Propanoate metabolism
    Butanoate metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABAT: 
              Amino Acid Metabolism II in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ABAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ABAT (P804041, 3 ENSP000002682514) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081, 3, ENSP000003005744EBI-1753838,EBI-886 I2D: score=1 STRING: ENSP00000300574
    ALDH5A1P516493, ENSP000003146494I2D: score=2 STRING: ENSP00000314649
    ISCUQ9H1K13, ENSP000003106234I2D: score=1 STRING: ENSP00000310623
    SGPL1O954703, ENSP000003622984I2D: score=1 STRING: ENSP00000362298
    QRSL1Q9H0R63I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0007610behavior NAS11918424
    GO:0007620copulation IEA--

    Find genes that share ontologies with ABAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ABAT
      Browse compounds at ApexBio 

    Compounds for ABAT available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LY 78335Phenylethanolamine-N-methyltransferase inhibitor[39959-66-5]
    Cystamine dihydrochlorideTransglutaminase inhibitor; neuroprotective[56-17-7]
    BMS 303141ATP citrate lyase inhibitor; orally bioavailable[943962-47-8]
    LDN 27219Transglutaminase 2 (TG2) inhibitor; reversible[312946-37-5]
    TunicamycinAntibiotic; GlcNAc phosphotransferase inhibitor[11089-65-9]

    Selected HMDB Compounds for ABAT (see all 15)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    (S)-b-aminoisobutyric acidL-b-Aminoisobutyric acid (see all 30)4249-19-8--
    2-Methyl-3-oxopropanoic acid2-Methyl-3-oxopropanoate (see all 7)6236-08-4--
    Beta-Alanine2-Carboxyethylamine (see all 21)107-95-9--
    Beta-Alanyl-CoAbeta-Alanyl-CoA (see all 2)----
    FamotidineAmfamox (see all 83)76824-35-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    L-2,4-diaminobutyric acid(S)-2,4-diamino-Butanoic acid (see all 10)1758-80-1--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    Malonic acidPropanedioic acid (see all 18)141-82-2--

    9 DrugBank Compounds for ABAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phenelzine-- 51-71-8targetinhibitor11775064 1881457 17768678 7931216 1610412 8749840 19203467
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetinhibitor17531224 15723541 16096275 14534310 14567543 11752352
    Valproic Acid2-Propylpentanoic Acid (see all 8)99-66-1targetinhibitor6805473 2559361 17514356 17139284 11025174 17016423
    Vigabatringamma-Vinyl GABA (see all 7)60643-86-9targetinhibitor10206175 10214744 11752352 10195585 10530689 10503933
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--1983997 17139284 3299141 17016423 8979623
    (4e)-4-Aminohex-4-Enoic Acid-- --target--17139284 17016423 10592235
    4-Amino Hexanoic Acid-- --target--17139284 17016423 10592235
    Pyruvic acid2-Oxopropanoate (see all 8)127-17-3targetinhibitor16435204 17355287 11752352
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7targetinhibitor17504214 11752352

    Selected Novoseek inferred chemical compound relationships for ABAT gene (see all 45)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vigabatrin 95.7 131 2399411 (3), 15558944 (3), 14567543 (3), 9554704 (2) (see all 78)
    succinic semialdehyde 92.8 35 18846220 (3), 8412016 (2), 14984687 (1), 19576596 (1) (see all 21)
    aba-t 92.4 11 15830322 (4), 19294962 (2), 18334916 (1), 15642443 (1) (see all 6)
    gaba 90.5 697 11290386 (8), 17362888 (7), 16249254 (6), 10407778 (6) (see all 99)
    tiagabine 80.6 11 8941036 (1), 12861364 (1), 10849911 (1), 11780594 (1) (see all 9)
    pyridoxal 5-phosphate 74.5 14 11853435 (2), 8576911 (1), 1956876 (1), 17531224 (1) (see all 7)
    alpha-ketoglutarate 69 9 16249254 (1), 2075726 (1), 16290145 (1), 11238307 (1) (see all 6)
    gabapentin 67.6 3 11780594 (1), 16793827 (1)
    valproate 67.4 11 1477847 (2), 8449181 (2), 12694932 (1), 13129709 (1) (see all 6)
    gamma-hydroxybutyrate 64.2 3 18846220 (1), 19013439 (1)



    Find genes that share compounds with ABAT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABAT gene (3 alternative transcripts): 
    NM_000663.4  NM_001127448.1  NM_020686.5  

    Unigene Cluster for ABAT:

    4-aminobutyrate aminotransferase
    Hs.336768  [show with all ESTs]
    Unigene Representative Sequence: NM_000663
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268251(uc002czc.4 uc010bui.3) ENST00000564714 ENST00000563992
    ENST00000568847 ENST00000561870 ENST00000569695 ENST00000566590 ENST00000563215
    ENST00000565016 ENST00000567812 ENST00000425191 ENST00000569156 ENST00000562115
    ENST00000565671 ENST00000564453 ENST00000396600(uc002czd.4 uc010buh.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ABAT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ABAT (see all 51):
    hsa-miR-3678-3p hsa-miR-549 hsa-miR-3607-3p hsa-miR-429 hsa-miR-3653 hsa-miR-374a hsa-miR-507 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidABAT 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ABAT
    Predesigned siRNA for gene silencing in human, mouse, rat ABAT
    Clone
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    OriGene clones in human, mouse for ABAT (see all 18)
    OriGene ORF clones in mouse, rat for ABAT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ABAT (NM_001127448)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABAT
    Primer
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    OriGene qPCR primer pairs and template standards for ABAT
    OriGene qSTAR qPCR primer pairs in human, mouse for ABAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ABAT
      QuantiTect SYBR Green Assays in human, mouse, rat ABAT
      QuantiFast Probe-based Assays in human, mouse, rat ABAT

    Additional mRNA sequence: 

    AF237813.1 AK054834.1 AK290501.1 AK293983.1 AK310771.1 AL137454.1 BC008990.1 BC013965.2 
    BC015628.2 BC031413.1 BC075851.1 BX537362.1 L32961.1 S75578.1 U80226.1 

    14 DOTS entries:

    DT.454527  DT.101983594  DT.99933573  DT.40288495  DT.100814053  DT.100723837  DT.100777194  DT.452778 
    DT.99981159  DT.100814054  DT.120686051  DT.91773661  DT.100008010  DT.120686077 

    Selected AceView cDNA sequences (see all 270):

    AI248778 AW243244 AV700394 AI339660 H99509 AV727134 AA331613 AI955189 
    T16517 AI419288 AW090111 BM693169 NM_000663 CB250491 AI445779 AA319794 
    AW572541 BF061331 BF436102 BF196112 AA740719 AI401600 AI248676 BM711183 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ABAT (see all 8)    About this scheme

    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:                          -                                                                                                                                 


    ECgene alternative splicing isoforms for ABAT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ABAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABAT Expression
    About this image


    ABAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             S-shaped Body
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
    ABAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.336768

    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
    Tissue specificity: Liver > pancreas > brain > kidney > heart > placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ABAT: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABAT gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abat1 , 5 4-aminobutyrate aminotransferase1, 5 87.2(n)1
    91.2(a)1
      16 (4.06 cM)5
    2688601  NM_172961.31  NP_766549.21 
     85134295 
    chicken
    (Gallus gallus)
    Aves ABAT1 4-aminobutyrate aminotransferase 78(n)
    87(a)
      416642  XM_004945322.1  XP_004945379.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABAT6
    4-aminobutyrate aminotransferase
    89(a)
    1 ↔ 1
    GL343263.1(890096-908475)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684582 hypothetical protein MGC68458 75.11(n)    BC061933.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.53122 Danio rerio cDNA clone MGC55707 IMAGE3815930, complete more 75.02(n)    BC045433.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG74331 , 3 4-aminobutyrate aminotransferase3
    CG74331
    53(a)3
    60.69(n)1
    55.53(a)1
      76D83
    401881  NM_001170008.11  NP_001163479.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gta-11 gta-1 51.76(n)
    47.8(a)
      177897  NM_069461.3  NP_501862.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UGA1(YGR019W)4
    UGA11
    Gamma-aminobutyrate (GABA) transaminase (4-aminobutyrate more4
    UGA11
    51.35(n)1
    43.95(a)1
      7(525229-526644)4
    8529021, 4  NP_011533.31  NP_011533.14 


    ENSEMBL Gene Tree for ABAT (if available)
    TreeFam Gene Tree for ABAT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ABAT (see all 3558)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0088834
    GABA transaminase deficiency (GABATD)4--see VAR_0088832 R K mis40--------
    rs798164801,2
    --8662961(+) GTTTAC/TTGTTC 1 -- us2k10--------
    rs1393919481,2
    --8663014(+) ATTCAA/GGTTGT 1 -- us2k10--------
    rs1832378531,2
    C--8663041(+) TGATAA/CACAAA 1 -- us2k10--------
    rs16411041,2
    C,F--8663220(+) AATACA/GTGAAA 1 -- us2k14Minor allele frequency- G:0.11MN NA 308
    rs283984241,2
    C--8663285(+) TTGGTA/GGGTAA 1 -- us2k14Minor allele frequency- G:0.05NA WA EA 360
    rs772949661,2
    C--8663303(+) CCCTCA/TTTTGG 1 -- us2k10--------
    rs287582161,2
    F--8663310(+) TTGGTT/GTTAAC 1 -- us2k1 tfbs31Minor allele frequency- G:0.01WA 118
    rs1439999881,2
    --8663419(+) GGTTTC/TAAGAA 1 -- us2k10--------
    rs1885658741,2
    --8663461(+) CAAGTC/TCCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ABAT (8768422 - 8878432 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABAT (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660203CNV Deletion23128226
    esv2385301CNV Deletion18987734
    nsv523677CNV Loss19592680
    nsv522342CNV Loss19592680
    nsv457394CNV Gain19166990
    nsv905307CNV Gain21882294
    dgv341n27CNV Gain19166990
    nsv457398CNV Gain19166990
    nsv457393CNV Gain19166990
    dgv2599n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): ABAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABAT
    DNA2.0 Custom Variant and Variant Library Synthesis for ABAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 137150   
    OMIM disorders: 613163  
    UniProtKB/Swiss-Prot: GABT_HUMAN, P80404
  • GABA transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor
    retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 11 diseases for ABAT:    
    About MalaCards
    gaba aminotransferase deficiency    asphyxia neonatorum    homocarnosinosis    early myoclonic encephalopathy
    cap myopathy 1    stiff-person syndrome    succinic semialdehyde dehydrogenase deficiency    cap myopathy
    lennox-gastaut syndrome    hypotonia    schizophrenia

    3 diseases from the University of Copenhagen DISEASES database for ABAT:
    Succinic semialdehyde dehydrogenase deficiency     Lennox-Gastaut syndrome     Asphyxia neonatorum

    Find genes that share disorders with ABAT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ABAT gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    homocarnosinosis 87.4 2 15021235 (2)
    visual field constriction 78.4 2 16793827 (1), 16675198 (1)
    epilepsy 70.4 22 19591913 (2), 1396437 (1), 14984687 (1), 12358316 (1) (see all 20)
    complex partial seizures 67 2 7750512 (1)
    hyperglycinemia nonketotic 58.4 1 17690069 (1)
    deficiency diseases 48.3 4 9746906 (3)
    cocaine addiction 38.4 2 10503933 (1)
    neurological disorders 35.7 5 8979623 (1), 17128990 (1), 16314106 (1), 15650327 (1) (see all 5)
    epilepsy generalized 30.9 1 1313057 (1)
    autistic 29.5 4 12160695 (3), 11918424 (1)

    Genetic Association Database (GAD): ABAT
    Human Genome Epidemiology (HuGE) Navigator: ABAT (7 documents)

    Export disorders for ABAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABAT gene, integrated from 10 sources (see all 233):
    (articles sorted by number of sources associating them with ABAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. (PubMed id 7721088)1, 2, 3 Osei Y.D. and Churchich J.E. (Gene 1995)
    2. 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PubMed id 10407778)1, 2, 9 Medina-Kauwe L.K.... Gibson K.M. (J. Inherit. Metab. Dis. 1999)
    3. Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking. (PubMed id 15528998)1, 2, 9 Yoon C.S.... Choi S.Y. (Mol. Cells 2004)
    4. Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. (PubMed id 7851425)1, 2, 9 de Biase D.... Bossa F. (Eur. J. Biochem. 1995)
    5. 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. (PubMed id 18334916)1, 4, 9 Inada T....Arinami T. (Pharmacogenet. Genomics 2008)
    6. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PubMed id 15642443)1, 4, 9 Zhang B....Shen Y. (Eur. Psychiatry 2005)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (Schizophr. Res. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 18 HGNC: 23 AceView: ABAT Ensembl:ENSG00000183044 euGenes: HUgn18
    ECgene: ABAT Kegg: 18 H-InvDB: ABAT

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ABAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABAT[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABAT+%40+GABAT

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABAT gene:
    Search GeneIP for patents involving ABAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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