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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABAT Gene

protein-coding   GIFtS: 65
GCID: GC16P008768

4-Aminobutyrate Aminotransferase

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 homocarnosinosis, and gaba aminotransferase deficiency, and among its related super-pathways are 4-aminobutyrate degradation I and Valine, leucine and isoleucine degradation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P80404

  • ABAT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABAT Protein Expression
    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
    Human Recombinant Protein Products for ABAT: 
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    Cloud-Clone Corp. Proteins for ABAT 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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--

    ABAT for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    ABAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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
         
    ABAT for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABAT 
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    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
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABAT About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    14-aminobutyrate degradation I
    4-aminobutyrate degradation I0.50
    glutamate degradation III (via 4-aminobutyrate)0.50
    Degradation of GABA0.50
    beta-alanine degradation I0.50
    2Branched-chain amino acid catabolism
    valine degradation I0.53
    Propanoate metabolism0.31
    Valine, leucine and isoleucine degradation0.39
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    4GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation0.53
    Neurotransmitter Release Cycle0.53
    5Beta-alanine metabolism
    Beta-alanine metabolism0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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


    5        Reactome Pathways for ABAT
        Degradation of GABA
    Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle
    Neuronal System

    1 PharmGKB Pathway for ABAT
        Valproic Acid Pathway, Pharmacodynamics

    5/7         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


    ABAT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABAT

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

    5/46 Interacting proteins for ABAT (P804041, 3 ENSP000002682514) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    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
    PRPF8Q6P2Q93, ENSP000003043504I2D: score=1 STRING: ENSP00000304350
    PFDN5Q994713, ENSP000003341884I2D: score=1 STRING: ENSP00000334188
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (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--

    ABAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABAT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for ABAT

    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]

    10/15 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

    10/45 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)

    Search CenterWatch for drugs/clinical trials and news about ABAT / GABT

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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
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    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 

    24/270 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

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABAT expression in normal human tissues (normalized intensities)      ABAT embryonic expression: see
    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 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             postcentral gyrus   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             S-shaped Body
             kidney ; cells in tubules   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See ABAT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABAT

    SOURCE GeneReport for Unigene cluster: Hs.336768

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ABAT: 
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              GABA & Glutamate in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABAT gene from 8/22 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_414940.3  XP_414940.2 
    lizard
    (Anolis carolinensis)
    Reptilia ABAT6
    Uncharacterized protein
    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_168829.21  NP_730476.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gta-11 Protein GTA-1 51.76(n)
    47.8(a)
      177897  NM_069461.2  NP_501862.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UGA1(YGR019W)4
    UGA11
    Gamma-aminobutyrate (GABA) transaminase (4-aminobutyrate more4
    Uga1p1
    51.51(n)1
    44.34(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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3558 SNPs in ABAT are shown (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) 10/16 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/27 diseases for ABAT (see all 27):    About MalaCards
    homocarnosinosis    gaba aminotransferase deficiency    succinic semialdehyde dehydrogenase deficiency    early myoclonic encephalopathy
    lennox-gastaut syndrome    hypotonia    stiff-person syndrome    nicotine addiction
    paranoid schizophrenia    panic disorder    status epilepticus    tardive dyskinesia
    schizophrenia    neurologic diseases    temporal lobe epilepsy    narcolepsy
    ischemia    lateral sclerosis    amyotrophic lateral sclerosis    alcoholism

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

    ABAT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/19 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)
    About This Section

    PubMed articles for ABAT gene, integrated from 9 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. (1995)
    2. 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PubMed id 10407778)1, 2, 9 Medina-Kauwe L.K.... Gibson K.M. (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. (2004)
    4. Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. (PubMed id 7851425)1, 2, 9 de Biase D.... Bossa F. (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. (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. (2005)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    8. Common variants conferring risk of schizophrenia: a p athway analysis of GWAS data. (PubMed id 20659789)1, 4 Jia P....Zhao Z. (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. (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. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 18 HGNC: 23 AceView: ABAT Ensembl:ENSG00000183044 euGenes: HUgn18
    ECgene: ABAT Kegg: 18 H-InvDB: ABAT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABAT
    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.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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