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ABAT (4-aminobutyrate aminotransferase)

Identity

Alias_symbol (synonym)GABAT
Other aliasGABA-AT
NPD009
HGNC (Hugo) ABAT
LocusID (NCBI) 18
Atlas_Id 60026
Location 16p13.2  [Link to chromosome band 16p13]
Location_base_pair Starts at 8712969 and ends at 8784575 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABAT (16p13.2) / C16orf62 (16p12.3)ABAT (16p13.2) / KIAA0430 (16p13.11)ABAT (16p13.2) / PSMD12 (17q24.2)
AKNAD1 (1p13.3) / ABAT (16p13.2)EDIL3 (5q14.3) / ABAT (16p13.2)LDLR (19p13.2) / ABAT (16p13.2)
PMM2 (16p13.2) / ABAT (16p13.2)RUSC2 (9p13.3) / ABAT (16p13.2)ABAT C16orf62
ABAT KIAA0430

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ABAT   23
Cards
Entrez_Gene (NCBI)ABAT  18  4-aminobutyrate aminotransferase
AliasesGABA-AT; GABAT; NPD009
GeneCards (Weizmann)ABAT
Ensembl hg19 (Hinxton)ENSG00000183044 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183044 [Gene_View]  chr16:8712969-8784575 [Contig_View]  ABAT [Vega]
ICGC DataPortalENSG00000183044
TCGA cBioPortalABAT
AceView (NCBI)ABAT
Genatlas (Paris)ABAT
WikiGenes18
SOURCE (Princeton)ABAT
Genetics Home Reference (NIH)ABAT
Genomic and cartography
GoldenPath hg38 (UCSC)ABAT  -     chr16:8712969-8784575 +  16p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABAT  -     16p13.2   [Description]    (hg19-Feb_2009)
EnsemblABAT - 16p13.2 [CytoView hg19]  ABAT - 16p13.2 [CytoView hg38]
Mapping of homologs : NCBIABAT [Mapview hg19]  ABAT [Mapview hg38]
OMIM137150   613163   
Gene and transcription
Genbank (Entrez)AA806200 AF237813 AK054834 AK096146 AK290501
RefSeq transcript (Entrez)NM_000663 NM_001127448 NM_020686
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABAT
Cluster EST : UnigeneHs.336768 [ NCBI ]
CGAP (NCI)Hs.336768
Alternative Splicing GalleryENSG00000183044
Gene ExpressionABAT [ NCBI-GEO ]   ABAT [ EBI - ARRAY_EXPRESS ]   ABAT [ SEEK ]   ABAT [ MEM ]
Gene Expression Viewer (FireBrowse)ABAT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)18
GTEX Portal (Tissue expression)ABAT
Protein : pattern, domain, 3D structure
UniProt/SwissProtP80404   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP80404  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP80404
Splice isoforms : SwissVarP80404
Catalytic activity : Enzyme2.6.1.19 [ Enzyme-Expasy ]   2.6.1.192.6.1.19 [ IntEnz-EBI ]   2.6.1.19 [ BRENDA ]   2.6.1.19 [ KEGG ]   
PhosPhoSitePlusP80404
Domaine pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_3 (PS00600)   
Domains : Interpro (EBI)4NH2But_aminotransferase_euk    Aminotrans_3    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2   
Domain families : Pfam (Sanger)Aminotran_3 (PF00202)   
Domain families : Pfam (NCBI)pfam00202   
Conserved Domain (NCBI)ABAT
DMDM Disease mutations18
Blocks (Seattle)ABAT
SuperfamilyP80404
Human Protein AtlasENSG00000183044
Peptide AtlasP80404
HPRD00661
IPIIPI00009532   IPI00436714   IPI00978619   IPI00847417   
Protein Interaction databases
DIP (DOE-UCLA)P80404
IntAct (EBI)P80404
FunCoupENSG00000183044
BioGRIDABAT
STRING (EMBL)ABAT
ZODIACABAT
Ontologies - Pathways
QuickGOP80404
Ontology : AmiGOresponse to hypoxia  4-aminobutyrate transaminase activity  4-aminobutyrate transaminase activity  mitochondrion  mitochondrion  mitochondrial matrix  aging  copulation  locomotory behavior  gamma-aminobutyric acid biosynthetic process  gamma-aminobutyric acid catabolic process  response to iron ion  negative regulation of gamma-aminobutyric acid secretion  cerebellum development  pyridoxal phosphate binding  positive regulation of heat generation  positive regulation of insulin secretion  4-aminobutyrate transaminase complex  succinate-semialdehyde dehydrogenase binding  negative regulation of dopamine secretion  response to nicotine  exploration behavior  neurotransmitter catabolic process  response to drug  protein homodimerization activity  neuron projection  response to ethanol  negative regulation of blood pressure  positive regulation of dopamine metabolic process  metal ion binding  (S)-3-amino-2-methylpropionate transaminase activity  behavioral response to cocaine  iron-sulfur cluster binding  extracellular exosome  positive regulation of uterine smooth muscle contraction  negative regulation of platelet aggregation  positive regulation of inhibitory postsynaptic potential  positive regulation of prolactin secretion  positive regulation of aspartate secretion  
Ontology : EGO-EBIresponse to hypoxia  4-aminobutyrate transaminase activity  4-aminobutyrate transaminase activity  mitochondrion  mitochondrion  mitochondrial matrix  aging  copulation  locomotory behavior  gamma-aminobutyric acid biosynthetic process  gamma-aminobutyric acid catabolic process  response to iron ion  negative regulation of gamma-aminobutyric acid secretion  cerebellum development  pyridoxal phosphate binding  positive regulation of heat generation  positive regulation of insulin secretion  4-aminobutyrate transaminase complex  succinate-semialdehyde dehydrogenase binding  negative regulation of dopamine secretion  response to nicotine  exploration behavior  neurotransmitter catabolic process  response to drug  protein homodimerization activity  neuron projection  response to ethanol  negative regulation of blood pressure  positive regulation of dopamine metabolic process  metal ion binding  (S)-3-amino-2-methylpropionate transaminase activity  behavioral response to cocaine  iron-sulfur cluster binding  extracellular exosome  positive regulation of uterine smooth muscle contraction  negative regulation of platelet aggregation  positive regulation of inhibitory postsynaptic potential  positive regulation of prolactin secretion  positive regulation of aspartate secretion  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Valine, leucine and isoleucine degradation    beta-Alanine metabolism    Propanoate metabolism    Butanoate metabolism    GABAergic synapse   
NDEx NetworkABAT
Atlas of Cancer Signalling NetworkABAT
Wikipedia pathwaysABAT
Orthology - Evolution
OrthoDB18
GeneTree (enSembl)ENSG00000183044
Phylogenetic Trees/Animal Genes : TreeFamABAT
HOVERGENP80404
HOGENOMP80404
Homologs : HomoloGeneABAT
Homology/Alignments : Family Browser (UCSC)ABAT
Gene fusions - Rearrangements
Fusion: TCGAABAT C16orf62
Fusion: TCGAABAT KIAA0430
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABAT
dbVarABAT
ClinVarABAT
1000_GenomesABAT 
Exome Variant ServerABAT
ExAC (Exome Aggregation Consortium)ABAT (select the gene name)
Genetic variants : HAPMAP18
Genomic Variants (DGV)ABAT [DGVbeta]
DECIPHERABAT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABAT 
Mutations
ICGC Data PortalABAT 
TCGA Data PortalABAT 
Broad Tumor PortalABAT
OASIS PortalABAT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABAT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABAT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABAT
DgiDB (Drug Gene Interaction Database)ABAT
DoCM (Curated mutations)ABAT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABAT (select a term)
intoGenABAT
Cancer3DABAT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137150    613163   
Orphanet3577   
MedgenABAT
Genetic Testing Registry ABAT
NextProtP80404 [Medical]
TSGene18
GENETestsABAT
Target ValidationABAT
Huge Navigator ABAT [HugePedia]
snp3D : Map Gene to Disease18
BioCentury BCIQABAT
ClinGenABAT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD18
Chemical/Pharm GKB GenePA24372
Clinical trialABAT
Miscellaneous
canSAR (ICR)ABAT (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABAT
EVEXABAT
GoPubMedABAT
iHOPABAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:00:37 CEST 2017

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