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ABAT (4-aminobutyrate aminotransferase)

Identity

Alias (NCBI)GABA-AT
GABAT
NPD009
HGNC (Hugo) ABAT
HGNC Alias symbGABAT
HGNC Alias name4-aminobutyrate transaminase
LocusID (NCBI) 18
Atlas_Id 60026
Location 16p13.2  [Link to chromosome band 16p13]
Location_base_pair Starts at 8674587 and ends at 8784575 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;16)(p13;p13) RUSC2/ABAT

External links

Nomenclature
HGNC (Hugo)ABAT   23
Cards
Entrez_Gene (NCBI)ABAT    4-aminobutyrate aminotransferase
AliasesGABA-AT; GABAT; NPD009
GeneCards (Weizmann)ABAT
Ensembl hg19 (Hinxton)ENSG00000183044 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183044 [Gene_View]  ENSG00000183044 [Sequence]  chr16:8674587-8784575 [Contig_View]  ABAT [Vega]
ICGC DataPortalENSG00000183044
TCGA cBioPortalABAT
AceView (NCBI)ABAT
Genatlas (Paris)ABAT
SOURCE (Princeton)ABAT
Genetics Home Reference (NIH)ABAT
Genomic and cartography
GoldenPath hg38 (UCSC)ABAT  -     chr16:8674587-8784575 +  16p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABAT  -     16p13.2   [Description]    (hg19-Feb_2009)
GoldenPathABAT - 16p13.2 [CytoView hg19]  ABAT - 16p13.2 [CytoView hg38]
ImmunoBaseENSG00000183044
genome Data Viewer NCBIABAT [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000183044
Gene ExpressionABAT [ NCBI-GEO ]   ABAT [ EBI - ARRAY_EXPRESS ]   ABAT [ SEEK ]   ABAT [ MEM ]
Gene Expression Viewer (FireBrowse)ABAT [ Firebrowse - Broad ]
GenevisibleExpression of ABAT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)18
GTEX Portal (Tissue expression)ABAT
Human Protein AtlasENSG00000183044-ABAT [pathology]   [cell]   [tissue]
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 ]   [ MEROPS ]
PhosPhoSitePlusP80404
Domaine pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_3 (PS00600)   
Domains : Interpro (EBI)4NH2But_aminotransferase_euk    Aminotrans_3    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_dom1    PyrdxlP-dep_Trfase_major   
Domain families : Pfam (Sanger)Aminotran_3 (PF00202)   
Domain families : Pfam (NCBI)pfam00202   
Conserved Domain (NCBI)ABAT
Blocks (Seattle)ABAT
SuperfamilyP80404
Human Protein Atlas [tissue]ENSG00000183044-ABAT [tissue]
Peptide AtlasP80404
HPRD00661
IPIIPI00009532   IPI00436714   IPI00978619   IPI00847417   
Protein Interaction databases
DIP (DOE-UCLA)P80404
IntAct (EBI)P80404
BioGRIDABAT
STRING (EMBL)ABAT
ZODIACABAT
Ontologies - Pathways
QuickGOP80404
Ontology : AmiGOresponse to hypoxia  4-aminobutyrate transaminase activity  4-aminobutyrate transaminase activity  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  aging  copulation  locomotory behavior  gamma-aminobutyric acid biosynthetic process  gamma-aminobutyric acid catabolic process  gamma-aminobutyric acid catabolic process  response to iron ion  negative regulation of gamma-aminobutyric acid secretion  cerebellum development  pyridoxal phosphate binding  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  4-aminobutyrate:2-oxoglutarate transaminase activity  response to nicotine  exploration behavior  neurotransmitter catabolic process  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  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  mitochondrion  mitochondrial matrix  aging  copulation  locomotory behavior  gamma-aminobutyric acid biosynthetic process  gamma-aminobutyric acid catabolic process  gamma-aminobutyric acid catabolic process  response to iron ion  negative regulation of gamma-aminobutyric acid secretion  cerebellum development  pyridoxal phosphate binding  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  4-aminobutyrate:2-oxoglutarate transaminase activity  response to nicotine  exploration behavior  neurotransmitter catabolic process  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  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 : KEGGButanoate metabolism    Glutamate metabolism    Propanoate metabolism    beta-Alanine metabolism    Valine, leucine and isoleucine degradation    Alanine and aspartate metabolism   
NDEx NetworkABAT
Atlas of Cancer Signalling NetworkABAT
Wikipedia pathwaysABAT
Orthology - Evolution
OrthoDB18
GeneTree (enSembl)ENSG00000183044
Phylogenetic Trees/Animal Genes : TreeFamABAT
HOGENOMP80404
Homologs : HomoloGeneABAT
Homology/Alignments : Family Browser (UCSC)ABAT
Gene fusions - Rearrangements
Fusion PortalABAT C16orf62
Fusion PortalABAT KIAA0430
Fusion : QuiverABAT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABAT [hg38]
dbVarABAT
ClinVarABAT
MonarchABAT
1000_GenomesABAT 
Exome Variant ServerABAT
GNOMAD BrowserENSG00000183044
Varsome BrowserABAT
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]  
Somatic Mutations in Cancer : COSMIC3DABAT
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137150    613163   
Orphanet3577   
DisGeNETABAT
MedgenABAT
Genetic Testing Registry ABAT
NextProtP80404 [Medical]
GENETestsABAT
Target ValidationABAT
Huge Navigator ABAT [HugePedia]
ClinGenABAT
Clinical trials, drugs, therapy
MyCancerGenomeABAT
Protein Interactions : CTD
Pharm GKB GenePA24372
Clinical trialABAT
Miscellaneous
canSAR (ICR)ABAT (select the gene name)
HarmonizomeABAT
DataMed IndexABAT
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABAT
EVEXABAT
GoPubMedABAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:44:48 CET 2020
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