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ABAT (4-aminobutyrate aminotransferase)

Identity

Alias (NCBI)GABA-AT
GABAT
NPD009
HGNC (Hugo) ABAT
HGNC Alias symbGABAT
GABA-T
HGNC Alias name4-aminobutyrate transaminase
 gamma-aminobutyrate aminotransferase
 GABA transaminase
LocusID (NCBI) 18
Atlas_Id 58380
Location 16p13.2  [Link to chromosome band 16p13]
Location_base_pair Starts at 8674617 and ends at 8784569 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)

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    4-aminobutyrate aminotransferase
AliasesGABA-AT; GABAT; NPD009
GeneCards (Weizmann)ABAT
Ensembl hg19 (Hinxton)ENSG00000183044 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183044 [Gene_View]  ENSG00000183044 [Sequence]  chr16:8674617-8784569 [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  -     chr16:8674617-8784569 +  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_001386600 NM_001386601 NM_001386602 NM_001386603 NM_001386604 NM_001386605 NM_001386606 NM_001386607 NM_001386608 NM_001386609 NM_001386610 NM_001386611 NM_001386612 NM_001386613 NM_001386614 NM_001386615 NM_001386616 NM_020686
Consensus coding sequences : CCDS (NCBI)ABAT
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
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
SuperfamilyP80404
AlphaFold pdb e-kbP80404   
Human Protein Atlas [tissue]ENSG00000183044-ABAT [tissue]
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  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  aging  copulation  locomotory behavior  gamma-aminobutyric acid metabolic process  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  response to drug  identical protein binding  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  mitochondrion  mitochondrion  mitochondrion  mitochondrial matrix  aging  copulation  locomotory behavior  gamma-aminobutyric acid metabolic process  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  response to drug  identical protein binding  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 : 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
Homologs : HomoloGeneABAT
Homology/Alignments : Family Browser (UCSC)ABAT
Gene fusions - Rearrangements
Fusion : QuiverABAT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABAT
dbVarABAT
ClinVarABAT
MonarchABAT
1000_GenomesABAT 
Exome Variant ServerABAT
GNOMAD BrowserENSG00000183044
Varsome BrowserABAT
ACMGABAT variants
VarityP80404
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)[gene] [transcripts] [variants]
BioMutaABAT
DgiDB (Drug Gene Interaction Database)ABAT
DoCM (Curated mutations)ABAT
CIViC (Clinical Interpretations of Variants in Cancer)ABAT
Cancer3DABAT
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137150    613163   
Orphanet
DisGeNETABAT
MedgenABAT
Genetic Testing Registry ABAT
NextProtP80404 [Medical]
GENETestsABAT
Target ValidationABAT
Huge Navigator ABAT [HugePedia]
ClinGenABAT
Clinical trials, drugs, therapy
MyCancerGenomeABAT
Protein Interactions : CTDABAT
PharosP80404
Clinical trialABAT
Miscellaneous
canSAR (ICR)ABAT
HarmonizomeABAT
DataMed IndexABAT
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 14:57:58 CEST 2021

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