Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GOT1 (glutamic-oxaloacetic transaminase 1)

Identity

Alias_namesglutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)
glutamic-oxaloacetic transaminase 1, soluble
Alias_symbol (synonym)AST1
Other aliasASTQTL1
GIG18
cAspAT
cCAT
HGNC (Hugo) GOT1
LocusID (NCBI) 2805
Atlas_Id 43000
Location 10q24.2  [Link to chromosome band 10q24]
Location_base_pair Starts at 99396870 and ends at 99430773 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)
ETV6 (12p13.2) / GOT1 (10q24.2)GOT1 (10q24.2) / FABP1 (2p11.2)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;12)(q24;p13) ETV6/GOT1

External links

Nomenclature
HGNC (Hugo)GOT1   4432
Cards
Entrez_Gene (NCBI)GOT1  2805  glutamic-oxaloacetic transaminase 1
AliasesAST1; ASTQTL1; GIG18; cAspAT; 
cCAT
GeneCards (Weizmann)GOT1
Ensembl hg19 (Hinxton)ENSG00000120053 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120053 [Gene_View]  ENSG00000120053 [Sequence]  chr10:99396870-99430773 [Contig_View]  GOT1 [Vega]
ICGC DataPortalENSG00000120053
TCGA cBioPortalGOT1
AceView (NCBI)GOT1
Genatlas (Paris)GOT1
WikiGenes2805
SOURCE (Princeton)GOT1
Genetics Home Reference (NIH)GOT1
Genomic and cartography
GoldenPath hg38 (UCSC)GOT1  -     chr10:99396870-99430773 -  10q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GOT1  -     10q24.2   [Description]    (hg19-Feb_2009)
GoldenPathGOT1 - 10q24.2 [CytoView hg19]  GOT1 - 10q24.2 [CytoView hg38]
ImmunoBaseENSG00000120053
Mapping of homologs : NCBIGOT1 [Mapview hg19]  GOT1 [Mapview hg38]
OMIM138180   614419   
Gene and transcription
Genbank (Entrez)AF052153 AK293483 AK301916 AK309174 AK312684
RefSeq transcript (Entrez)NM_002079
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GOT1
Cluster EST : UnigeneHs.500756 [ NCBI ]
CGAP (NCI)Hs.500756
Alternative Splicing GalleryENSG00000120053
Gene ExpressionGOT1 [ NCBI-GEO ]   GOT1 [ EBI - ARRAY_EXPRESS ]   GOT1 [ SEEK ]   GOT1 [ MEM ]
Gene Expression Viewer (FireBrowse)GOT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2805
GTEX Portal (Tissue expression)GOT1
Human Protein AtlasENSG00000120053-GOT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17174   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17174  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17174
Splice isoforms : SwissVarP17174
Catalytic activity : Enzyme2.6.1.1 [ Enzyme-Expasy ]   2.6.1.12.6.1.1 [ IntEnz-EBI ]   2.6.1.1 [ BRENDA ]   2.6.1.1 [ KEGG ]   
PhosPhoSitePlusP17174
Domaine pattern : Prosite (Expaxy)AA_TRANSFER_CLASS_1 (PS00105)   
Domains : Interpro (EBI)Aminotransferase_I/II    Asp_trans    NHTrfase_class1_PyrdxlP-BS    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_dom1    PyrdxlP-dep_Trfase_major   
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)   
Domain families : Pfam (NCBI)pfam00155   
Conserved Domain (NCBI)GOT1
DMDM Disease mutations2805
Blocks (Seattle)GOT1
PDB (RSDB)3II0    3WZF   
PDB Europe3II0    3WZF   
PDB (PDBSum)3II0    3WZF   
PDB (IMB)3II0    3WZF   
Structural Biology KnowledgeBase3II0    3WZF   
SCOP (Structural Classification of Proteins)3II0    3WZF   
CATH (Classification of proteins structures)3II0    3WZF   
SuperfamilyP17174
Human Protein Atlas [tissue]ENSG00000120053-GOT1 [tissue]
Peptide AtlasP17174
HPRD00687
IPIIPI00219029   IPI00922421   IPI01014476   
Protein Interaction databases
DIP (DOE-UCLA)P17174
IntAct (EBI)P17174
FunCoupENSG00000120053
BioGRIDGOT1
STRING (EMBL)GOT1
ZODIACGOT1
Ontologies - Pathways
QuickGOP17174
Ontology : AmiGOL-aspartate:2-oxoglutarate aminotransferase activity  L-aspartate:2-oxoglutarate aminotransferase activity  L-aspartate:2-oxoglutarate aminotransferase activity  phosphatidylserine decarboxylase activity  nucleus  nucleoplasm  cytoplasm  lysosome  cytosol  cytosol  cytosol  gluconeogenesis  2-oxoglutarate metabolic process  oxaloacetate metabolic process  glycerol biosynthetic process  aspartate metabolic process  aspartate biosynthetic process  aspartate catabolic process  glutamate metabolic process  Notch signaling pathway  cellular amino acid biosynthetic process  response to carbohydrate  glutamate catabolic process to aspartate  glutamate catabolic process to 2-oxoglutarate  pyridoxal phosphate binding  positive regulation of transforming growth factor beta receptor signaling pathway  carboxylic acid binding  cellular response to insulin stimulus  negative regulation of collagen biosynthetic process  response to immobilization stress  axon terminus  response to cadmium ion  L-cysteine:2-oxoglutarate aminotransferase activity  response to glucocorticoid  negative regulation of cytosolic calcium ion concentration  negative regulation of mitochondrial depolarization  fatty acid homeostasis  transdifferentiation  extracellular exosome  cellular response to mechanical stimulus  response to transition metal nanoparticle  
Ontology : EGO-EBIL-aspartate:2-oxoglutarate aminotransferase activity  L-aspartate:2-oxoglutarate aminotransferase activity  L-aspartate:2-oxoglutarate aminotransferase activity  phosphatidylserine decarboxylase activity  nucleus  nucleoplasm  cytoplasm  lysosome  cytosol  cytosol  cytosol  gluconeogenesis  2-oxoglutarate metabolic process  oxaloacetate metabolic process  glycerol biosynthetic process  aspartate metabolic process  aspartate biosynthetic process  aspartate catabolic process  glutamate metabolic process  Notch signaling pathway  cellular amino acid biosynthetic process  response to carbohydrate  glutamate catabolic process to aspartate  glutamate catabolic process to 2-oxoglutarate  pyridoxal phosphate binding  positive regulation of transforming growth factor beta receptor signaling pathway  carboxylic acid binding  cellular response to insulin stimulus  negative regulation of collagen biosynthetic process  response to immobilization stress  axon terminus  response to cadmium ion  L-cysteine:2-oxoglutarate aminotransferase activity  response to glucocorticoid  negative regulation of cytosolic calcium ion concentration  negative regulation of mitochondrial depolarization  fatty acid homeostasis  transdifferentiation  extracellular exosome  cellular response to mechanical stimulus  response to transition metal nanoparticle  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Cysteine and methionine metabolism    Arginine and proline metabolism    Tyrosine metabolism    Phenylalanine metabolism    Phenylalanine, tyrosine and tryptophan biosynthesis   
NDEx NetworkGOT1
Atlas of Cancer Signalling NetworkGOT1
Wikipedia pathwaysGOT1
Orthology - Evolution
OrthoDB2805
GeneTree (enSembl)ENSG00000120053
Phylogenetic Trees/Animal Genes : TreeFamGOT1
HOGENOMP17174
Homologs : HomoloGeneGOT1
Homology/Alignments : Family Browser (UCSC)GOT1
Gene fusions - Rearrangements
Fusion : MitelmanETV6/GOT1 [12p13.2/10q24.2]  [t(10;12)(q24;p13)]  
Fusion : QuiverGOT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGOT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GOT1
dbVarGOT1
ClinVarGOT1
1000_GenomesGOT1 
Exome Variant ServerGOT1
ExAC (Exome Aggregation Consortium)ENSG00000120053
GNOMAD BrowserENSG00000120053
Varsome BrowserGOT1
Genetic variants : HAPMAP2805
Genomic Variants (DGV)GOT1 [DGVbeta]
DECIPHERGOT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGOT1 
Mutations
ICGC Data PortalGOT1 
TCGA Data PortalGOT1 
Broad Tumor PortalGOT1
OASIS PortalGOT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGOT1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGOT1
Mutations and Diseases : HGMDGOT1
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
BioMutasearch GOT1
DgiDB (Drug Gene Interaction Database)GOT1
DoCM (Curated mutations)GOT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GOT1 (select a term)
intoGenGOT1
Cancer3DGOT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM138180    614419   
Orphanet
DisGeNETGOT1
MedgenGOT1
Genetic Testing Registry GOT1
NextProtP17174 [Medical]
TSGene2805
GENETestsGOT1
Target ValidationGOT1
Huge Navigator GOT1 [HugePedia]
snp3D : Map Gene to Disease2805
BioCentury BCIQGOT1
ClinGenGOT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2805
Chemical/Pharm GKB GenePA28817
Clinical trialGOT1
Miscellaneous
canSAR (ICR)GOT1 (select the gene name)
DataMed IndexGOT1
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGOT1
EVEXGOT1
GoPubMedGOT1
iHOPGOT1
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 : Wed Nov 13 17:45:22 CET 2019
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