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CHAT (choline O-acetyltransferase)

Identity

Alias (NCBI)CHOACTASE
CMS1A
CMS1A2
CMS6
HGNC (Hugo) CHAT
HGNC Previous namecholine acetyltransferase
LocusID (NCBI) 1103
Atlas_Id 50359
Location 10q11.23  [Link to chromosome band 10q11]
Location_base_pair Starts at 49613108 and ends at 49665104 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)

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)CHAT   1912
Cards
Entrez_Gene (NCBI)CHAT    choline O-acetyltransferase
AliasesCHOACTASE; CMS1A; CMS1A2; CMS6
GeneCards (Weizmann)CHAT
Ensembl hg19 (Hinxton)ENSG00000070748 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070748 [Gene_View]  ENSG00000070748 [Sequence]  chr10:49613108-49665104 [Contig_View]  CHAT [Vega]
ICGC DataPortalENSG00000070748
TCGA cBioPortalCHAT
AceView (NCBI)CHAT
Genatlas (Paris)CHAT
SOURCE (Princeton)CHAT
Genetics Home Reference (NIH)CHAT
Genomic and cartography
GoldenPath hg38 (UCSC)CHAT  -     chr10:49613108-49665104 +  10q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHAT  -     10q11.23   [Description]    (hg19-Feb_2009)
GoldenPathCHAT - 10q11.23 [CytoView hg19]  CHAT - 10q11.23 [CytoView hg38]
ImmunoBaseENSG00000070748
Genome Data Viewer NCBICHAT [Mapview hg19]  
OMIM118490   254210   
Gene and transcription
Genbank (Entrez)AF305907 AF305908 AF305909 AF450452 BC130615
RefSeq transcript (Entrez)NM_001142929 NM_001142933 NM_001142934 NM_020549 NM_020984 NM_020985 NM_020986
Consensus coding sequences : CCDS (NCBI)CHAT
Gene ExpressionCHAT [ NCBI-GEO ]   CHAT [ EBI - ARRAY_EXPRESS ]   CHAT [ SEEK ]   CHAT [ MEM ]
Gene Expression Viewer (FireBrowse)CHAT [ Firebrowse - Broad ]
GenevisibleExpression of CHAT in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1103
GTEX Portal (Tissue expression)CHAT
Human Protein AtlasENSG00000070748-CHAT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28329   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28329  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28329
PhosPhoSitePlusP28329
Domaine pattern : Prosite (Expaxy)ACYLTRANSF_C_1 (PS00439)    ACYLTRANSF_C_2 (PS00440)   
Domains : Interpro (EBI)Carn_acyl_trans    Cho/carn_acyl_trans    Cho/carn_acyl_trans_1    Cho/carn_acyl_trans_2   
Domain families : Pfam (Sanger)Carn_acyltransf (PF00755)   
Domain families : Pfam (NCBI)pfam00755   
Conserved Domain (NCBI)CHAT
PDB (RSDB)2FY2    2FY3    2FY4    2FY5    7AMD   
PDB Europe2FY2    2FY3    2FY4    2FY5    7AMD   
PDB (PDBSum)2FY2    2FY3    2FY4    2FY5    7AMD   
PDB (IMB)2FY2    2FY3    2FY4    2FY5    7AMD   
Structural Biology KnowledgeBase2FY2    2FY3    2FY4    2FY5    7AMD   
SCOP (Structural Classification of Proteins)2FY2    2FY3    2FY4    2FY5    7AMD   
CATH (Classification of proteins structures)2FY2    2FY3    2FY4    2FY5    7AMD   
SuperfamilyP28329
AlphaFold pdb e-kbP28329   
Human Protein Atlas [tissue]ENSG00000070748-CHAT [tissue]
HPRD07510
Protein Interaction databases
DIP (DOE-UCLA)P28329
IntAct (EBI)P28329
BioGRIDCHAT
STRING (EMBL)CHAT
ZODIACCHAT
Ontologies - Pathways
QuickGOP28329
Ontology : AmiGOcholine O-acetyltransferase activity  nucleus  cytoplasm  cytosol  phosphatidylcholine biosynthetic process  neurotransmitter transport  neuromuscular synaptic transmission  acetylcholine biosynthetic process  neuron projection  synapse  
Ontology : EGO-EBIcholine O-acetyltransferase activity  nucleus  cytoplasm  cytosol  phosphatidylcholine biosynthetic process  neurotransmitter transport  neuromuscular synaptic transmission  acetylcholine biosynthetic process  neuron projection  synapse  
Pathways : KEGGGlycerophospholipid metabolism    Cholinergic synapse   
NDEx NetworkCHAT
Atlas of Cancer Signalling NetworkCHAT
Wikipedia pathwaysCHAT
Orthology - Evolution
OrthoDB1103
GeneTree (enSembl)ENSG00000070748
Phylogenetic Trees/Animal Genes : TreeFamCHAT
Homologs : HomoloGeneCHAT
Homology/Alignments : Family Browser (UCSC)CHAT
Gene fusions - Rearrangements
Fusion : QuiverCHAT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHAT
dbVarCHAT
ClinVarCHAT
MonarchCHAT
1000_GenomesCHAT 
Exome Variant ServerCHAT
GNOMAD BrowserENSG00000070748
Varsome BrowserCHAT
ACMGCHAT variants
VarityP28329
Genomic Variants (DGV)CHAT [DGVbeta]
DECIPHERCHAT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHAT 
Mutations
ICGC Data PortalCHAT 
TCGA Data PortalCHAT 
Broad Tumor PortalCHAT
OASIS PortalCHAT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHAT  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCHAT
Mutations and Diseases : HGMDCHAT
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCHAT
DgiDB (Drug Gene Interaction Database)CHAT
DoCM (Curated mutations)CHAT
CIViC (Clinical Interpretations of Variants in Cancer)CHAT
Cancer3DCHAT
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118490    254210   
Orphanet13931   
DisGeNETCHAT
MedgenCHAT
Genetic Testing Registry CHAT
NextProtP28329 [Medical]
GENETestsCHAT
Target ValidationCHAT
Huge Navigator CHAT [HugePedia]
ClinGenCHAT
Clinical trials, drugs, therapy
MyCancerGenomeCHAT
Protein Interactions : CTDCHAT
Pharm GKB GenePA26448
Pharm GKB PathwaysPA2030   
PharosP28329
Clinical trialCHAT
Miscellaneous
canSAR (ICR)CHAT
HarmonizomeCHAT
DataMed IndexCHAT
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHAT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:03:47 CEST 2021

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