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Gene Detail
Symbol

Name
ID
Chat
choline acetyltransferase
MGI:88392
Synonyms
B230380D24Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 14
19.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr14:32408203-32465909 bp, - strand
From NCBI annotation of GRCm38

  57707 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:40693  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CHAT
Protein SuperFamily: carnitine O-acetyltransferase
Gene Tree: Chat

Human
homologs
CHAT, choline O-acetyltransferase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1103
neXtProt AC: NX_P28329

Human Synonyms: CHOACTASE, CMS1A, CMS1A2, CMS6

Human Chr (Location): 10q11.2; chr10:49609095-49665104 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CHAT

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Targeted(12)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in hyperinnervation of motor neurons, abnormal morphology and patterning of neuromuscular synapses, and perinatal lethality. Mutant fetuses at E18.5 exhibit a hunched position, reduced body length, and carpoptosis (drop wrist).
 
Interactions
Chat interacts with 79 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process acetylcholine biosynthetic process, adult walking behavior, ...
Component axon, cytoplasm, ...
Function choline binding, choline O-acetyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (179 records)
Data Summary: Results (176)    Tissues (137)    Images (29)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 17
RNA in situ 132
RT-PCR 27
cDNA source data(19)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA CHAT ; Xenbase chat ; ZFIN chata, chatb    NEW 
Molecular
reagents
All nucleic(32) Genomic(8) cDNA(20) Primer pair(3) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000021919 (Evidence)
Entrez Gene 12647 (Evidence)
UniGene 442817
DFCI TC1588570, TC1657016
DoTS DT.101717706, DT.110772748, DT.110772757, DT.55165451, DT.55165514, DT.94174404, DT.94190894
EC 2.3.1.6
Consensus CDS Project CCDS26920.1
International Mouse Phenotyping Consortium Status Chat
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 12647 NCBI Gene Model | MGI Sequence Detail 57707 C57BL/6J ±  kb
transcript NM_009891 RefSeq | MGI Sequence Detail 2810 C57BL/6 
polypeptide Q03059 UniProt | EBI | MGI Sequence Detail 641 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(272 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000542 Acyltransferase ChoActase/COT/CPT
Protein Ontology PR:000005404 choline O-acetyltransferase
Graphical View of Protein Domain Structure
References
(Earliest) J:10493 Ishii K, et al., Complementary DNAs for choline acetyltransferase from spinal cords of rat and mouse: nucleotide sequences, expression in mammalian cells, and in situ hybridization. Brain Res Mol Brain Res. 1990 Feb;7(2):151-9
(Latest) J:221159 Stubbusch J, et al., Lineage and stage specific requirement for Dicer1 in sympathetic ganglia and adrenal medulla formation and maintenance. Dev Biol. 2015 Apr 15;400(2):210-23
All references(285)
Other
accession IDs
MGD-MRK-1967, MGI:2443404

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory