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Chat Gene Detail
Summary
  • Symbol
    Chat
  • Name
    choline acetyltransferase
  • Synonyms
    B230380D24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88392
    NCBI Gene: 12647
  • Gene Overview
    MyGene.info: CHAT
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr14:32408203-32465909 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      57707 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 19.40 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    CHAT, choline O-acetyltransferase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CHAT, choline O-acetyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CHOACTASE, CMS1A, CMS1A2, CMS6
  • Links
    NCBI Gene ID: 1103
    neXtProt AC: NX_P28329
    UniProt: P28329

  • Chr Location
    10q11.23; chr10:49609095-49665104 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Chat mouse models; 1 with human CHAT associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 9 alleles in 9 genetic backgrounds
    32 phenotypes from multigenic genotypes
    183 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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).
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      272 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • EC
    • InterPro Domains
      IPR000542 Acyltransferase ChoActase/COT/CPT
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 8
      cDNA 20
      Primer pair 5
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-1967, MGI:2443404
    References
    more
    • Summaries
      All 444
      Developmental Gene Expression 231
      Diseases 3
      Gene Ontology 12
      Phenotypes 183
    • 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:260151 Ito K, et al., Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Sci Rep. 2018 Jan 11;8(1):434

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory