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    Chat choline O-acetyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 12647, updated on 27-Nov-2024

    Summary

    Official Symbol
    Chatprovided by MGI
    Official Full Name
    choline O-acetyltransferaseprovided by MGI
    Primary source
    MGI:MGI:88392
    See related
    Ensembl:ENSMUSG00000021919 AllianceGenome:MGI:88392
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CHOACTase; B230380D24Rik
    Summary
    Enables choline O-acetyltransferase activity. Acts upstream of or within several processes, including adult walking behavior; establishment of synaptic specificity at neuromuscular junction; and rhythmic excitation. Located in axon; cytoplasm; and neuronal cell body. Is expressed in several structures, including alimentary system; cranium; heart; nervous system; and retina. Used to study congenital myasthenic syndrome 6. Human ortholog(s) of this gene implicated in Alzheimer's disease and congenital myasthenic syndrome 6. Orthologous to human CHAT (choline O-acetyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 1.7), colon adult (RPKM 0.5) and 11 other tissues See more
    Orthologs
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    Genomic context

    See Chat in Genome Data Viewer
    Location:
    14 B; 14 19.4 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (32130160..32187866, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (32408203..32465909, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene oxoglutarate dehydrogenase-like Neighboring gene predicted gene, 52134 Neighboring gene RIKEN cDNA 1700024G13 gene Neighboring gene STARR-seq mESC enhancer starr_36344 Neighboring gene solute carrier family 18 (vesicular monoamine), member 3 Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 6 Neighboring gene dorsal root ganglia homeobox

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables choline O-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables choline O-acetyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables choline O-acetyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables choline binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    choline O-acetyltransferase
    Names
    choline acetylase
    choline acetyltransferase
    NP_034021.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009891.2NP_034021.1  choline O-acetyltransferase

      See identical proteins and their annotated locations for NP_034021.1

      Status: VALIDATED

      Source sequence(s)
      AK046406
      Consensus CDS
      CCDS26920.1
      UniProtKB/Swiss-Prot
      Q03059
      UniProtKB/TrEMBL
      Q8BQV2
      Related
      ENSMUSP00000070865.5, ENSMUST00000070125.6
      Conserved Domains (1) summary
      pfam00755
      Location:24612
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      32130160..32187866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)