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

Summary

Official Symbol: Chatprovided by MGI
Official Full Name: choline 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, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 1.7), colon adult (RPKM 0.5) and 11 other tissues See more
Orthologs: human all
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Genomic context

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_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cholinergic neurons in the basal forebrain are involved in behavioral abnormalities associated with Cul3 deficiency: Role of prefrontal cortex projections in cognitive deficits.
Title: Cholinergic neurons in the basal forebrain are involved in behavioral abnormalities associated with Cul3 deficiency: Role of prefrontal cortex projections in cognitive deficits.
The ChAT-acetylcholine pathway promotes group 2 innate lymphoid cell responses and anti-helminth immunity.
Title: The ChAT-acetylcholine pathway promotes group 2 innate lymphoid cell responses and anti-helminth immunity.
Choline Acetyltransferase Induces the Functional Regeneration of the Salivary Gland in Aging SAMP1/Kl -/- Mice.
Title: Choline Acetyltransferase Induces the Functional Regeneration of the Salivary Gland in Aging SAMP1/Kl -/- Mice.
Chat is induced by IL-21 in T cells during infection to facilitate T cell entry into infected tissues
Title: Choline acetyltransferase-expressing T cells are required to control chronic viral infection.
The numbers of nAChR alpha4 immuno-positive cells and western blot levels were significally increased by 15-Hz auricular electrical stimulation in the hippocampal CA2 output cortex. The numbers of choline acetyltransferase (ChAT) - a key enzyme for biosynthesis of ACh - immuno-positive cells and western blot levels had no significant differences.
Title: Short-term auricular electrical stimulation rapidly elevated cortical blood flow and promoted the expression of nicotinic acetylcholine receptor α4 in the 2 vessel occlusion rats model.
These results suggest that ChAT, CGRP, and KCC2 may be objective indicators of nerve regeneration, and altering their expression may be related to the functional recovery and axonal re-extension.
Title: Changes in the expression and localization of signaling molecules in mouse facial motor neurons during regeneration of facial nerves.
Lmna gene product might play a crucial role in the ChAT-dependent molecular differentiation cascade.
Title: Lamin A/C Is Required for ChAT-Dependent Neuroblastoma Differentiation.
cholinergic transmission in the knock-out dorsal motor nucleus of vagus was overactivated because knock-out mice lack CPEB2-suppressed translation of the rate-limiting enzyme in the production of acetylcholine (i.e., choline acetyltransferase)
Title: Deficiency of CPEB2-Confined Choline Acetyltransferase Expression in the Dorsal Motor Nucleus of Vagus Causes Hyperactivated Parasympathetic Signaling-Associated Bronchoconstriction.
Study describes in detail a population of choline acetyltransferase immunoreactive /glutamate decarboxylase 67 neurons predominantly ventral to the central canal of the cervical, thoracic and lumbar spinal cord of adult and juvenile mice. These cells potentially correspond to a sub-population of the cholinergic central canal cluster cells which may play a unique role in controlling spinal cord circuitry.
Title: Co-expression of GAD67 and choline acetyltransferase in neurons in the mouse spinal cord: A focus on lamina X.
The isolation and characterization of CD4 TChAT cells will enable analysis of the role of these cells in hypotension and hypertension, and may suggest novel therapeutic strategies by targeting cell-mediated vasorelaxation.
Title: Blood pressure regulation by CD4(+) lymphocytes expressing choline acetyltransferase.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

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

Targeted (13) 1 citation
Endonuclease-mediated (5) 1 citation

General gene information

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Markers

Chat (e-PCR), detects polymorphism
- UniSTS:141331

Chat (e-PCR), detects polymorphism
- UniSTS:506796

D14Mit52 (e-PCR), detects polymorphism
- UniSTS:127409

Chat (e-PCR), detects polymorphism
- UniSTS:265455

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
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
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acetylcholine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetylcholine biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendrite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of synaptic specificity at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in memory	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rhythmic behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rhythmic excitation	IMP Inferred from Mutant Phenotype more info	PubMed

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 more info	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

General protein information

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Preferred Names: choline O-acetyltransferase

Names: choline acetylase

NP_034021.1

EC 2.3.1.6

NCBI Reference Sequences (RefSeq)

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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.