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    CHAT choline O-acetyltransferase [ Homo sapiens ]

    Gene ID: 1103, updated on 12-May-2012
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    Summary

    Official Symbol
    CHATprovided by HGNC
    Official Full Name
    choline O-acetyltransferaseprovided by HGNC
    Primary source
    HGNC:1912
    See related
    Ensembl:ENSG00000070748; HPRD:07510; MIM:118490; Vega:OTTHUMG00000018198
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMS1A; CMS1A2; CHOACTASE
    Summary
    This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
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    Genomic context

    Location :
    10q11.2
    Sequence :
    Chromosome: 10; NC_000010.10 (50817141..50873150)
    See CHAT in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene heat shock 60kDa protein 1 (chaperonin) pseudogene 17 Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 6 Neighboring gene piggyBac transposable element derived 3 Neighboring gene solute carrier family 18 (vesicular acetylcholine), member 3 Neighboring gene chromosome 10 open reading frame 53 Neighboring gene oxoglutarate dehydrogenase-like

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Stankiewicz P, et al. Hum Mutat, 2012 Jan. PMID 21948486.
    2. Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly. Mengel-From J, et al. Genes Brain Behav, 2011 Nov. PMID 21883924.
    3. Cholinergic imbalance in the multiple sclerosis hippocampus. Kooi EJ, et al. Acta Neuropathol, 2011 Sep. PMID 21691765.
    4. Genetic variation in the choline O-acetyltransferase gene in depression and Alzheimer's disease: the VITA and Milano studies. Grünblatt E, et al. J Psychiatr Res, 2011 Sep. PMID 21507424.
    5. Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter. Matsuo A, et al. J Biol Chem, 2011 Feb 18. PMID 21163949.

    See all (74) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Multiple abnormalities with intellectual and developmental disability result from recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3.
      Title: Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
    2. The ChAT rs3810950 A allele was found to be associated with a decrease cognitive status evaluated by a five-component cognitive composite score
      Title: Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.
    3. Multiple sclerosis hippocampus, activity and protein expression of choline acetyltransferase (ChAT), the acetylcholine synthesizing enzyme, was decreased, while the activity and protein expression of acetylcholinesterase
      Title: Cholinergic imbalance in the multiple sclerosis hippocampus.
    4. The data of this study did not seem to support a major role for CHAT genetic variation in geriatric depression and Alzheimer's disease , there might be a minor contribution in geriatric patients with depression.
      Title: Genetic variation in the choline O-acetyltransferase gene in depression and Alzheimer's disease: the VITA and Milano studies.
    5. overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene
      Title: Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.
    6. residues M84, Y436, and Y552 play a critical role in binding and holding the choline substrate in the ChAT active site.
      Title: Redesign of cosubstrate specificity and identification of important residues for substrate binding to hChAT.
    7. Although the effect sizes in both cohorts are modest, converging data across cohorts and phenotypes suggest that ChAT may be involved in nicotine dependence and ability to quit smoking.
      Title: Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. Replication and association of CHAT with nicotine dependence in European and African American smokers are reported.
      Title: Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.
    10. the acquisition of neurotransmitter phenotype is epigenetically, at least the hyper-acetylation on the core promoter region of ChAT gene, regulated in NG108-15 neuronal cells
      Title: Involvement of histone acetylation in the regulation of choline acetyltransferase gene in NG108-15 neuronal cells.
    Submit: New GeneRIF Correction See all (42)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Myasthenic syndrome, congenital, associated with episodic apnea

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P28329 Q9UQM7 CAMK2A    HPRD  PubMed  
    P28329 Q13555 CAMK2G    HPRD  PubMed  
    P28329 Q14511 NEDD9    HPRD  PubMed  
    P28329 P17252 PRKCA    HPRD  PubMed  
    P28329 P05771 PRKCB    HPRD  PubMed  
    P28329 Q05655 PRKCD    HPRD  PubMed  
    P28329 Q02156 PRKCE    HPRD  PubMed  
    P28329 P05129 PRKCG    HPRD  PubMed  
    P28329 Q05513 PRKCZ    HPRD  PubMed  
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystemAcetylcholine neurotransmitter release cycle involves syntheis of choline, loading of clathrin scultpted synaptic vesicles, docking and priming of the acetyl choline loaded synaptic vesicles and then...
    • Acetylcholine Synthesis, organism-specific biosystem (from WikiPathways)
      Acetylcholine Synthesis, organism-specific biosystemAcetylcholine is an important neurotransmitter. It can be rapidly released in the synaptic cleft upon activation of the neuron. In the synaptic cleft the compound is degraded rapidly into choline and...
    • Biogenic Amine Synthesis, organism-specific biosystem (from WikiPathways)
      Biogenic Amine Synthesis, organism-specific biosystemBiogenic amines are one of two broad classes of classical neurotransmitters (the other being amino acids) and include: acetylcholine, serotonin, histamine, and the catecholamines epinephrine, norepin...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
      Glycerophospholipid metabolism, organism-specific biosystem
      Glycerophospholipid metabolism
    • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
      Glycerophospholipid metabolism, conserved biosystem
      Glycerophospholipid metabolism
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
      Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    choline O-acetyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    choline binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity, transferring acyl groups IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acetylcholine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    antral ovarian follicle growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    establishment of synaptic specificity at neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    neurotransmitter secretion TAS
    Traceable Author Statement
    more info
    		  
    response to drug IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
    		  
    rhythmic behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    rhythmic excitation IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    synaptosome IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    choline O-acetyltransferase
    Names
    choline O-acetyltransferase
    choline acetylase
    acetyl CoA:choline O-acetyltransferase
    NP_001136401.1
    NP_001136405.1
    NP_001136406.1
    NP_065574.3
    NP_066264.3
    NP_066265.3
    NP_066266.3
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    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_011797.1 RefSeqGene

      Range
      5001..61010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142929.1 → NP_001136401.1  choline O-acetyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (M) contains alternate 5' exon M but uses a downstream start codon and encodes isoform 1. Transcript variants R, N1, N2, M and S encode isoform 1.
      Source sequence(s)
      AC073366, AF305907
      Consensus CDS
      CCDS7233.1
      UniProtKB/TrEMBL
      D3DX95
      UniProtKB/Swiss-Prot
      P28329
      Related
      ENSP00000390521, ENST00000455728
      Conserved Domains (1) summary
      pfam00755
      Location:13 – 602
      Blast Score: 2048
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    2. NM_001142933.1 → NP_001136405.1  choline O-acetyltransferase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (S) contains alternate 5' exons M and S in the 5' coding region, and uses an upstream start codon. The resulting protein (isoform 3) has a distinct N-terminus, compared to isoforms 1 and 2.
      Source sequence(s)
      AC073366, AF305908
      Consensus CDS
      CCDS44389.1
      UniProtKB/Swiss-Prot
      P28329
      Related
      ENSP00000378929, ENST00000395562
      Conserved Domains (1) summary
      pfam00755
      Location:49 – 638
      Blast Score: 2053
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    3. NM_001142934.1 → NP_001136406.1  choline O-acetyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (S) contains alternate 5' exons M and S in the 5' coding region but uses a downstream start codon and encodes isoform 1. Transcript variants R, N1, N2, M and S encode isoform 1.
      Source sequence(s)
      AC073366, AF305908
      Consensus CDS
      CCDS7233.1
      UniProtKB/TrEMBL
      D3DX95
      UniProtKB/Swiss-Prot
      P28329
      Conserved Domains (1) summary
      pfam00755
      Location:13 – 602
      Blast Score: 2048
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    4. NM_020549.4 → NP_065574.3  choline O-acetyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (M) contains alternate 5' exon M, uses an upstream start codon, and encodes isoform 2.
      Source sequence(s)
      AC073366, AF305907
      Consensus CDS
      CCDS7232.1
      UniProtKB/Swiss-Prot
      P28329
      Related
      ENSP00000337103, OTTHUMP00000019583, ENST00000337653, OTTHUMT00000047997
      Conserved Domains (1) summary
      pfam00755
      Location:131 – 720
      Blast Score: 2051
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    5. NM_020984.3 → NP_066264.3  choline O-acetyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (R) contains alternate 5' exon R and encodes isoform 1. Transcript variants R, N1, N2, M and S encode isoform 1.
      Source sequence(s)
      AC073366, AF305909
      Consensus CDS
      CCDS7233.1
      UniProtKB/TrEMBL
      D3DX95
      UniProtKB/Swiss-Prot
      P28329
      Related
      ENSP00000343486, OTTHUMP00000019584, ENST00000339797, OTTHUMT00000048003
      Conserved Domains (1) summary
      pfam00755
      Location:13 – 602
      Blast Score: 2048
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    6. NM_020985.3 → NP_066265.3  choline O-acetyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N1) contains alternate 5' exon N and uses an alternate splice site within alternate exon M, and encodes isoform 1. Transcript variants R, N1, N2, M and S encode isoform 1.
      Source sequence(s)
      AC073366, BC130615, D82340, S56138
      Consensus CDS
      CCDS7233.1
      UniProtKB/TrEMBL
      D3DX95
      UniProtKB/Swiss-Prot
      P28329
      UniProtKB/TrEMBL
      Q6LEN6
      Related
      ENSP00000345878, ENST00000351556
      Conserved Domains (1) summary
      pfam00755
      Location:13 – 602
      Blast Score: 2048
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    7. NM_020986.3 → NP_066266.3  choline O-acetyltransferase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (N2) contains alternate 5' exon N and encodes isoform 1. Transcript variants R, N1, N2, M and S encode isoform 1.
      Source sequence(s)
      AC073366, BC130615, D82341, S56138
      Consensus CDS
      CCDS7233.1
      UniProtKB/TrEMBL
      D3DX95
      UniProtKB/Swiss-Prot
      P28329
      UniProtKB/TrEMBL
      Q6LEN5
      Related
      ENSP00000378926, ENST00000395559
      Conserved Domains (1) summary
      pfam00755
      Location:13 – 602
      Blast Score: 2048
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      50817141..50873150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      45081909..45138016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC073366.4 (38296..94305) None
    genomic AF305906.1 AAK08950.1
      AAK08951.1
      AAK08952.1
    genomic CH471187.2 EAW93086.1
      EAW93087.1
      EAW93088.1
      EAW93089.1
      EAW93090.1
      EAW93091.1
      EAW93092.1
    genomic L33837.1 None
    genomic M89917.1 None
    genomic M96015.1 AAC37590.1
    genomic X56585.1 CAA39923.1
    genomic X56879.1 CAA40201.1
    genomic X65023.1 CAA46157.1
    mRNA AF305907.1 AAK08953.1
    mRNA AF305908.2 AAK08954.1
    mRNA AF305909.1 AAK08955.1
    mRNA AF450452.1 AAL48258.1
    mRNA BC130615.1 AAI30616.1
    mRNA BC130617.1 AAI30618.1
    mRNA D82339.1 BAA18943.1
    mRNA D82340.1 BAA18944.1
    mRNA D82341.1 BAA18945.1
    mRNA D82342.1 BAA18946.1
    mRNA S45018.1 AAB23557.2
    mRNA S56138.1 AAA14245.1
    other-genetic HQ258314.1 ADR83068.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28329.4 GenPept UniProtKB/Swiss-Prot:P28329
    Q6LBL1 GenPept UniProtKB/TrEMBL:Q6LBL1
    Q6LDF3 GenPept UniProtKB/TrEMBL:Q6LDF3
    Q6LEN5 GenPept UniProtKB/TrEMBL:Q6LEN5
    Q6LEN6 GenPept UniProtKB/TrEMBL:Q6LEN6
    Q8WXE3 GenPept UniProtKB/TrEMBL:Q8WXE3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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