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CHAT choline O-acetyltransferase [ Homo sapiens (human) ]

Gene ID: 1103, updated on 12-Apr-2014
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]
Location :
10q11.2
Sequence :
Chromosome: 10; NC_000010.11 (49609095..49665104)
See CHAT in Epigenomics, MapViewer

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene heat shock 60kDa protein 1 (chaperonin) pseudogene 17 Neighboring gene excision repair cross-complementation group 6 Neighboring gene ERCC6-PGBD3 readthrough Neighboring gene piggyBac transposable element derived 3 Neighboring gene solute carrier family 18 (vesicular acetylcholine transporter), member 3 Neighboring gene chromosome 10 open reading frame 53 Neighboring gene oxoglutarate dehydrogenase-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • 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
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • 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...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Synthesis of PC, organism-specific biosystem (from REACTOME)
    Synthesis of PC, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylcholine (PC) involves phosphorylation of choline (Cho) to phosphocholine (PCho) followed by condensing with cytidine triphosphate (CTP) to form CDP-...
  • 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,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
choline O-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adult walking behavior 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
 
glycerophospholipid biosynthetic process TAS
Traceable Author Statement
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
neuromuscular synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
rhythmic behavior IEA
Inferred from Electronic Annotation
more info
 
rhythmic excitation IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
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 
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

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_001142929.1NP_001136401.1  choline O-acetyltransferase isoform 1

    See proteins identical to NP_001136401.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (M) contains alternate 5' exon M (PMID 7616604) 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
    Conserved Domains (1) summary
    pfam00755
    Location:13602
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  2. NM_001142933.1NP_001136405.1  choline O-acetyltransferase isoform 3

    See proteins identical to NP_001136405.1

    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 (PMID 11172068). The resulting protein (isoform 3) has a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AC073366, AF305908
    Consensus CDS
    CCDS44389.1
    UniProtKB/Swiss-Prot
    P28329
    Related
    ENSP00000378929, ENST00000395562
    Conserved Domains (1) summary
    pfam00755
    Location:49638
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  3. NM_001142934.1NP_001136406.1  choline O-acetyltransferase isoform 1

    See proteins identical to NP_001136406.1

    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 (PMID 11172068). 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:13602
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  4. NM_020549.4NP_065574.3  choline O-acetyltransferase isoform 2

    See proteins identical to NP_065574.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (M) contains alternate 5' exon M (PMID 7616604) and uses an upstream start codon. The resulting protein (isoform 2) has a longer N-terminus compared to isoform 1
    Source sequence(s)
    AC073366, AF305907
    Consensus CDS
    CCDS7232.1
    UniProtKB/Swiss-Prot
    P28329
    Related
    ENSP00000337103, OTTHUMP00000019583, ENST00000337653, OTTHUMT00000047997
    Conserved Domains (1) summary
    pfam00755
    Location:131720
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  5. NM_020984.3NP_066264.3  choline O-acetyltransferase isoform 1

    See proteins identical to NP_066264.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (R) contains alternate 5' exon R (PMID 7616604) 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:13602
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  6. NM_020985.3NP_066265.3  choline O-acetyltransferase isoform 1

    See proteins identical to NP_066265.3

    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 (PMID 9073174). Transcript variants R, N1, N2, M and S encode isoform 1.
    Source sequence(s)
    AC073366, AF305907, BC130615, D82340
    Consensus CDS
    CCDS7233.1
    UniProtKB/TrEMBL
    D3DX95
    UniProtKB/Swiss-Prot
    P28329
    UniProtKB/TrEMBL
    Q6LEN6
    Related
    ENSP00000345878, ENST00000351556
    Conserved Domains (1) summary
    pfam00755
    Location:13602
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase
  7. NM_020986.3NP_066266.3  choline O-acetyltransferase isoform 1

    See proteins identical to NP_066266.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (N2) contains alternate 5' exon N and encodes isoform 1 (PMID 9073174). Transcript variants R, N1, N2, M and S encode isoform 1.
    Source sequence(s)
    AC073366, AF305907, BC130615, D82340, D82341
    Consensus CDS
    CCDS7233.1
    UniProtKB/TrEMBL
    D3DX95
    UniProtKB/Swiss-Prot
    P28329
    UniProtKB/TrEMBL
    Q6LEN5
    Related
    ENSP00000378926, ENST00000395559
    Conserved Domains (1) summary
    pfam00755
    Location:13602
    Blast Score: 2127
    Carn_acyltransf; Choline/Carnitine o-acyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38 Primary Assembly

    Range
    49609095..49665104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 Alternate HuRef

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

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    51099225..51155226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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