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

Gene ID: 1103, updated on 26-Apr-2020

Summary

Official Symbol
CHATprovided by HGNC
Official Full Name
choline O-acetyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:1912
See related
Ensembl:ENSG00000070748 MIM:118490
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
CMS6; 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]
Expression
Biased expression in placenta (RPKM 2.7), small intestine (RPKM 0.2) and 1 other tissue See more
Orthologs

Genomic context

See CHAT in Genome Data Viewer
Location:
10q11.23
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (49609095..49665104)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50817141..50873150)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene Sharpr-MPRA regulatory region 3429 Neighboring gene solute carrier family 18 member A3 Neighboring gene chromosome 10 open reading frame 53 Neighboring gene oxoglutarate dehydrogenase L

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
choline O-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
choline O-acetyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
acetylcholine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
phosphatidylcholine biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
choline O-acetyltransferase
Names
acetyl CoA:choline O-acetyltransferase
choline acetylase

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_001142929.2NP_001136401.2  choline O-acetyltransferase isoform 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
    Consensus CDS
    CCDS7233.1
  2. NM_001142933.2NP_001136405.2  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 (PMID 11172068). The resulting protein (isoform 3) has a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AC073366
    Consensus CDS
    CCDS44389.1
    Related
    ENSP00000378929.2, ENST00000395562.2
  3. NM_001142934.2NP_001136406.2  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 (PMID 11172068). Transcript variants R, N1, N2, M and S encode isoform 1.
    Source sequence(s)
    AC073366
    Consensus CDS
    CCDS7233.1
  4. NM_020549.5NP_065574.4  choline O-acetyltransferase isoform 2

    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
    Consensus CDS
    CCDS7232.1
    Related
    ENSP00000337103.2, ENST00000337653.6
  5. NM_020984.4NP_066264.4  choline O-acetyltransferase isoform 1

    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
    Consensus CDS
    CCDS7233.1
    Related
    ENSP00000343486.1, ENST00000339797.5
  6. NM_020985.4NP_066265.4  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 (PMID 9073174). Transcript variants R, N1, N2, M and S encode isoform 1.
    Source sequence(s)
    AC073366
    Consensus CDS
    CCDS7233.1
    Related
    ENSP00000345878.3, ENST00000351556.7
  7. NM_020986.4NP_066266.4  choline O-acetyltransferase isoform 1

    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
    Consensus CDS
    CCDS7233.1
    Related
    ENSP00000378926.2, ENST00000395559.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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