Gene/Proteome Database (LMPD)

LMPD ID
LMP000060
Gene ID
1103
Species
Homo sapiens (Human)
Gene Name
choline O-acetyltransferase
Gene Symbol
CHAT
Synonyms
CHOACTASE; CMS1A; CMS1A2
Chromosome
10
Map Location
10q11.2
EC Number
2.3.1.6
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]
Orthologs
View orthologs and multiple alignments for CHAT

Proteins

choline O-acetyltransferase isoform 1
Refseq ID NP_066264
Protein GI 188595668
UniProt ID P28329
mRNA ID NM_020984
Length 630
RefSeq Status REVIEWED
MAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
choline O-acetyltransferase isoform 1
Refseq ID NP_001136406
Protein GI 218931226
UniProt ID P28329
mRNA ID NM_001142934
Length 630
RefSeq Status REVIEWED
Protein sequence is identical to GI:188595668 (mRNA isoform)
choline O-acetyltransferase isoform 1
Refseq ID NP_066265
Protein GI 188595672
UniProt ID Q6LEN6
mRNA ID NM_020985
Length 630
RefSeq Status REVIEWED
Protein sequence is identical to GI:188595668 (mRNA isoform)
choline O-acetyltransferase isoform 1
Refseq ID NP_066266
Protein GI 188595684
UniProt ID Q6LEN6
mRNA ID NM_020986
Length 630
RefSeq Status REVIEWED
Protein sequence is identical to GI:188595668 (mRNA isoform)
choline O-acetyltransferase isoform 1
Refseq ID NP_001136401
Protein GI 218931221
UniProt ID P28329
mRNA ID NM_001142929
Length 630
RefSeq Status REVIEWED
Protein sequence is identical to GI:188595668 (mRNA isoform)
choline O-acetyltransferase isoform 2
Refseq ID NP_065574
Protein GI 188595670
UniProt ID P28329
mRNA ID NM_020549
Length 748
RefSeq Status REVIEWED
MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
choline O-acetyltransferase isoform 3
Refseq ID NP_001136405
Protein GI 218931224
UniProt ID P28329
mRNA ID NM_001142933
Length 666
RefSeq Status REVIEWED
MWPECRDEALSTVGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP

Gene Information

Entrez Gene ID
1103
Gene Name
choline O-acetyltransferase
Gene Symbol
CHAT
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0030424 IEA:Ensembl C axon
GO:0005737 TAS:ProtInc C cytoplasm
GO:0005829 TAS:Reactome C cytosol
GO:0005739 IEA:Ensembl C mitochondrion
GO:0043025 IEA:Ensembl C neuronal cell body
GO:0005634 TAS:ProtInc C nucleus
GO:0004102 IEA:UniProtKB-EC F choline O-acetyltransferase activity
GO:0007628 IEA:Ensembl P adult walking behavior
GO:0016358 IEA:Ensembl P dendrite development
GO:0007529 IEA:Ensembl P establishment of synaptic specificity at neuromuscular junction
GO:0046474 TAS:Reactome P glycerophospholipid biosynthetic process
GO:0007517 IEA:Ensembl P muscle organ development
GO:0007274 IEA:Ensembl P neuromuscular synaptic transmission
GO:0042136 IEA:UniProtKB-KW P neurotransmitter biosynthetic process
GO:0007269 TAS:Reactome P neurotransmitter secretion
GO:0006656 TAS:Reactome P phosphatidylcholine biosynthetic process
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:0007622 IEA:Ensembl P rhythmic behavior
GO:0043179 IEA:Ensembl P rhythmic excitation
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0007268 TAS:Reactome P synaptic transmission

KEGG Pathway Links

KEGG Pathway ID Description
hsa04725 Cholinergic synapse

Domain Information

InterPro Annotations

Accession Description
IPR000542 Acyltransferase ChoActase/COT/CPT

UniProt Annotations

Entry Information

Gene Name
choline O-acetyltransferase
Protein Entry
CLAT_HUMAN
UniProt ID
Q6LEN6
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=M; Synonyms=83 kDa; IsoId=P28329-1; Sequence=Displayed; Name=S; Synonyms=74 kDa; IsoId=P28329-2; Sequence=VSP_000790; Name=R; Synonyms=70 kDa; IsoId=P28329-3; Sequence=VSP_000791;
Catalytic Activity Acetyl-CoA + choline = CoA + O-acetylcholine.
Disease Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA) [MIM
Function Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
Similarity Belongs to the carnitine/choline acetyltransferase family.
Web Resource Name=Wikipedia; Note=Choline acetyltransferase entry; URL="http://en.wikipedia.org/wiki/Choline_acetyltransferase";

Identical and Related Proteins

Unique RefSeq proteins for LMP000060 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
188595668 RefSeq NP_066264 630 choline O-acetyltransferase isoform 1
188595670 RefSeq NP_065574 748 choline O-acetyltransferase isoform 2
218931224 RefSeq NP_001136405 666 choline O-acetyltransferase isoform 3

Identical Sequences to LMP000060 proteins

Reference Database Accession Length Protein Name
GI:188595670 GenBank AAK08950.1 748 choline acetyltransferase isoform M [Homo sapiens]
GI:218931224 GenBank AAK08951.1 666 choline acetyltransferase isoform S [Homo sapiens]
GI:188595670 GenBank AAK08953.1 748 choline acetyltransferase isoform M [Homo sapiens]
GI:218931224 GenBank AAK08954.1 666 choline acetyltransferase isoform S [Homo sapiens]
GI:218931224 GenBank EAW93087.1 666 choline acetyltransferase, isoform CRA_b [Homo sapiens]
GI:188595670 GenBank EAW93088.1 748 choline acetyltransferase, isoform CRA_c [Homo sapiens]
GI:188595668 GenBank ADR83068.1 630 choline acetyltransferase (CHAT), transcript variant M, partial [synthetic construct]
GI:188595668 GenBank AIC62964.1 630 CHAT, partial [synthetic construct]
GI:188595668 RefSeq NP_066265.3 630 choline O-acetyltransferase isoform 1 [Homo sapiens]
GI:188595668 RefSeq NP_066266.3 630 choline O-acetyltransferase isoform 1 [Homo sapiens]
GI:188595668 RefSeq NP_001136401.1 630 choline O-acetyltransferase isoform 1 [Homo sapiens]
GI:188595668 RefSeq NP_001136406.1 630 choline O-acetyltransferase isoform 1 [Homo sapiens]

Related Sequences to LMP000060 proteins

Reference Database Accession Length Protein Name
GI:188595670 GenBank AAA14245.1 748 choline acetyltransferase [Homo sapiens]
GI:218931224 GenBank AAK08950.1 748 choline acetyltransferase isoform M [Homo sapiens]
GI:188595668 GenBank AAK08950.1 748 choline acetyltransferase isoform M [Homo sapiens]
GI:188595668 GenBank AAK08951.1 666 choline acetyltransferase isoform S [Homo sapiens]
GI:188595668 GenBank AAK08953.1 748 choline acetyltransferase isoform M [Homo sapiens]
GI:218931224 GenBank AAK08953.1 748 choline acetyltransferase isoform M [Homo sapiens]
GI:188595668 GenBank EAW93088.1 748 choline acetyltransferase, isoform CRA_c [Homo sapiens]
GI:218931224 GenBank EAW93088.1 748 choline acetyltransferase, isoform CRA_c [Homo sapiens]
GI:188595670 GenBank EHH19004.1 750 hypothetical protein EGK_19623, partial [Macaca mulatta]
GI:188595670 GenBank EHH64679.1 750 hypothetical protein EGM_17965, partial [Macaca fascicularis]
GI:188595670 PRF - 748 choline acetyltransferase [Homo sapiens]
GI:188595668 RefSeq NP_065574.3 748 choline O-acetyltransferase isoform 2 [Homo sapiens]
GI:218931224 RefSeq NP_065574.3 748 choline O-acetyltransferase isoform 2 [Homo sapiens]
GI:188595668 RefSeq NP_001136405.1 666 choline O-acetyltransferase isoform 3 [Homo sapiens]
GI:218931224 RefSeq XP_003809071.1 666 PREDICTED: choline O-acetyltransferase isoform X2 [Pan paniscus]
GI:188595670 RefSeq XP_009438635.1 748 PREDICTED: LOW QUALITY PROTEIN: choline O-acetyltransferase [Pan troglodytes]
GI:218931224 SwissProt P28329.4 748 RecName: Full=Choline O-acetyltransferase; Short=CHOACTase; Short=ChAT; Short=Choline acetylase [Homo sapiens]
GI:188595670 SwissProt P28329.4 748 RecName: Full=Choline O-acetyltransferase; Short=CHOACTase; Short=ChAT; Short=Choline acetylase [Homo sapiens]