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MGP000537

Record overview

MGPD IDMGP000537
Gene ID1103
SpeciesHomo sapiens (Human)
Gene Namecholine O-acetyltransferase
Gene Symbol CHAT
SynonymsCMS1A; CMS1A2; CHOACTASE;
Alternate namescholine O-acetyltransferase; acetyl CoA:choline O-acetyltransferase; choline acetylase;
Chromosome10
Map Location10q11.2
EC Number2.3.1.6;
SummaryThis 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]
OrthologsView 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:
MAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAV
IFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVV
INFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGA
NRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDN
YGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGM
AIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDM
RDLCSLLPPTESKPLATKEKATRPSQGHQP
 
choline O-acetyltransferase isoform 1
Refseq ID:NP_001136401
Protein GI:218931221
UniProt ID:P28329
mRNA ID:NM_001142929
Length:630
RefSeq Status:
Protein sequence is identical to GI:188595668 (mRNA isoform)
 
choline O-acetyltransferase isoform 1
Refseq ID:NP_066266
Protein GI:188595684
UniProt ID:P28329
mRNA ID:NM_020986
Length:630
RefSeq Status:
Protein sequence is identical to GI:188595668 (mRNA isoform)
 
choline O-acetyltransferase isoform 1
Refseq ID:NP_066265
Protein GI:188595672
UniProt ID:P28329
mRNA ID:NM_020985
Length:630
RefSeq Status:
Protein sequence is identical to GI:188595668 (mRNA isoform)
 
choline O-acetyltransferase isoform 1
Refseq ID:NP_001136406
Protein GI:218931226
UniProt ID:P28329
mRNA ID:NM_001142934
Length:630
RefSeq Status:
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:
MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLC
IPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLN
DMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIMPE
PEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSD
THRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAE
KLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLL
KDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCK
ETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
 
choline O-acetyltransferase isoform 3
Refseq ID:NP_001136405
Protein GI:218931224
UniProt ID:P28329
mRNA ID:NM_001142933
Length:666
RefSeq Status:
MWPECRDEALSTVGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQK
LLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRL
PGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIE
RCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELPAPRR
LRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVR
AVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACY
NPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP
 
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