Homo sapiens choline O-acetyltransferase (CHAT), transcript variant R, mRNA.
| RefSeq Version | NM_020984.3, 188595667 |
| Length | 2124 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens choline O-acetyltransferase (CHAT), transcript variant R, mRNA. |
| Product | choline O-acetyltransferase isoform 1 |
| Comment | 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]. 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. |
| RefSeq | NP_066264.3 |
| CDS | 174..2066 | Exon (1) | 1..105 | Exon (2) | 1..105 | Exon (3) | 106..206 | Exon (4) | 207..398 | Exon (5) | 399..517 | Exon (6) | 518..571 | Exon (7) | 572..752 | Exon (8) | 753..930 | Exon (9) | 931..1100 | Exon (10) | 1101..1201 | Exon (11) | 1202..1330 | Exon (12) | 1331..1453 | Exon (13) | 1454..1595 | Exon (14) | 1596..1658 | Exon (15) | 1659..1796 | Exon (16) | 1797..2124 |
| Translation | MAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGET
LQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASL
ISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIM
PEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGR
SEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGA
NRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELP
APRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVA
LQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLL
LLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTS
QVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDM
RDLCSLLPPTESKPLATKEKATRPSQGHQP
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| Gene Symbol | CHAT |
| Gene Synonym | CHOACTASE; CMS1A; CMS1A2 |
| Chromosome | 10 |
| Locus Map | 10q11.2 |
| All Transcripts | NM_020984 , NM_020549 , NM_020985 , NM_020986 , NM_001142929 , NM_001142933 , NM_001142934 |
| Title | Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter . |
| Author | Matsuo,A., Bellier,J.P., Nishimura,M., Yasuhara,O., Saito,N. and Kimura,H. |
| Journal | J. Biol. Chem. 286 (7), 5836-5845 (2011) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Redesign of cosubstrate specificity and identification of important residues for substrate binding to hChAT . |
| Author | Green,K.D., Porter,V.R., Zhang,Y. and Garneau-Tsodikova,S. |
| Journal | Biochemistry 49 (29), 6219-6227 (2010) |
| Title | Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? . |
| Author | Ruano,G., Thompson,P.D., Kane,J.P., Pullinger,C.R., Windemuth,A., Seip,R.L., Kocherla,M., Holford,T.R. and Wu,A.H. |
| Journal | Pharmacogenomics 11 (7), 959-971 (2010) |
| Title | Genetic variants in nuclear-encoded mitochondrial genes influence . |
| Author | Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J. |
| Journal | PLoS ONE 5 (9), E12862 (2010) |
| Title | A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells . |
| Author | Oda,Y., Nakanishi,I. and Deguchi,T. |
| Journal | Brain Res. Mol. Brain Res. 16 (3-4), 287-294 (1992) |
| Title | Gene expression of mouse choline acetyltransferase. Alternative splicing and identification of a highly active promoter region . |
| Author | Misawa,H., Ishii,K. and Deguchi,T. |
| Journal | J. Biol. Chem. 267 (28), 20392-20399 (1992) |
| Title | Two mRNAs are transcribed from the human gene for choline acetyltransferase . |
| Author | Lorenzi,M.V., Trinidad,A.C., Zhang,R. and Strauss,W.L. |
| Journal | DNA Cell Biol. 11 (8), 593-603 (1992) |
| Title | Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions . |
| Author | Toussaint,J.L., Geoffroy,V., Schmitt,M., Werner,A., Garnier,J.M., Simoni,P. and Kempf,J. |
| Journal | Genomics 12 (2), 412-416 (1992) |
| Title | Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyltransferase gene . |
| Author | Cervini,R., Rocchi,M., DiDonato,S. and Finocchiaro,G. |
| Journal | Neurosci. Lett. 132 (2), 191-194 (1991) |
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