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Database:

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Homo sapiens choline O-acetyltransferase (CHAT), transcript variant R, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_020984 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant R, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_020984.3, 188595667
Length 2124 bp
Structure linear
Update Date 18-APR-2013
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, May 2010].


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
Misc Feature(1)63..65
Misc Feature(2)210..1979
Misc Feature(3)210..1979
Exon (1)1..105
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (2)106..206
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (3)207..398
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (4)399..517
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (5)518..571
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (6)572..752
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (7)753..930
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (8)931..1100
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (9)1101..1201
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (10)1202..1330
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (11)1331..1453
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (12)1454..1595
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (13)1596..1658
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (14)1659..1796
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Exon (15)1797..2124
Gene:CHAT
Gene Synonym:CHOACTASE; CMS1A; CMS1A2
Translation MAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGET LQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAVIFARQHFPGTDDQLRFAASL ISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSYRLPGHTQDTLVAQNSSIM PEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPIGLLTSDGR SEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGA NRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHMTQSSRKLIRADSVSELP APRRLRWKCSPEIQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVA LQLAFYRLHRRLVPTYESASIRRFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLL LLKDAIRAQTAYTVMAITGMAIDNHLLALRELARAMCKELPEMFMDETYLMSNRFVLSTS QVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCKETSSSKFAKAVEESLIDM RDLCSLLPPTESKPLATKEKATRPSQGHQP
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Position Chain Variation Link
33+dbSNP:
33+c, tdbSNP:186028903
70+c, gdbSNP:80200823
133+dbSNP:
133+c, gdbSNP:149711635
146+a, gdbSNP:79914771
168+c, tdbSNP:200361897
177+a, gdbSNP:3810950
206+c, tdbSNP:143723043
225+dbSNP:
225+a, gdbSNP:201479289
227+a, gdbSNP:199527987
233+a, gdbSNP:199675090
236+c, gdbSNP:116390167
254+a, gdbSNP:77296560
257+c, tdbSNP:61731734
271+a, gdbSNP:202059535
293+a, gdbSNP:143662656
313+c, tdbSNP:148155075
348+a, gdbSNP:115032198
359+c, gdbSNP:200143133
375+c, tdbSNP:141111059
382+c, tdbSNP:75011234
395+c, tdbSNP:150236872
448+dbSNP:
448+c, tdbSNP:121912820
450+c, gdbSNP:121912815
484+c, gdbSNP:8178989
497+c, tdbSNP:142740451
503+c, tdbSNP:79030468
530+dbSNP:
530+c, gdbSNP:78925077
543+a, gdbSNP:137899400
546+c, tdbSNP:8178990
564+c, gdbSNP:115510708
606+dbSNP:
606+c, tdbSNP:74133815
608+a, gdbSNP:114090981
617+a, gdbSNP:142237923
669+a, gdbSNP:146236256
677+c, tdbSNP:200423662
685+c, tdbSNP:139352363
705+a, gdbSNP:141599748
715+c, tdbSNP:868749
722+c, tdbSNP:113897064
728+c, tdbSNP:76570508
729+a, gdbSNP:116362950
733+c, g, tdbSNP:75466054
748+a, gdbSNP:149976821
783+dbSNP:
783+c, tdbSNP:147815999
787+a, gdbSNP:200176236
800+g, tdbSNP:201359694
826+c, tdbSNP:121912823
851+c, tdbSNP:145203976
852+a, gdbSNP:200776329
855+c, tdbSNP:182935725
863+a, tdbSNP:200009054
869+a, tdbSNP:74340719
888+a, gdbSNP:61731735
906+a, gdbSNP:75262191
941+dbSNP:
941+c, tdbSNP:61115650
942+c, tdbSNP:141794970
943+a, gdbSNP:201616704
950+a, gdbSNP:115126024
954+c, gdbSNP:115212829
992+c, tdbSNP:141690626
993+a, gdbSNP:115877658
994+c, tdbSNP:114932900
995+a, gdbSNP:200321426
996+c, tdbSNP:201553605
1017+a, gdbSNP:8178991
1030+a, cdbSNP:192592698
1067+c, tdbSNP:116071049
1077+c, tdbSNP:121912822
1085+c, tdbSNP:201381950
1118+dbSNP:
1118+c, tdbSNP:146284420
1119+a, gdbSNP:115964813
1126+a, gdbSNP:139416405
1140+a, gdbSNP:121912816
1191+c, tdbSNP:76014951
1200+a, gdbSNP:4838544
1210+dbSNP:
1210+a, gdbSNP:148525631
1227+c, tdbSNP:142889639
1238+c, tdbSNP:200175587
1254+a, gdbSNP:3793795
1261+a, gdbSNP:202125860
1263+a, gdbSNP:121912818
1279+g, tdbSNP:201293521
1304+a, gdbSNP:151031033
1309+c, tdbSNP:141878259
1312+c, tdbSNP:121912821
1313+a, gdbSNP:139722660
1330+a, gdbSNP:200335347
1335+dbSNP:
1335+g, tdbSNP:121912817
1360+a, gdbSNP:144918120
1385+a, gdbSNP:74433353
1389+a, gdbSNP:75981983
1454+dbSNP:
1454+g, tdbSNP:201857639
1460+c, tdbSNP:8178992
1462+a, gdbSNP:141881680
1473+c, tdbSNP:147079245
1481+c, tdbSNP:145370753
1487+c, tdbSNP:55702495
1493+c, tdbSNP:7073028
1494+a, gdbSNP:202040717
1498+a, gdbSNP:121912819
1501+a, gdbSNP:80097077
1522..1524+, acadbSNP:139324199
1568+c, gdbSNP:201580702
1590+a, gdbSNP:201485243
1603+dbSNP:
1603+a, tdbSNP:190968891
1625+c, tdbSNP:111795945
1633+a, gdbSNP:199926163
1701+dbSNP:
1701+a, cdbSNP:116097791
1702+a, gdbSNP:114545628
1713+c, tdbSNP:141127966
1724+a, cdbSNP:145243180
1774+a, gdbSNP:116628504
1792+a, gdbSNP:138105397
1886+dbSNP:
1886+c, tdbSNP:3793801
1900+c, gdbSNP:201439531
1946+a, cdbSNP:145995632
1961+a, cdbSNP:114208185
1996+c, tdbSNP:79414242
1997+a, gdbSNP:77144546
2002+c, tdbSNP:74334349
2031+a, gdbSNP:142285373
2041+a, gdbSNP:114719193
2094..2095+, cdbSNP:145178233
2100+a, cdbSNP:199684404
Gene SymbolCHAT
Gene SynonymCHOACTASE; CMS1A; CMS1A2
Chromosome10
Locus Map10q11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001142929 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. On-demand $849.00 20
NM_001142933 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant S, mRNA. On-demand $849.00 20
NM_001142934 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant S, mRNA. On-demand $849.00 20
NM_020549 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. On-demand $849.00 20
NM_020984 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant R, mRNA. On-demand $849.00 20
NM_020985 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N1, mRNA. On-demand $849.00 20
NM_020986 Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N2, mRNA. On-demand $849.00 20
Title Synaptic proteins and choline acetyltransferase loss in visual cortex in dementia with Lewy bodies .
Author Mukaetova-Ladinska,E.B., Andras,A., Milne,J., Abdel-All,Z., Borr,I., Jaros,E., Perry,R.H., Honer,W.G., Cleghorn,A., Doherty,J., McIntosh,G., Perry,E.K., Kalaria,R.N. and McKeith,I.G.
Journal J. Neuropathol. Exp. Neurol. 72 (1), 53-60 (2013)
Title Subcellular distribution of choline acetyltransferase by immunogold electron microscopy in non-neuronal cells: placenta, airways and murine embryonic stem cells .
Author Wessler,I., Michel-Schmidt,R., Brochhausen,C. and Kirkpatrick,C.J.
Journal Life Sci. 91 (21-22), 977-980 (2012)
Title Presence of ChAT mRNA and a very marked alpha7nAChR immunoreaction in the synovial lining layer of the knee joint .
Author Forsgren,S.
Journal Life Sci. 91 (21-22), 1043-1047 (2012)
Title Prevention of age-related memory deficit in transgenic mice by human choline acetyltransferase .
Author Dong,Z. and Fu,A.
Journal Eur. J. Pharmacol. 683 (1-3), 174-178 (2012)
Title Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats .
Author Stankiewicz,P., Kulkarni,S., Dharmadhikari,A.V., Sampath,S., Bhatt,S.S., Shaikh,T.H., Xia,Z., Pursley,A.N., Cooper,M.L., Shinawi,M., Paciorkowski,A.R., Grange,D.K., Noetzel,M.J., Saunders,S., Simons,P., Summar,M., Lee,B., Scaglia,F., Fellmann,F., Martinet,D., Beckmann,J.S., Asamoah,A., Platky,K., Sparks,S., Martin,A.S., Madan-Khetarpal,S., Hoover,J., Medne,L., Bonnemann,C.G., Moeschler,J.B., Vallee,S.E., Parikh,S., Irwin,P., Dalzell,V.P., Smith,W.E., Banks,V.C., Flannery,D.B., Lovell,C.M., Bellus,G.A., Golden-Grant,K., Gorski,J.L., Kussmann,J.L., McGregor,T.L., Hamid,R., Pfotenhauer,J., Ballif,B.C., Shaw,C.A., Kang,S.H., Bacino,C.A., Patel,A., Rosenfeld,J.A., Cheung,S.W. and Shaffer,L.G.
Journal Hum. Mutat. 33 (1), 165-179 (2012)
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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