LOCUS       NM_020549               5296 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens choline O-acetyltransferase (CHAT), transcript variant
            M, mRNA.
ACCESSION   NM_020549
VERSION     NM_020549.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5296)
  AUTHORS   Joda,M., Waters,K.A. and Machaalani,R.
  TITLE     Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in
            the human infant dorsal motor nucleus of the Vagus (DMNV), and
            alterations according to sudden infant death syndrome (SIDS)
            category
  JOURNAL   Neurobiol Dis 188, 106319 (2023)
   PUBMED   37813167
  REMARK    GeneRIF: Choline-acetyltransferase (ChAT) and acetylcholinesterase
            (AChE) in the human infant dorsal motor nucleus of the Vagus
            (DMNV), and alterations according to sudden infant death syndrome
            (SIDS) category.
REFERENCE   2  (bases 1 to 5296)
  AUTHORS   Wang,S., Zhang,G. and Lu,H.
  TITLE     Genetic associations in CHAT and COL11A1 with primary angle-closure
            glaucoma susceptibility: A systematic review and meta-analysis
  JOURNAL   Indian J Ophthalmol 71 (2), 343-349 (2023)
   PUBMED   36727317
  REMARK    GeneRIF: Genetic associations in CHAT and COL11A1 with primary
            angle-closure glaucoma susceptibility: A systematic review and
            meta-analysis.
REFERENCE   3  (bases 1 to 5296)
  AUTHORS   Kimura,N., Shiga,K., Kaneko,K.I., Oki,Y., Sugisawa,C., Saito,J.,
            Tawara,S., Akahori,H., Sogabe,S., Yamashita,T., Takekoshi,K.,
            Naruse,M. and Katabami,T.
  TITLE     Immunohistochemical Expression of Choline Acetyltransferase and
            Catecholamine-Synthesizing Enzymes in Head-and-Neck and
            Thoracoabdominal Paragangliomas and Pheochromocytomas
  JOURNAL   Endocr Pathol 32 (4), 442-451 (2021)
   PUBMED   34743284
  REMARK    GeneRIF: Immunohistochemical Expression of Choline
            Acetyltransferase and Catecholamine-Synthesizing Enzymes in
            Head-and-Neck and Thoracoabdominal Paragangliomas and
            Pheochromocytomas.
REFERENCE   4  (bases 1 to 5296)
  AUTHORS   Misawa,H., Matsuura,J., Oda,Y., Takahashi,R. and Deguchi,T.
  TITLE     Human choline acetyltransferase mRNAs with different 5'-region
            produce a 69-kDa major translation product
  JOURNAL   Brain Res Mol Brain Res 44 (2), 323-333 (1997)
   PUBMED   9073174
REFERENCE   5  (bases 1 to 5296)
  AUTHORS   Chireux,M.A., Le Van Thai,A. and Weber,M.J.
  TITLE     Human choline acetyltransferase gene: localization of alternative
            first exons
  JOURNAL   J Neurosci Res 40 (4), 427-438 (1995)
   PUBMED   7616604
REFERENCE   6  (bases 1 to 5296)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   7  (bases 1 to 5296)
  AUTHORS   Oda,Y., Nakanishi,I. and Deguchi,T.
  TITLE     A complementary DNA for human choline acetyltransferase induces two
            forms of enzyme with different molecular weights in cultured cells
  JOURNAL   Brain Res Mol Brain Res 16 (3-4), 287-294 (1992)
   PUBMED   1337937
REFERENCE   8  (bases 1 to 5296)
  AUTHORS   Misawa,H., Ishii,K. and Deguchi,T.
  TITLE     Gene expression of mouse choline acetyltransferase. Alternative
            splicing and identification of a highly active promoter region
  JOURNAL   J Biol Chem 267 (28), 20392-20399 (1992)
   PUBMED   1400357
REFERENCE   9  (bases 1 to 5296)
  AUTHORS   Lorenzi,M.V., Trinidad,A.C., Zhang,R. and Strauss,W.L.
  TITLE     Two mRNAs are transcribed from the human gene for choline
            acetyltransferase
  JOURNAL   DNA Cell Biol 11 (8), 593-603 (1992)
   PUBMED   1388731
REFERENCE   10 (bases 1 to 5296)
  AUTHORS   Toussaint,J.L., Geoffroy,V., Schmitt,M., Werner,A., Garnier,J.M.,
            Simoni,P. and Kempf,J.
  TITLE     Human choline acetyltransferase (CHAT): partial gene sequence and
            potential control regions
  JOURNAL   Genomics 12 (2), 412-416 (1992)
   PUBMED   1339386
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC073366.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 23, 2020 this sequence version replaced NM_020549.4.
            
            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 (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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF305907.1, S56138.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337653.7/ ENSP00000337103.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 5' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-439               AC073366.4         88925-89363         c
            440-540             AC073366.4         86798-86898         c
            541-732             AC073366.4         83484-83675         c
            733-851             AC073366.4         82787-82905         c
            852-905             AC073366.4         81250-81303         c
            906-1086            AC073366.4         77747-77927         c
            1087-1264           AC073366.4         75615-75792         c
            1265-1434           AC073366.4         56726-56895         c
            1435-1535           AC073366.4         54793-54893         c
            1536-1664           AC073366.4         53764-53892         c
            1665-1787           AC073366.4         51394-51516         c
            1788-1929           AC073366.4         48164-48305         c
            1930-1992           AC073366.4         47952-48014         c
            1993-2130           AC073366.4         40618-40755         c
            2131-5296           AC073366.4         35458-38623         c
FEATURES             Location/Qualifiers
     source          1..5296
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..5296
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /note="choline O-acetyltransferase"
                     /db_xref="GeneID:1103"
                     /db_xref="HGNC:HGNC:1912"
                     /db_xref="MIM:118490"
     exon            1..439
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..2400
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /EC_number="2.3.1.6"
                     /note="isoform 2 is encoded by transcript variant M;
                     acetyl CoA:choline O-acetyltransferase; choline acetylase"
                     /codon_start=1
                     /product="choline O-acetyltransferase isoform 2"
                     /protein_id="NP_065574.4"
                     /db_xref="CCDS:CCDS7232.1"
                     /db_xref="GeneID:1103"
                     /db_xref="HGNC:HGNC:1912"
                     /db_xref="MIM:118490"
                     /translation="MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGD
                     PGDVGGPAGNPGCSPHPRAATRPPPLPAHTPAHTPEWCGAASAEAAEPRRAGPHLCIP
                     APGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQQTLATYLQCMRHLVSEEQFR
                     KSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLALPVNSSPAV
                     IFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGL
                     FSSYRLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLR
                     KIVKMASNEDERLPPIGLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDA
                     PGGVELSDTHRALQLLHGGGYSKNGANRWYDKSLQFVVGRDGTCGVVCEHSPFDGIVL
                     VQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPEIQGHLASSAEKLQRIVKN
                     LDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIRRFQEGR
                     VDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHL
                     LALRELARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACY
                     NPQPETILFCISSFHSCKETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKAT
                     RPSQGHQP"
     exon            440..540
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            541..732
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            733..851
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            852..905
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1086
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1264
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1434
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1535
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1664
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..1787
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1929
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1930..1992
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1993..2130
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     exon            2131..5296
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5275..5280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /note="hexamer: AATAAA"
     polyA_site      5296
                     /gene="CHAT"
                     /gene_synonym="CHOACTASE; CMS1A; CMS1A2; CMS6"
                     /note="major polyA site"
ORIGIN      
        1 aaatgctgag ctaggggcag gaggcatggg cgggacagtg ttctgtgccc ccttctagag
       61 cctaaatttg ttgcccgagt tcctccggga agcgctccgg gtagattctg ggggccggga
      121 gctgagatcc ctgggcgggg agctggggaa gggatggggc tgaggacagc gaagaagagg
      181 gggcttgggg gaggggggaa atggaagaga gaggagggag gaggtacaag aggaaggaga
      241 gaagtgcggc cagcttgctt tctccagtcg ggtggccgcg gggacccggg cgacgtcgga
      301 ggccctgccg ggaacccagg ctgcagcccc cacccccgcg ctgcgacacg ccccccaccc
      361 cttccggctc acacccccgc ccacactcct gagtggtgcg gtgcagcgtc ggccgaggca
      421 gcagagccga ggagagcagg tccacacctc tgcatccctg caccaggact caccaagacg
      481 cccatcctgg aaaaggtccc ccgtaagatg gcagcaaaaa ctcccagcag tgaggagtct
      541 gggctgccca aactgcccgt gcccccgctg cagcagaccc tggccacgta cctgcagtgc
      601 atgcgacact tggtgtctga ggagcagttc aggaagagcc aggccattgt gcagcagttt
      661 ggggcccctg gtggcctcgg cgagaccctg cagcagaaac tcctggagcg gcaggagaag
      721 acagccaact gggtgtctga gtactggctg aatgacatgt atctcaacaa ccgcctggcc
      781 ctgcctgtca actccagccc tgccgtgatc tttgctcggc agcacttccc tggcaccgat
      841 gaccagctga ggtttgcagc cagcctcatc tctggtgtac tcagctacaa ggccctgctg
      901 gacagccact ccattcccac tgactgtgcc aaaggccagc tgtcagggca gcccctttgc
      961 atgaagcaat actatgggct cttctcctcc taccggctcc ccggccatac ccaggacacg
     1021 ctggtggctc agaacagcag catcatgccg gagcctgagc acgtcatcgt agcctgctgc
     1081 aatcagttct ttgtcttgga tgttgtcatt aatttccgcc gtctcagtga gggggatctg
     1141 ttcactcagt tgagaaagat agtcaaaatg gcttccaacg aggacgagcg tttgcctcca
     1201 attggcctgc tgacgtctga cgggaggagc gagtgggccg aggccaggac ggtcctcgtg
     1261 aaagactcca ccaaccggga ctcgctggac atgattgagc gctgcatctg ccttgtatgc
     1321 ctggacgcgc caggaggcgt ggagctcagc gacacccaca gggcactcca gctccttcac
     1381 ggcggaggct acagcaagaa cggggccaat cgctggtacg acaagtccct gcagtttgtg
     1441 gtgggccgag acggcacctg cggtgtggtg tgcgaacact ccccattcga tggcatcgtc
     1501 ctggtgcagt gcactgagca tctgctcaag cacgtgacgc agagcagcag gaagctgatc
     1561 cgagcagact ccgtcagcga gctccccgcc ccccggaggc tgcggtggaa atgctccccg
     1621 gaaattcaag gccacttagc ctcctcggca gaaaaacttc aacgaatagt aaagaacctt
     1681 gacttcattg tctataagtt tgacaactat gggaaaacat tcattaagaa gcagaaatgc
     1741 agccctgatg ccttcatcca ggtggccctc cagctggcct tctacaggct ccatcgaaga
     1801 ctggtgccca cctacgagag cgcgtccatc cgccgattcc aggagggacg cgtggacaac
     1861 atcagatcgg ccactccaga ggcactggct tttgtgagag ccgtgactga ccacaaggct
     1921 gctgtgccag cttctgagaa gcttctgctc ctgaaggatg ccatccgtgc ccagactgca
     1981 tacacagtca tggccataac agggatggcc attgacaacc acctgctggc actgcgggag
     2041 ctggcccggg ccatgtgcaa ggagctgccc gagatgttca tggatgaaac ctacctgatg
     2101 agcaaccggt ttgtcctctc cactagccag gtgcccacaa ccacggagat gttctgctgc
     2161 tatggtcctg tggtcccaaa tgggtatggt gcctgctaca acccccagcc agagaccatc
     2221 cttttctgca tctctagctt tcacagctgc aaagagactt cttctagcaa gtttgcaaaa
     2281 gctgtggaag aaagcctcat tgacatgaga gacctctgca gtctgctgcc gcctactgag
     2341 agcaagccat tggcaacaaa ggaaaaagcc acgaggccca gccagggaca ccaaccttga
     2401 ctcctgccac taggtttcac ctcccaaacc cagcctctag aacagccaga ccctgcagat
     2461 ccccactccc gtcccttacc ccagctttcc acagctccct gtcctcaggg tccaactcac
     2521 agaccataca gagacatcac acagagccgg agtgttagga ggaaagggtc ccctcttcat
     2581 gcatgggaat catcattttc aaggtggctt tgggcctgca cactgggaaa tgggacctgc
     2641 ctggctcaga ggcagcctgg atgcactggg gaaccacact aaggactcct tctgtggtcc
     2701 ttggaagctt agtgttcatg tctccttccc tagcaggacc tagtatgtcc aggtgatgct
     2761 tctgcccaag gaaaggatga gtcactctat tacatgcaac gtacctaatg agttaggaag
     2821 gaagaggcta actccaggtc attacctctt ttcttttttg ggggagagga ggctgtgttt
     2881 tgagattcag agcattctta tcgtggcatt cccagtgtct ccactgagcc gtacagtcct
     2941 acaagcaccc actcctccca cacacaccac agagcccaag tccatttaaa atatagtgac
     3001 ttgggcccac aaacacattt ctgctttcgt gcccaggggc agccttctgt tgagctcaga
     3061 aaattgtgtc cagctattct gaaaggaaaa aaaaatttat ctgtgactgc cctggagttg
     3121 ctgccactct ctgcttagca ggcggcatca gggccagtcc aagatgagta aactgcacag
     3181 ccccaagcag atggtgcctg gtgccggtgg gtttgcagag gacctggccc cttcccgggg
     3241 tcctgccatt tgcatttttt ctgcatcttt tcccctctcc tcccctccta catgctccag
     3301 taggtgaaga gagatggtta ctttgggttt ttccattatc tgttttgttt taagacagag
     3361 atttttaaga aaaccaccct gacattaatt tcagaaattc ttagtgattc aagcaggacc
     3421 cttaggcagc tgggctcctt tatttggagc aggctatcca gggactctga caaaaaccca
     3481 tgtggtagag cctagagcag ggctctcttc tggcctcagg gacttagggg acagctggca
     3541 gggagcaggg ctgggaggag ggcacagcct cctccagagt cagccccagc cccagcccca
     3601 gctccagctc cagccccagc tccagctcca gccccagctc cagctccagc atgggcagga
     3661 caggcaggtc agcagaggca gagttgagat gtctccagag actgtgatca taggagagac
     3721 acaagaggca cttcctatta gagcacattt ttatgggaag tctaaagggc agagggaggg
     3781 agtaagaaag caaccagaga aatctacagc atagagcccg tgtgttctgc tccacatccc
     3841 tccaatcctg ctgcttcctg ctgagcactc tgctctagcc cagcaatcct gtaggtctcc
     3901 cttctttgtg ccactgtgaa ggctctccac acttcgacct ggactgtcac aggctggcag
     3961 aggtggggtg ggcatttgac ctttgctcag ctctttgaaa acacaagcag cctcaagaag
     4021 tgagttcctt gaacccctgg ttttagatgg aggatctcta ttagatgtca tgggagattt
     4081 gggcactacc ctttgaacat acaaacttaa gtcattggcc tgagatttat gctccttccc
     4141 tcccacggcc accttcctac tctgcttagg aagttgcagc acaagggtcc tgggttttct
     4201 ggggaaaggc agcccacctg ctgtaagttg gcccaaagct acttgtctgt tctctccaag
     4261 tgaccacagt gcagatctga gttctcctcc ggttcctttc cctccatgga tttctgcgca
     4321 gacatagagc tccagctatg gggccaggca gccccaccaa cctcggccaa atgacatgca
     4381 tgcccagaga cgcagttcct tccactgtca aatgagaaca agagtgtccc cacttgcaag
     4441 actatgagga ttggagagca tgtgtgtcaa ggaccttgct gggtcaacaa ttcatttgcc
     4501 tttgtctgga gtctgccagc agcagtagct aatgtctaaa agacacaggg gccaggagag
     4561 aaaagggagg aaagaactaa gtctctccta gtctatggca tgctatcatg gggtcaagta
     4621 ggggcaggga ggcttcatgg ggcctacctt tgggatgaca ttaccccagt gggcattgtt
     4681 tgggtggttt tcttttaaac tatttacact gatatgacag actcaaactc atatttgcta
     4741 ttctccgagc acatggaaag gtaactcact ctgtacattc agatatcaaa ctatgcactg
     4801 tgagggctat gagaagcgca aacagtaaac gcttggcagg agggaacact tcctctctct
     4861 gaggaagagg ctggaagctg gtcttccccc tccaagaata cacgggtgca ctgagtcttt
     4921 atgcaaaggc aacactgagc catggccaag ggcatctctg cggggaccct gggaaaggag
     4981 cctgctccag gtgtccccaa agagatggaa aacaagacag tcatttggaa cagtgatgca
     5041 taataaaatg tatgtggcca ccttacaata ctgctaagtt gctaaaatat ataaagttaa
     5101 tatttgagtt ctatttttat aaaatagttc tagatttatg gcaatataaa cgtgtatagc
     5161 cttttgattt taatttctag ttttgtgctt tgaagaaata tatgtaagat taaagaactg
     5221 tatattgtaa gcattatatt caaattattt aaaaattgtt ctaagtctat attcaataaa
     5281 aagtaatgcc aagaaa
//
