LOCUS       NM_001282449            1908 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens acetylcholinesterase (Yt blood group) (ACHE),
            transcript variant 3, mRNA.
ACCESSION   NM_001282449 XM_005250359
VERSION     NM_001282449.2
KEYWORDS    RefSeq.
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 1908)
  AUTHORS   Kongkaew,N., Hengphasatporn,K., Shigeta,Y., Rungrotmongkol,T. and
            Harada,R.
  TITLE     Preferential Door for Ligand Binding and Unbinding Pathways in
            Inhibited Human Acetylcholinesterase
  JOURNAL   J Phys Chem Lett 15 (21), 5696-5704 (2024)
   PUBMED   38768263
  REMARK    GeneRIF: Preferential Door for Ligand Binding and Unbinding
            Pathways in Inhibited Human Acetylcholinesterase.
REFERENCE   2  (bases 1 to 1908)
  AUTHORS   Chen,M., Zhang,C., Li,H., Zheng,S., Li,Y., Yuan,M., Chen,Y., Wu,J.
            and Sun,Q.
  TITLE     PLA2G4A and ACHE modulate lipid profiles via glycerophospholipid
            metabolism in platinum-resistant gastric cancer
  JOURNAL   J Transl Med 22 (1), 249 (2024)
   PUBMED   38454407
  REMARK    GeneRIF: PLA2G4A and ACHE modulate lipid profiles via
            glycerophospholipid metabolism in platinum-resistant gastric
            cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1908)
  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   4  (bases 1 to 1908)
  AUTHORS   Budhbhatti,U., Chauhan,A., Bhatt,D., Parmar,C., Damani,V., Patel,A.
            and Joshi,C.
  TITLE     Association of NOTCH4 and ACHE gene polymorphism in Alzheimer's
            disease of Gujarat cohort
  JOURNAL   Neurosci Lett 814, 137428 (2023)
   PUBMED   37544578
  REMARK    GeneRIF: Association of NOTCH4 and ACHE gene polymorphism in
            Alzheimer's disease of Gujarat cohort.
REFERENCE   5  (bases 1 to 1908)
  AUTHORS   Ohno,K., Brengman,J., Tsujino,A. and Engel,A.G.
  TITLE     Human endplate acetylcholinesterase deficiency caused by mutations
            in the collagen-like tail subunit (ColQ) of the asymmetric enzyme
  JOURNAL   Proc Natl Acad Sci U S A 95 (16), 9654-9659 (1998)
   PUBMED   9689136
REFERENCE   6  (bases 1 to 1908)
  AUTHORS   Bartels,C.F., Zelinski,T. and Lockridge,O.
  TITLE     Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene
            accounts for YT blood group polymorphism
  JOURNAL   Am J Hum Genet 52 (5), 928-936 (1993)
   PUBMED   8488842
REFERENCE   7  (bases 1 to 1908)
  AUTHORS   Spring,F.A., Gardner,B. and Anstee,D.J.
  TITLE     Evidence that the antigens of the Yt blood group system are located
            on human erythrocyte acetylcholinesterase
  JOURNAL   Blood 80 (8), 2136-2141 (1992)
   PUBMED   1391965
REFERENCE   8  (bases 1 to 1908)
  AUTHORS   Shafferman,A., Kronman,C., Flashner,Y., Leitner,M., Grosfeld,H.,
            Ordentlich,A., Gozes,Y., Cohen,S., Ariel,N., Barak,D. et al.
  TITLE     Mutagenesis of human acetylcholinesterase. Identification of
            residues involved in catalytic activity and in polypeptide folding
  JOURNAL   J Biol Chem 267 (25), 17640-17648 (1992)
   PUBMED   1517212
REFERENCE   9  (bases 1 to 1908)
  AUTHORS   Ehrlich,G., Viegas-Pequignot,E., Ginzberg,D., Sindel,L., Soreq,H.
            and Zakut,H.
  TITLE     Mapping the human acetylcholinesterase gene to chromosome 7q22 by
            fluorescent in situ hybridization coupled with selective PCR
            amplification from a somatic hybrid cell panel and
            chromosome-sorted DNA libraries
  JOURNAL   Genomics 13 (4), 1192-1197 (1992)
   PUBMED   1380483
REFERENCE   10 (bases 1 to 1908)
  AUTHORS   Getman,D.K., Eubanks,J.H., Camp,S., Evans,G.A. and Taylor,P.
  TITLE     The human gene encoding acetylcholinesterase is located on the long
            arm of chromosome 7
  JOURNAL   Am J Hum Genet 51 (1), 170-177 (1992)
   PUBMED   1609795
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011895.4, AF334270.1 and
            AK223443.1.
            
            On Dec 29, 2018 this sequence version replaced NM_001282449.1.
            
            Summary: Acetylcholinesterase hydrolyzes the neurotransmitter,
            acetylcholine at neuromuscular junctions and brain cholinergic
            synapses, and thus terminates signal transmission. It is also found
            on the red blood cell membranes, where it constitutes the Yt blood
            group antigen. Acetylcholinesterase exists in multiple molecular
            forms which possess similar catalytic properties, but differ in
            their oligomeric assembly and mode of cell attachment to the cell
            surface. It is encoded by the single ACHE gene, and the structural
            diversity in the gene products arises from alternative mRNA
            splicing, and post-translational associations of catalytic and
            structural subunits. The major form of acetylcholinesterase found
            in brain, muscle and other tissues is the hydrophilic species,
            which forms disulfide-linked oligomers with collagenous, or
            lipid-containing structural subunits. The other, alternatively
            spliced form, expressed primarily in the erythroid tissues, differs
            at the C-terminal end, and contains a cleavable hydrophobic peptide
            with a GPI-anchor site. It associates with the membranes through
            the phosphoinositide (PI) moieties added post-translationally. AChE
            activity may constitute a sensitive biomarker of RBC ageing in
            vivo, and thus, may be of aid in understanding the effects of
            transfusion[provided by RefSeq, Sep 2019].
            
            Transcript Variant: This variant (3) uses an alternate splice
            acceptor site compared to variant E4-E6. The encoded isoform (3) is
            shorter than isoform E4-E6.
            
            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 :: AF334270.1, ERR4352443.374953.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC011895.4         138019-138020       c
            3-1836              AF334270.1         1-1834
            1837-1908           AK223443.1         2098-2169
FEATURES             Location/Qualifiers
     source          1..1908
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..1908
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="acetylcholinesterase (Yt blood group)"
                     /db_xref="GeneID:43"
                     /db_xref="HGNC:HGNC:108"
                     /db_xref="MIM:100740"
     exon            1..87
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            88..1175
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1688
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /EC_number="3.1.1.7"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; Yt blood group; apoptosis-related
                     acetylcholinesterase; acetylcholinesterase (Cartwright
                     blood group)"
                     /codon_start=1
                     /product="acetylcholinesterase isoform 3 precursor"
                     /protein_id="NP_001269378.1"
                     /db_xref="CCDS:CCDS64736.1"
                     /db_xref="GeneID:43"
                     /db_xref="HGNC:HGNC:108"
                     /db_xref="MIM:100740"
                     /translation="MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVR
                     GGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQ
                     YVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASS
                     LDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENV
                     AAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEAR
                     RRATQLAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVV
                     DGDFLSDTPEALINAGDFHGLQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGY
                     EIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGA
                     QQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDTLDEAERQWKAEFHRWSSYMV
                     HWKNQFDHYSKQDRCSDL"
     exon            1176..1396
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1566
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1908
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1891..1896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="major polyA site"
ORIGIN      
        1 gtcagagtcg gctcagcctg cgccggggaa catcggccgc ctccagctcc cggcgcggcc
       61 cggcccggcc cggctcggcc gcctcagacg ccgcctgccc tgcagccatg aggcccccgc
      121 agtgtctgct gcacacgcct tccctggctt ccccactcct tctcctcctc ctctggctcc
      181 tgggtggagg agtgggggct gagggccggg aggatgcaga gctgctggtg acggtgcgtg
      241 ggggccggct gcggggcatt cgcctgaaga cccccggggg ccctgtctct gctttcctgg
      301 gcatcccctt tgcggagcca cccatgggac cccgtcgctt tctgccaccg gagcccaagc
      361 agccttggtc aggggtggta gacgctacaa ccttccagag tgtctgctac caatatgtgg
      421 acaccctata cccaggtttt gagggcaccg agatgtggaa ccccaaccgt gagctgagcg
      481 aggactgcct gtacctcaac gtgtggacac catacccccg gcctacatcc cccacccctg
      541 tcctcgtctg gatctatggg ggtggcttct acagtggggc ctcctccttg gacgtgtacg
      601 atggccgctt cttggtacag gccgagagga ctgtgctggt gtccatgaac taccgggtgg
      661 gagcctttgg cttcctggcc ctgccgggga gccgagaggc cccgggcaat gtgggtctcc
      721 tggatcagag gctggccctg cagtgggtgc aggagaacgt ggcagccttc gggggtgacc
      781 cgacatcagt gacgctgttt ggggagagcg cgggagccgc ctcggtgggc atgcacctgc
      841 tgtccccgcc cagccggggc ctgttccaca gggccgtgct gcagagcggt gcccccaatg
      901 gaccctgggc cacggtgggc atgggagagg cccgtcgcag ggccacgcag ctggcccacc
      961 ttgtgggctg tcctccaggc ggcactggtg ggaatgacac agagctggta gcctgccttc
     1021 ggacacgacc agcgcaggtc ctggtgaacc acgaatggca cgtgctgcct caagaaagcg
     1081 tcttccggtt ctccttcgtg cctgtggtag atggagactt cctcagtgac accccagagg
     1141 ccctcatcaa cgcgggagac ttccacggcc tgcagctggc tgggcgactg gctgcccagg
     1201 gtgcccgggt ctacgcctac gtctttgaac accgtgcttc cacgctctcc tggcccctgt
     1261 ggatgggggt gccccacggc tacgagatcg agttcatctt tgggatcccc ctggacccct
     1321 ctcgaaacta cacggcagag gagaaaatct tcgcccagcg actgatgcga tactgggcca
     1381 actttgcccg cacaggggat cccaatgagc cccgagaccc caaggcccca caatggcccc
     1441 cgtacacggc gggggctcag cagtacgtta gtctggacct gcggccgctg gaggtgcggc
     1501 gggggctgcg cgcccaggcc tgcgccttct ggaaccgctt cctccccaaa ttgctcagcg
     1561 ccaccgacac gctcgacgag gcggagcgcc agtggaaggc cgagttccac cgctggagct
     1621 cctacatggt gcactggaag aaccagttcg accactacag caagcaggat cgctgctcag
     1681 acctgtgacc ccggcgggac ccccatgtcc tccgctccgc ccggccccct agctgtatat
     1741 actatttatt tcagggctgg gctataacac agacgagccc cagactctgc ccatccccac
     1801 cccaccccga cgtcccccgg ggctcccggt cctctgcatg tctcaggctg agctccctcc
     1861 cccgcggtgc cttcgcccct ctgggctgcc aataaactgt tacagcca
//
