LOCUS       NM_001367917            2159 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens acetylcholinesterase (Yt blood group) (ACHE),
            transcript variant 7, mRNA.
ACCESSION   NM_001367917 XM_024446770
VERSION     NM_001367917.1
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 2159)
  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 2159)
  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 2159)
  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 2159)
  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 2159)
  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 2159)
  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 2159)
  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 2159)
  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 2159)
  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 2159)
  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.
            
            On Dec 29, 2018 this sequence version replaced XM_024446770.1.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR3476690.1042626.1,
                                           SRR14372080.1299628.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-71                AC011895.4         136668-136738       c
            72-1162             AC011895.4         135297-136387       c
            1163-1647           AC011895.4         134466-134950       c
            1648-1817           AC011895.4         133301-133470       c
            1818-2159           AC011895.4         132126-132467       c
FEATURES             Location/Qualifiers
     source          1..2159
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2159
                     /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..71
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            72..1162
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..1939
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /EC_number="3.1.1.7"
                     /note="isoform E4-E6 precursor is encoded by transcript
                     variant 7; Yt blood group; apoptosis-related
                     acetylcholinesterase; acetylcholinesterase (Cartwright
                     blood group)"
                     /codon_start=1
                     /product="acetylcholinesterase isoform E4-E6 precursor"
                     /protein_id="NP_001354846.1"
                     /db_xref="CCDS:CCDS5709.1"
                     /db_xref="GeneID:43"
                     /db_xref="HGNC:HGNC:108"
                     /db_xref="MIM:100740"
                     /translation="MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVR
                     GGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQ
                     YVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASS
                     LDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENV
                     AAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEAR
                     RRATQLAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVV
                     DGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLA
                     GVRVGVPQVSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLA
                     AQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEEKIFAQRLM
                     RYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRF
                     LPKLLSATDTLDEAERQWKAEFHRWSSYMVHWKNQFDHYSKQDRCSDL"
     exon            1163..1647
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1817
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            1818..2159
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2142..2147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="hexamer: AATAAA"
     polyA_site      2159
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="major polyA site"
ORIGIN      
        1 ggcctgttcg tggactgagg cttctggtgc cctcactgca cgagctgggc ccggcccagt
       61 tccgggaaga gcagacgccg cctgccctgc agccatgagg cccccgcagt gtctgctgca
      121 cacgccttcc ctggcttccc cactccttct cctcctcctc tggctcctgg gtggaggagt
      181 gggggctgag ggccgggagg atgcagagct gctggtgacg gtgcgtgggg gccggctgcg
      241 gggcattcgc ctgaagaccc ccgggggccc tgtctctgct ttcctgggca tcccctttgc
      301 ggagccaccc atgggacccc gtcgctttct gccaccggag cccaagcagc cttggtcagg
      361 ggtggtagac gctacaacct tccagagtgt ctgctaccaa tatgtggaca ccctataccc
      421 aggttttgag ggcaccgaga tgtggaaccc caaccgtgag ctgagcgagg actgcctgta
      481 cctcaacgtg tggacaccat acccccggcc tacatccccc acccctgtcc tcgtctggat
      541 ctatgggggt ggcttctaca gtggggcctc ctccttggac gtgtacgatg gccgcttctt
      601 ggtacaggcc gagaggactg tgctggtgtc catgaactac cgggtgggag cctttggctt
      661 cctggccctg ccggggagcc gagaggcccc gggcaatgtg ggtctcctgg atcagaggct
      721 ggccctgcag tgggtgcagg agaacgtggc agccttcggg ggtgacccga catcagtgac
      781 gctgtttggg gagagcgcgg gagccgcctc ggtgggcatg cacctgctgt ccccgcccag
      841 ccggggcctg ttccacaggg ccgtgctgca gagcggtgcc cccaatggac cctgggccac
      901 ggtgggcatg ggagaggccc gtcgcagggc cacgcagctg gcccaccttg tgggctgtcc
      961 tccaggcggc actggtggga atgacacaga gctggtagcc tgccttcgga cacgaccagc
     1021 gcaggtcctg gtgaaccacg aatggcacgt gctgcctcaa gaaagcgtct tccggttctc
     1081 cttcgtgcct gtggtagatg gagacttcct cagtgacacc ccagaggccc tcatcaacgc
     1141 gggagacttc cacggcctgc aggtgctggt gggtgtggtg aaggatgagg gctcgtattt
     1201 tctggtttac ggggccccag gcttcagcaa agacaacgag tctctcatca gccgggccga
     1261 gttcctggcc ggggtgcggg tcggggttcc ccaggtaagt gacctggcag ccgaggctgt
     1321 ggtcctgcat tacacagact ggctgcatcc cgaggacccg gcacgcctga gggaggccct
     1381 gagcgatgtg gtgggcgacc acaatgtcgt gtgccccgtg gcccagctgg ctgggcgact
     1441 ggctgcccag ggtgcccggg tctacgccta cgtctttgaa caccgtgctt ccacgctctc
     1501 ctggcccctg tggatggggg tgccccacgg ctacgagatc gagttcatct ttgggatccc
     1561 cctggacccc tctcgaaact acacggcaga ggagaaaatc ttcgcccagc gactgatgcg
     1621 atactgggcc aactttgccc gcacagggga tcccaatgag ccccgagacc ccaaggcccc
     1681 acaatggccc ccgtacacgg cgggggctca gcagtacgtt agtctggacc tgcggccgct
     1741 ggaggtgcgg cgggggctgc gcgcccaggc ctgcgccttc tggaaccgct tcctccccaa
     1801 attgctcagc gccaccgaca cgctcgacga ggcggagcgc cagtggaagg ccgagttcca
     1861 ccgctggagc tcctacatgg tgcactggaa gaaccagttc gaccactaca gcaagcagga
     1921 tcgctgctca gacctgtgac cccggcggga cccccatgtc ctccgctccg cccggccccc
     1981 tagctgtata tactatttat ttcagggctg ggctataaca cagacgagcc ccagactctg
     2041 cccatcccca ccccaccccg acgtcccccg gggctcccgg tcctctgcat gtctcaggct
     2101 gagctccctc ccccgcggtg ccttcgcccc tctgggctgc caataaactg ttacagcca
//
