LOCUS       NM_001367915            2175 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens acetylcholinesterase (Yt blood group) (ACHE),
            transcript variant 6, mRNA.
ACCESSION   NM_001367915 XM_024446769
VERSION     NM_001367915.1
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 2175)
  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 2175)
  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 2175)
  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 2175)
  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 2175)
  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 2175)
  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 2175)
  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 2175)
  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 2175)
  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 2175)
  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_024446769.1.
            
            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 :: SRR3476690.323362.1,
                                           SRR3476690.560443.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-87                AC011895.4         137934-138020       c
            88-1178             AC011895.4         135297-136387       c
            1179-1663           AC011895.4         134466-134950       c
            1664-1833           AC011895.4         133301-133470       c
            1834-2175           AC011895.4         132126-132467       c
FEATURES             Location/Qualifiers
     source          1..2175
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..2175
                     /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..1178
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1955
                     /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 6; Yt blood group; apoptosis-related
                     acetylcholinesterase; acetylcholinesterase (Cartwright
                     blood group)"
                     /codon_start=1
                     /product="acetylcholinesterase isoform E4-E6 precursor"
                     /protein_id="NP_001354844.1"
                     /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            1179..1663
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1833
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     exon            1834..2175
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2158..2163
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="hexamer: AATAAA"
     polyA_site      2175
                     /gene="ACHE"
                     /gene_synonym="ACEE; ARACHE; N-ACHE; YT"
                     /note="major polyA site"
ORIGIN      
        1 gtcagagtcg gctcagcctg cgccggggaa catcggccgc ctccagctcc cggcgcggcc
       61 cggcccggcc cggctcggcc gcctcagcag acgccgcctg ccctgcagcc atgaggcccc
      121 cgcagtgtct gctgcacacg ccttccctgg cttccccact ccttctcctc ctcctctggc
      181 tcctgggtgg aggagtgggg gctgagggcc gggaggatgc agagctgctg gtgacggtgc
      241 gtgggggccg gctgcggggc attcgcctga agacccccgg gggccctgtc tctgctttcc
      301 tgggcatccc ctttgcggag ccacccatgg gaccccgtcg ctttctgcca ccggagccca
      361 agcagccttg gtcaggggtg gtagacgcta caaccttcca gagtgtctgc taccaatatg
      421 tggacaccct atacccaggt tttgagggca ccgagatgtg gaaccccaac cgtgagctga
      481 gcgaggactg cctgtacctc aacgtgtgga caccataccc ccggcctaca tcccccaccc
      541 ctgtcctcgt ctggatctat gggggtggct tctacagtgg ggcctcctcc ttggacgtgt
      601 acgatggccg cttcttggta caggccgaga ggactgtgct ggtgtccatg aactaccggg
      661 tgggagcctt tggcttcctg gccctgccgg ggagccgaga ggccccgggc aatgtgggtc
      721 tcctggatca gaggctggcc ctgcagtggg tgcaggagaa cgtggcagcc ttcgggggtg
      781 acccgacatc agtgacgctg tttggggaga gcgcgggagc cgcctcggtg ggcatgcacc
      841 tgctgtcccc gcccagccgg ggcctgttcc acagggccgt gctgcagagc ggtgccccca
      901 atggaccctg ggccacggtg ggcatgggag aggcccgtcg cagggccacg cagctggccc
      961 accttgtggg ctgtcctcca ggcggcactg gtgggaatga cacagagctg gtagcctgcc
     1021 ttcggacacg accagcgcag gtcctggtga accacgaatg gcacgtgctg cctcaagaaa
     1081 gcgtcttccg gttctccttc gtgcctgtgg tagatggaga cttcctcagt gacaccccag
     1141 aggccctcat caacgcggga gacttccacg gcctgcaggt gctggtgggt gtggtgaagg
     1201 atgagggctc gtattttctg gtttacgggg ccccaggctt cagcaaagac aacgagtctc
     1261 tcatcagccg ggccgagttc ctggccgggg tgcgggtcgg ggttccccag gtaagtgacc
     1321 tggcagccga ggctgtggtc ctgcattaca cagactggct gcatcccgag gacccggcac
     1381 gcctgaggga ggccctgagc gatgtggtgg gcgaccacaa tgtcgtgtgc cccgtggccc
     1441 agctggctgg gcgactggct gcccagggtg cccgggtcta cgcctacgtc tttgaacacc
     1501 gtgcttccac gctctcctgg cccctgtgga tgggggtgcc ccacggctac gagatcgagt
     1561 tcatctttgg gatccccctg gacccctctc gaaactacac ggcagaggag aaaatcttcg
     1621 cccagcgact gatgcgatac tgggccaact ttgcccgcac aggggatccc aatgagcccc
     1681 gagaccccaa ggccccacaa tggcccccgt acacggcggg ggctcagcag tacgttagtc
     1741 tggacctgcg gccgctggag gtgcggcggg ggctgcgcgc ccaggcctgc gccttctgga
     1801 accgcttcct ccccaaattg ctcagcgcca ccgacacgct cgacgaggcg gagcgccagt
     1861 ggaaggccga gttccaccgc tggagctcct acatggtgca ctggaagaac cagttcgacc
     1921 actacagcaa gcaggatcgc tgctcagacc tgtgaccccg gcgggacccc catgtcctcc
     1981 gctccgcccg gccccctagc tgtatatact atttatttca gggctgggct ataacacaga
     2041 cgagccccag actctgccca tccccacccc accccgacgt cccccggggc tcccggtcct
     2101 ctgcatgtct caggctgagc tccctccccc gcggtgcctt cgcccctctg ggctgccaat
     2161 aaactgttac agcca
//
