LOCUS       NM_000055               2405 bp    mRNA    linear   PRI 02-MAY-2024
DEFINITION  Homo sapiens butyrylcholinesterase (BCHE), transcript variant 1,
            mRNA.
ACCESSION   NM_000055
VERSION     NM_000055.4
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 2405)
  AUTHORS   Lane,R.M., Darreh-Shori,T., Junge,C., Li,D., Yang,Q., Edwards,A.L.,
            Graham,D.L., Moore,K. and Mummery,C.J.
  TITLE     Onset of Alzheimer disease in apolipoprotein varepsilon4 carriers
            is earlier in butyrylcholinesterase K variant carriers
  JOURNAL   BMC Neurol 24 (1), 116 (2024)
   PUBMED   38594621
  REMARK    GeneRIF: Onset of Alzheimer disease in apolipoprotein varepsilon4
            carriers is earlier in butyrylcholinesterase K variant carriers.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2405)
  AUTHORS   Schlake,K., Teller,J., Hinken,L., Laser,H., Lichtinghagen,R.,
            Schafer,A., Fegbeutel,C., Weissenborn,K., Jung,C., Worthmann,H. and
            Gabriel,M.M.
  TITLE     Butyrylcholinesterase activity in patients with postoperative
            delirium after cardiothoracic surgery or percutaneous valve
            replacement- an observational interdisciplinary cohort study
  JOURNAL   BMC Neurol 24 (1), 80 (2024)
   PUBMED   38424490
  REMARK    GeneRIF: Butyrylcholinesterase activity in patients with
            postoperative delirium after cardiothoracic surgery or percutaneous
            valve replacement- an observational interdisciplinary cohort study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2405)
  AUTHORS   Wang,S., Huang,X., Zhao,S., Lv,J., Li,Y., Wang,S., Guo,J., Wang,Y.,
            Wang,R., Zhang,M. and Qiu,W.
  TITLE     Progressions of the correlation between lipid metabolism and immune
            infiltration characteristics in gastric cancer and identification
            of BCHE as a potential biomarker
  JOURNAL   Front Immunol 15, 1327565 (2024)
   PUBMED   38357546
  REMARK    GeneRIF: Progressions of the correlation between lipid metabolism
            and immune infiltration characteristics in gastric cancer and
            identification of BCHE as a potential biomarker.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2405)
  AUTHORS   Zheng,F., Hou,S., Xue,L., Yang,W. and Zhan,C.G.
  TITLE     Human Butyrylcholinesterase Mutants for (-)-Cocaine Hydrolysis: A
            Correlation Relationship between Catalytic Efficiency and Total
            Hydrogen Bonding Energy with an Oxyanion Hole
  JOURNAL   J Phys Chem B 127 (50), 10723-10729 (2023)
   PUBMED   38063500
  REMARK    GeneRIF: Human Butyrylcholinesterase Mutants for (-)-Cocaine
            Hydrolysis: A Correlation Relationship between Catalytic Efficiency
            and Total Hydrogen Bonding Energy with an Oxyanion Hole.
REFERENCE   5  (bases 1 to 2405)
  AUTHORS   Lockridge,O.
  TITLE     Review of human butyrylcholinesterase structure, function, genetic
            variants, history of use in the clinic, and potential therapeutic
            uses
  JOURNAL   Pharmacol Ther 148, 34-46 (2015)
   PUBMED   25448037
  REMARK    Review article
REFERENCE   6  (bases 1 to 2405)
  AUTHORS   Gaughan,G., Park,H., Priddle,J., Craig,I. and Craig,S.
  TITLE     Refinement of the localization of human butyrylcholinesterase to
            chromosome 3q26.1-q26.2 using a PCR-derived probe
  JOURNAL   Genomics 11 (2), 455-458 (1991)
   PUBMED   1769658
REFERENCE   7  (bases 1 to 2405)
  AUTHORS   Allderdice,P.W., Gardner,H.A., Galutira,D., Lockridge,O., LaDu,B.N.
            and McAlpine,P.J.
  TITLE     The cloned butyrylcholinesterase (BCHE) gene maps to a single
            chromosome site, 3q26
  JOURNAL   Genomics 11 (2), 452-454 (1991)
   PUBMED   1769657
REFERENCE   8  (bases 1 to 2405)
  AUTHORS   Masson,P., Chatonnet,A. and Lockridge,O.
  TITLE     Evidence for a single butyrylcholinesterase gene in individuals
            carrying the C5 plasma cholinesterase variant (CHE2)
  JOURNAL   FEBS Lett 262 (1), 115-118 (1990)
   PUBMED   2318303
REFERENCE   9  (bases 1 to 2405)
  AUTHORS   Arpagaus,M., Kott,M., Vatsis,K.P., Bartels,C.F., La Du,B.N. and
            Lockridge,O.
  TITLE     Structure of the gene for human butyrylcholinesterase. Evidence for
            a single copy
  JOURNAL   Biochemistry 29 (1), 124-131 (1990)
   PUBMED   2322535
REFERENCE   10 (bases 1 to 2405)
  AUTHORS   Lockridge,O., Bartels,C.F., Vaughan,T.A., Wong,C.K., Norton,S.E.
            and Johnson,L.L.
  TITLE     Complete amino acid sequence of human serum cholinesterase
  JOURNAL   J Biol Chem 262 (2), 549-557 (1987)
   PUBMED   3542989
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL706210.1, BC018141.1,
            BF056152.1 and BG460576.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000055.3.
            
            Summary: This gene encodes a cholinesterase enzyme and member of
            the type-B carboxylesterase/lipase family of proteins. The encoded
            enzyme exhibits broad substrate specificity and is involved in the
            detoxification of poisons including organophosphate nerve agents
            and pesticides, and the metabolism of drugs including cocaine,
            heroin and aspirin. Humans homozygous for certain mutations in this
            gene exhibit prolonged apnea after administration of the muscle
            relaxant succinylcholine. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) encodes the protein.
            
            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 :: M16474.1, M16541.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:3542989)
            MANE Ensembl match               :: ENST00000264381.8/
                                                ENSP00000264381.3
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AL706210.1         51-61
            12-2115             BC018141.1         1-2104
            2116-2220           BF056152.1         201-305             c
            2221-2391           BF056152.1         29-199              c
            2392-2405           BG460576.1         751-764
FEATURES             Location/Qualifiers
     source          1..2405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..2405
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="butyrylcholinesterase"
                     /db_xref="GeneID:590"
                     /db_xref="HGNC:HGNC:983"
                     /db_xref="MIM:177400"
     exon            1..110
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /inference="alignment:Splign:2.1.0"
     exon            111..1635
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..1927
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /EC_number="3.1.1.8"
                     /note="cholinesterase 1; choline esterase II;
                     pseudocholinesterase; butyrylcholine esterase; acylcholine
                     acylhydrolase; cholinesterase (serum) 2"
                     /codon_start=1
                     /product="cholinesterase precursor"
                     /protein_id="NP_000046.1"
                     /db_xref="CCDS:CCDS3198.1"
                     /db_xref="GeneID:590"
                     /db_xref="HGNC:HGNC:983"
                     /db_xref="MIM:177400"
                     /translation="MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGM
                     NLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKWSDIWNATKYANSCCQNIDQSFP
                     GFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKF
                     LARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPK
                     SVTLFGESAGAASVSLHLLSPGSHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAK
                     LTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGPTVDGDFLTDMPDIL
                     LELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEF
                     GKESILFHYTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFE
                     HRSSKLPWPEWMGVMHGYEIEFVFGLPLERRDNYTKAEEILSRSIVKRWANFAKYGNP
                     NETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEMTGNIDE
                     AEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCVGL"
     exon            1636..1802
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /inference="alignment:Splign:2.1.0"
     exon            1803..2405
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2204..2209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="hexamer: AATAAA"
     polyA_site      2230
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
     regulatory      2383..2388
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="hexamer: ATTAAA"
     polyA_site      2405
                     /gene="BCHE"
                     /gene_synonym="BCHED; CHE1; CHE2; E1"
                     /note="major polyA site"
ORIGIN      
        1 agtgcagtcc aatttacagg ctggagcagc agctgcatcc tgcatttccc cgaagtatta
       61 catgattttc actccttgca aactttgcca tctttgttgc agagaatcgg aaatcaatat
      121 gcatagcaaa gtcacaatca tatgcatcag atttctcttt tggtttcttt tgctctgcat
      181 gcttattggg aagtcacata ctgaagatga catcataatt gcaacaaaga atggaaaagt
      241 cagagggatg aacttgacag tttttggtgg cacggtaaca gcctttcttg gaattcccta
      301 tgcacagcca cctcttggta gacttcgatt caaaaagcca cagtctctga ccaagtggtc
      361 tgatatttgg aatgccacaa aatatgcaaa ttcttgctgt cagaacatag atcaaagttt
      421 tccaggcttc catggatcag agatgtggaa cccaaacact gacctcagtg aagactgttt
      481 atatctaaat gtatggattc cagcacctaa accaaaaaat gccactgtat tgatatggat
      541 ttatggtggt ggttttcaaa ctggaacatc atctttacat gtttatgatg gcaagtttct
      601 ggctcgggtt gaaagagtta ttgtagtgtc aatgaactat agggtgggtg ccctaggatt
      661 cttagctttg ccaggaaatc ctgaggctcc agggaacatg ggtttatttg atcaacagtt
      721 ggctcttcag tgggttcaaa aaaatatagc agcctttggt ggaaatccta aaagtgtaac
      781 tctctttgga gaaagtgcag gagcagcttc agttagcctg catttgcttt ctcctggaag
      841 ccattcattg ttcaccagag ccattctgca aagtggatcc tttaatgctc cttgggcggt
      901 aacatctctt tatgaagcta ggaacagaac gttgaactta gctaaattga ctggttgctc
      961 tagagagaat gagactgaaa taatcaagtg tcttagaaat aaagatcccc aagaaattct
     1021 tctgaatgaa gcatttgttg tcccctatgg gactcctttg tcagtaaact ttggtccgac
     1081 cgtggatggt gattttctca ctgacatgcc agacatatta cttgaacttg gacaatttaa
     1141 aaaaacccag attttggtgg gtgttaataa agatgaaggg acagcttttt tagtctatgg
     1201 tgctcctggc ttcagcaaag ataacaatag tatcataact agaaaagaat ttcaggaagg
     1261 tttaaaaata ttttttccag gagtgagtga gtttggaaag gaatccatcc tttttcatta
     1321 cacagactgg gtagatgatc agagacctga aaactaccgt gaggccttgg gtgatgttgt
     1381 tggggattat aatttcatat gccctgcctt ggagttcacc aagaagttct cagaatgggg
     1441 aaataatgcc tttttctact attttgaaca ccgatcctcc aaacttccgt ggccagaatg
     1501 gatgggagtg atgcatggct atgaaattga atttgtcttt ggtttacctc tggaaagaag
     1561 agataattac acaaaagccg aggaaatttt gagtagatcc atagtgaaac ggtgggcaaa
     1621 ttttgcaaaa tatgggaatc caaatgagac tcagaacaat agcacaagct ggcctgtctt
     1681 caaaagcact gaacaaaaat atctaacctt gaatacagag tcaacaagaa taatgacgaa
     1741 actacgtgct caacaatgtc gattctggac atcatttttt ccaaaagtct tggaaatgac
     1801 aggaaatatt gatgaagcag aatgggagtg gaaagcagga ttccatcgct ggaacaatta
     1861 catgatggac tggaaaaatc aatttaacga ttacactagc aagaaagaaa gttgtgtggg
     1921 tctctaatta atagatttac cctttataga acatattttc ctttagatca aggcaaaaat
     1981 atcaggagct tttttacaca cctactaaaa aagttattat gtagctgaaa caaaaatgcc
     2041 agaaggataa tattgattcc tcacatcttt aacttagtat tttacctagc atttcaaaac
     2101 ccaaatggct agaacgtgtt taattaaatt tcacaatata aagttctaca gttaattatg
     2161 tgcatattaa aacaatggcc tggttcaatt tctttctttc cttaataaat ttaagttttt
     2221 ccccccaaaa ttatcagtgc tctgctttta gtcacgtgta ttttcattac cactcgtaaa
     2281 aaggtatctt ttttaaatga attaaatatt gaaacactgt acaccatagt ttacaatatt
     2341 atgtttccta attaaaataa gaattgaatg tcaatatgag atattaaaat aagcacagaa
     2401 aatca
//
