LOCUS       NM_001025195            1946 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens carboxylesterase 1 (CES1), transcript variant 1, mRNA.
ACCESSION   NM_001025195
VERSION     NM_001025195.2
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 1946)
  AUTHORS   Hussain,M., Basheer,S., Khalil,A., Haider,Q.U.A., Saeed,H. and
            Faizan,M.
  TITLE     Pharmacogenetic study of CES1 gene and enalapril efficacy
  JOURNAL   J Appl Genet 65 (3), 463-471 (2024)
   PUBMED   38261266
  REMARK    GeneRIF: Pharmacogenetic study of CES1 gene and enalapril efficacy.
            Review article
REFERENCE   2  (bases 1 to 1946)
  AUTHORS   Westerkamp,A.C., Pereira,R.R., Huitema,V.R., Kouwert,E.A.M.,
            Matic,M., van Schaik,R.H.N., Punt,N., Schoevers,R.A. and Touw,D.J.
  TITLE     High-Dose Methylphenidate and Carboxylesterase 1 Genetic
            Variability in Patients With Attention-Deficit/Hyperactivity
            Disorder: A Case Series
  JOURNAL   J Clin Psychopharmacol 44 (1), 35-38 (2024)
   PUBMED   37851403
  REMARK    GeneRIF: High-Dose Methylphenidate and Carboxylesterase 1 Genetic
            Variability in Patients With Attention-Deficit/Hyperactivity
            Disorder: A Case Series.
REFERENCE   3  (bases 1 to 1946)
  AUTHORS   Abdrakhmanov,A., Akilzhanova,A., Shaimerdinova,A., Zhalbinova,M.,
            Tuyakova,G., Abildinova,S., Albayev,R., Ainabekova,B.,
            Chinybayeva,A., Suleimen,Z. and Bekbossynova,M.
  TITLE     The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms
            in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC
  JOURNAL   Genes (Basel) 14 (6), 1192 (2023)
   PUBMED   37372371
  REMARK    GeneRIF: The Distribution of the Genotypes of ABCB1 and CES1
            Polymorphisms in Kazakhstani Patients with Atrial Fibrillation
            Treated with DOAC.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1946)
  AUTHORS   Her,L., Shi,J., Wang,X., He,B., Smith,L.S., Jiang,H. and Zhu,H.J.
  TITLE     Identification of regulatory variants of carboxylesterase 1 (CES1):
            A proof-of-concept study for the application of the Allele-Specific
            Protein Expression (ASPE) assay in identifying cis-acting
            regulatory genetic polymorphisms
  JOURNAL   Proteomics 23 (1), e2200176 (2023)
   PUBMED   36413357
  REMARK    GeneRIF: Identification of regulatory variants of carboxylesterase
            1 (CES1): A proof-of-concept study for the application of the
            Allele-Specific Protein Expression (ASPE) assay in identifying
            cis-acting regulatory genetic polymorphisms.
REFERENCE   5  (bases 1 to 1946)
  AUTHORS   Ikonnikova,A., Kazakov,R., Rodina,T., Dmitriev,A., Melnikov,E.,
            Zasedatelev,A. and Nasedkina,T.
  TITLE     The Influence of Structural Variants of the CES1 Gene on the
            Pharmacokinetics of Enalapril, Presumably Due to Linkage
            Disequilibrium with the Intronic rs2244613
  JOURNAL   Genes (Basel) 13 (12), 2225 (2022)
   PUBMED   36553492
  REMARK    GeneRIF: The Influence of Structural Variants of the CES1 Gene on
            the Pharmacokinetics of Enalapril, Presumably Due to Linkage
            Disequilibrium with the Intronic rs2244613.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1946)
  AUTHORS   Riddles,P.W., Richards,L.J., Bowles,M.R. and Pond,S.M.
  TITLE     Cloning and analysis of a cDNA encoding a human liver
            carboxylesterase
  JOURNAL   Gene 108 (2), 289-292 (1991)
   PUBMED   1748313
REFERENCE   7  (bases 1 to 1946)
  AUTHORS   Munger,J.S., Shi,G.P., Mark,E.A., Chin,D.T., Gerard,C. and
            Chapman,H.A.
  TITLE     A serine esterase released by human alveolar macrophages is closely
            related to liver microsomal carboxylesterases
  JOURNAL   J Biol Chem 266 (28), 18832-18838 (1991)
   PUBMED   1918003
REFERENCE   8  (bases 1 to 1946)
  AUTHORS   Zschunke,F., Salmassi,A., Kreipe,H., Buck,F., Parwaresch,M.R. and
            Radzun,H.J.
  TITLE     cDNA cloning and characterization of human monocyte/macrophage
            serine esterase-1
  JOURNAL   Blood 78 (2), 506-512 (1991)
   PUBMED   2070086
REFERENCE   9  (bases 1 to 1946)
  AUTHORS   Long,R.M., Calabrese,M.R., Martin,B.M. and Pohl,L.R.
  TITLE     Cloning and sequencing of a human liver carboxylesterase isoenzyme
  JOURNAL   Life Sci 48 (11), PL43-PL49 (1991)
   PUBMED   1997784
REFERENCE   10 (bases 1 to 1946)
  AUTHORS   Ketterman,A.J., Bowles,M.R. and Pond,S.M.
  TITLE     Purification and characterization of two human liver
            carboxylesterases
  JOURNAL   Int J Biochem 21 (12), 1303-1312 (1989)
   PUBMED   2612723
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU139632.1, CB137639.1,
            L07764.1 and BC012418.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001025195.1.
            
            Summary: This gene encodes a member of the carboxylesterase large
            family. The family members are responsible for the hydrolysis or
            transesterification of various xenobiotics, such as cocaine and
            heroin, and endogenous substrates with ester, thioester, or amide
            bonds. They may participate in fatty acyl and cholesterol ester
            metabolism, and may play a role in the blood-brain barrier system.
            This enzyme is the major liver enzyme and functions in liver drug
            clearance. Mutations of this gene cause carboxylesterase 1
            deficiency. Three transcript variants encoding three different
            isoforms have been found for this gene. [provided by RefSeq, Jun
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: L07764.1, AK292209.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360526.8/ ENSP00000353720.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                AU139632.1         143-235
            94-436              CB137639.1         157-499
            437-1650            L07764.1           441-1654
            1651-1946           BC012418.1         1666-1961
FEATURES             Location/Qualifiers
     source          1..1946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     gene            1..1946
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="carboxylesterase 1"
                     /db_xref="GeneID:1066"
                     /db_xref="HGNC:HGNC:1863"
                     /db_xref="MIM:114835"
     exon            1..93
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..1748
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /EC_number="3.1.1.13"
                     /EC_number="3.1.1.1"
                     /EC_number="3.1.1.56"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; cholesteryl ester hydrolase; human
                     monocyte/macrophage serine esterase 1; carboxylesterase 1
                     (monocyte/macrophage serine esterase 1); liver
                     carboxylesterase 1; egasyn; acyl coenzyme A:cholesterol
                     acyltransferase; triacylglycerol hydrolase;
                     carboxylesterase 2 (liver); retinyl ester hydrolase;
                     cocaine carboxylesterase; brain carboxylesterase hBr1;
                     methylumbelliferyl-acetate deacetylase 1"
                     /codon_start=1
                     /product="liver carboxylesterase 1 isoform a precursor"
                     /protein_id="NP_001020366.1"
                     /db_xref="CCDS:CCDS32450.1"
                     /db_xref="GeneID:1066"
                     /db_xref="HGNC:HGNC:1863"
                     /db_xref="MIM:114835"
                     /translation="MWLRAFILATLSASAAWAGHPSSPPVVDTVHGKVLGKFVSLEGF
                     AQPVAIFLGIPFAKPPLGPLRFTPPQPAEPWSFVKNATSYPPMCTQDPKAGQLLSELF
                     TNRKENIPLKLSEDCLYLNIYTPADLTKKNRLPVMVWIHGGGLMVGAASTYDGLALAA
                     HENVVVVTIQYRLGIWGFFSTGDEHSRGNWGHLDQVAALRWVQDNIASFGGNPGSVTI
                     FGESAGGESVSVLVLSPLAKNLFHRAISESGVALTSVLVKKGDVKPLAEQIAITAGCK
                     TTTSAVMVHCLRQKTEEELLETTLKMKFLSLDLQGDPRESQPLLGTVIDGMLLLKTPE
                     ELQAERNFHTVPYMVGINKQEFGWLIPMQLMSYPLSEGQLDQKTAMSLLWKSYPLVCI
                     AKELIPEATEKYLGGTDDTVKKKDLFLDLIADVMFGVPSVIVARNHRDAGAPTYMYEF
                     QYRPSFSSDMKPKTVIGDHGDELFSVFGAPFLKEGASEEEIRLSKMVMKFWANFARNG
                     NPNGEGLPHWPEYNQKEGYLQIGANTQAAQKLKDKEVAFWTNLFAKKAVEKPPQTEHI
                     EL"
     exon            94..301
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            302..446
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            447..580
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            581..734
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            735..842
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            843..947
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            948..986
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1127
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1211
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1359
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1491
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            1492..1564
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1946
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1922..1927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="hexamer: AATAAA"
     polyA_site      1946
                     /gene="CES1"
                     /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1;
                     PCE-1; REH; SES1; TGH"
                     /note="major polyA site"
ORIGIN      
        1 acagagacct cgcaggcccc gagaactgtc gcccttccac gatgtggctc cgtgccttta
       61 tcctggccac tctctctgct tccgcggctt gggcagggca tccgtcctcg ccacctgtgg
      121 tggacaccgt gcatggcaaa gtgctgggga agttcgtcag cttagaagga tttgcacagc
      181 ctgtggccat tttcctggga atcccttttg ccaagccgcc tcttggaccc ctgaggttta
      241 ctccaccgca gcctgcagaa ccatggagct ttgtgaagaa tgccacctcg taccctccta
      301 tgtgcaccca agatcccaag gcggggcagt tactctcaga gctatttaca aaccgaaagg
      361 agaacattcc tctcaagctt tctgaagact gtctttacct caatatttac actcctgctg
      421 acttgaccaa gaaaaacagg ctgccggtga tggtgtggat ccacggaggg gggctgatgg
      481 tgggtgcggc atcaacctat gatgggctgg cccttgctgc ccatgaaaac gtggtggtgg
      541 tgaccattca atatcgcctg ggcatctggg gattcttcag cacaggggat gaacacagcc
      601 gggggaactg gggtcacctg gaccaggtgg ctgccctgcg ctgggtccag gacaacattg
      661 ccagctttgg agggaaccca ggctctgtga ccatctttgg agagtcagcg ggaggagaaa
      721 gtgtctctgt tcttgttttg tctccattgg ccaagaacct cttccaccgg gccatttctg
      781 agagtggcgt ggccctcact tctgttctgg tgaagaaagg tgatgtcaag cccttggctg
      841 agcaaattgc tatcactgct gggtgcaaaa ccaccacctc tgctgtcatg gttcactgcc
      901 tgcgacagaa gacggaagag gagctcttgg agacgacatt gaaaatgaaa ttcttatctc
      961 tggacttaca gggagacccc agagagagtc aaccccttct gggcactgtg attgatggga
     1021 tgctgctgct gaaaacacct gaagagcttc aagctgaaag gaatttccac actgtcccct
     1081 acatggtcgg aattaacaag caggagtttg gctggttgat tccaatgcag ttgatgagct
     1141 atccactctc cgaagggcaa ctggaccaga agacagccat gtcactcctg tggaagtcct
     1201 atccccttgt ttgcattgct aaggaactga ttccagaagc cactgagaaa tacttaggag
     1261 gaacagacga cactgtcaaa aagaaagacc tgttcctgga cttgatagca gatgtgatgt
     1321 ttggtgtccc atctgtgatt gtggcccgga accacagaga tgctggagca cccacctaca
     1381 tgtatgagtt tcagtaccgt ccaagcttct catcagacat gaaacccaag acggtgatag
     1441 gagaccacgg ggatgagctc ttctccgtct ttggggcccc atttttaaaa gagggtgcct
     1501 cagaagagga gatcagactt agcaagatgg tgatgaaatt ctgggccaac tttgctcgca
     1561 atggaaaccc caatggggaa gggctgcccc actggccaga gtacaaccag aaggaagggt
     1621 atctgcagat tggtgccaac acccaggcgg cccagaagct gaaggacaaa gaagtagctt
     1681 tctggaccaa cctctttgcc aagaaggcag tggagaagcc accccagaca gaacacatag
     1741 agctgtgaat gaagatccag ccggccttgg gagcctggag gagcaaagac tggggtcttt
     1801 tgcgaaaggg attgcaggtt cagaaggcat cttaccatgg ctggggaatt gtctggtggt
     1861 ggggggcagg ggacagaggc catgaaggag caagttttgt atttgtgacc tcagctttgg
     1921 gaataaagga tcttttgaag gccaaa
//
