2024-03-29 19:52:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001025195 2027 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens carboxylesterase 1 (CES1), transcript variant 1, mRNA. ACCESSION NM_001025195 VERSION NM_001025195.1 GI:68508966 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 2027) AUTHORS Pare,G., Eriksson,N., Lehr,T., Connolly,S., Eikelboom,J., Ezekowitz,M.D., Axelsson,T., Haertter,S., Oldgren,J., Reilly,P., Siegbahn,A., Syvanen,A.C., Wadelius,C., Wadelius,M., Zimdahl-Gelling,H., Yusuf,S. and Wallentin,L. TITLE Genetic determinants of dabigatran plasma levels and their relation to bleeding JOURNAL Circulation 127 (13), 1404-1412 (2013) PUBMED 23467860 REFERENCE 2 (bases 1 to 2027) AUTHORS Zhu,H.J., Wang,X., Gawronski,B.E., Brinda,B.J., Angiolillo,D.J. and Markowitz,J.S. TITLE Carboxylesterase 1 as a determinant of clopidogrel metabolism and activation JOURNAL J. Pharmacol. Exp. Ther. 344 (3), 665-672 (2013) PUBMED 23275066 REMARK GeneRIF: Deficient CES1 catalytic activity resulting from CES1 inhibition. REFERENCE 3 (bases 1 to 2027) AUTHORS Lewis,J.P., Horenstein,R.B., Ryan,K., O'Connell,J.R., Gibson,Q., Mitchell,B.D., Tanner,K., Chai,S., Bliden,K.P., Tantry,U.S., Peer,C.J., Figg,W.D., Spencer,S.D., Pacanowski,M.A., Gurbel,P.A. and Shuldiner,A.R. TITLE The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response JOURNAL Pharmacogenet. Genomics 23 (1), 1-8 (2013) PUBMED 23111421 REMARK GeneRIF: Genetic variation in CES1 may be an important determinant of the efficacy of clopidogrel. REFERENCE 4 (bases 1 to 2027) AUTHORS Zhao,B., Bie,J., Wang,J., Marqueen,S.A. and Ghosh,S. TITLE Identification of a novel intracellular cholesteryl ester hydrolase (carboxylesterase 3) in human macrophages: compensatory increase in its expression after carboxylesterase 1 silencing JOURNAL Am. J. Physiol., Cell Physiol. 303 (4), C427-C435 (2012) PUBMED 22700792 REMARK GeneRIF: This study provides the first evidence of functional compensation whereby increased expression of CES3 restores intracellular cholesteryl ester hydrolytic activity and free cholesterol efflux in CES1-deficient cells. REFERENCE 5 (bases 1 to 2027) AUTHORS Wu,X.Q., Zhu,D.L., Zhang,J.X., Zhong,Y., Xi,Y., An,H.R., Liang,Y. and Yang,Y.R. TITLE [The relationship between carboxylesterase 1 gene polymorphisms and susceptibility to antituberculosis drug-induced hepatotoxicity] JOURNAL Zhonghua Nei Ke Za Zhi 51 (7), 524-530 (2012) PUBMED 22943824 REMARK GeneRIF: The CES1 SNP rs8192950 AC genotype and rs1968753 GG genotype might be the candidates for risk prediction of antituberculosis drug-induced hepatotoxicity. REFERENCE 6 (bases 1 to 2027) 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 2027) 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 2027) 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 2027) 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 2027) 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. 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 :: AK292209.1, L07764.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-160 AU139632.1 76-235 161-503 CB137639.1 157-499 504-1717 L07764.1 441-1654 1718-2027 BC012418.1 1666-1975 FEATURES Location/Qualifiers source 1..2027 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.2" gene 1..2027 /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:1863" /db_xref="HPRD:00268" /db_xref="MIM:114835" exon 1..160 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" misc_feature 13..15 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /note="upstream in-frame stop codon" variation 34 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:3815583" CDS 109..1815 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /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; acyl-coenzyme A:cholesterol acyltransferase; methylumbelliferyl-acetate deacetylase 1" /codon_start=1 /product="liver carboxylesterase 1 isoform a precursor" /protein_id="NP_001020366.1" /db_xref="GI:68508967" /db_xref="CCDS:CCDS32450.1" /db_xref="GeneID:1066" /db_xref="HGNC:1863" /db_xref="HPRD:00268" /db_xref="MIM:114835" /translation="
MWLRAFILATLSASAAWAGHPSSPPVVDTVHGKVLGKFVSLEGFAQPVAIFLGIPFAKPPLGPLRFTPPQPAEPWSFVKNATSYPPMCTQDPKAGQLLSELFTNRKENIPLKLSEDCLYLNIYTPADLTKKNRLPVMVWIHGGGLMVGAASTYDGLALAAHENVVVVTIQYRLGIWGFFSTGDEHSRGNWGHLDQVAALRWVQDNIASFGGNPGSVTIFGESAGGESVSVLVLSPLAKNLFHRAISESGVALTSVLVKKGDVKPLAEQIAITAGCKTTTSAVMVHCLRQKTEEELLETTLKMKFLSLDLQGDPRESQPLLGTVIDGMLLLKTPEELQAERNFHTVPYMVGINKQEFGWLIPMQLMSYPLSEGQLDQKTAMSLLWKSYPLVCIAKELIPEATEKYLGGTDDTVKKKDLFLDLIADVMFGVPSVIVARNHRDAGAPTYMYEFQYRPSFSSDMKPKTVIGDHGDELFSVFGAPFLKEGASEEEIRLSKMVMKFWANFARNGNPNGEGLPHWPEYNQKEGYLQIGANTQAAQKLKDKEVAFWTNLFAKKAVEKPPQTEHIEL
" sig_peptide 109..162 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 163..1812 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /product="liver carboxylesterase 1 isoform a" misc_feature 181..1752 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /note="Carboxylesterase family; Region: COesterase; pfam00135" /db_xref="CDD:201026" misc_feature 184..1725 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /note="Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These...; Region: Esterase_lipase; cd00312" /db_xref="CDD:29383" misc_feature order(532..540,769..777,784..786,1258..1260,1270..1275, 1372..1374,1516..1518,1525..1527) /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /note="substrate binding pocket [chemical binding]; other site" /db_xref="CDD:29383" misc_feature order(772..774,1171..1173,1513..1515) /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /note="catalytic triad [active]" /db_xref="CDD:29383" exon 161..368 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" variation 164 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="g" /replace="t" /db_xref="dbSNP:3826190" variation 211 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="c" /replace="t" /db_xref="dbSNP:3826191" variation 223 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="a" /replace="g" /db_xref="dbSNP:3826192" variation 278 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="c" /replace="g" /db_xref="dbSNP:3177828" variation 285 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="c" /replace="g" /db_xref="dbSNP:3826194" variation 335 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="a" /replace="g" /db_xref="dbSNP:2307240" exon 369..513 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 514..647 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" variation 539 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="a" /replace="g" /db_xref="dbSNP:71647871" variation 629 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="a" /replace="g" /db_xref="dbSNP:4784575" exon 648..801 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" variation 707 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="a" /replace="g" /db_xref="dbSNP:2307243" variation 720 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /replace="a" /replace="c" /db_xref="dbSNP:2307227" exon 802..909 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 910..1014 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1015..1053 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1054..1194 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1195..1278 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1279..1426 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1427..1558 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1559..1631 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" exon 1632..2013 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /inference="alignment:Splign:1.39.8" STS 1694..1920 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /standard_name="RH11630" /db_xref="UniSTS:42950" STS 1839..2015 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /standard_name="D16S2959" /db_xref="UniSTS:13485" polyA_signal 1989..1994 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" polyA_site 2013 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" ORIGIN
agcgcagggcggtaactctgggcggggctgggctccagggctggacagcacagtccctctgaactgcacagagacctcgcaggccccgagaactgtcgcccttccacgatgtggctccgtgcctttatcctggccactctctctgcttccgcggcttgggcagggcatccgtcctcgccacctgtggtggacaccgtgcatggcaaagtgctggggaagttcgtcagcttagaaggatttgcacagcctgtggccattttcctgggaatcccttttgccaagccgcctcttggacccctgaggtttactccaccgcagcctgcagaaccatggagctttgtgaagaatgccacctcgtaccctcctatgtgcacccaagatcccaaggcggggcagttactctcagagctatttacaaaccgaaaggagaacattcctctcaagctttctgaagactgtctttacctcaatatttacactcctgctgacttgaccaagaaaaacaggctgccggtgatggtgtggatccacggaggggggctgatggtgggtgcggcatcaacctatgatgggctggcccttgctgcccatgaaaacgtggtggtggtgaccattcaatatcgcctgggcatctggggattcttcagcacaggggatgaacacagccgggggaactggggtcacctggaccaggtggctgccctgcgctgggtccaggacaacattgccagctttggagggaacccaggctctgtgaccatctttggagagtcagcgggaggagaaagtgtctctgttcttgttttgtctccattggccaagaacctcttccaccgggccatttctgagagtggcgtggccctcacttctgttctggtgaagaaaggtgatgtcaagcccttggctgagcaaattgctatcactgctgggtgcaaaaccaccacctctgctgtcatggttcactgcctgcgacagaagacggaagaggagctcttggagacgacattgaaaatgaaattcttatctctggacttacagggagaccccagagagagtcaaccccttctgggcactgtgattgatgggatgctgctgctgaaaacacctgaagagcttcaagctgaaaggaatttccacactgtcccctacatggtcggaattaacaagcaggagtttggctggttgattccaatgcagttgatgagctatccactctccgaagggcaactggaccagaagacagccatgtcactcctgtggaagtcctatccccttgtttgcattgctaaggaactgattccagaagccactgagaaatacttaggaggaacagacgacactgtcaaaaagaaagacctgttcctggacttgatagcagatgtgatgtttggtgtcccatctgtgattgtggcccggaaccacagagatgctggagcacccacctacatgtatgagtttcagtaccgtccaagcttctcatcagacatgaaacccaagacggtgataggagaccacggggatgagctcttctccgtctttggggccccatttttaaaagagggtgcctcagaagaggagatcagacttagcaagatggtgatgaaattctgggccaactttgctcgcaatggaaaccccaatggggaagggctgccccactggccagagtacaaccagaaggaagggtatctgcagattggtgccaacacccaggcggcccagaagctgaaggacaaagaagtagctttctggaccaacctctttgccaagaaggcagtggagaagccaccccagacagaacacatagagctgtgaatgaagatccagccggccttgggagcctggaggagcaaagactggggtcttttgcgaaagggattgcaggttcagaaggcatcttaccatggctggggaattgtctggtggtggggggcaggggacagaggccatgaaggagcaagttttgtatttgtgacctcagctttgggaataaaggatcttttgaaggccaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1066 -> Molecular function: GO:0004091 [carboxylesterase activity] evidence: IBA GeneID:1066 -> Molecular function: GO:0047374 [methylumbelliferyl-acetate deacetylase activity] evidence: IEA GeneID:1066 -> Molecular function: GO:0050253 [retinyl-palmitate esterase activity] evidence: IEA GeneID:1066 -> Molecular function: GO:0080030 [methyl indole-3-acetate esterase activity] evidence: IEA GeneID:1066 -> Molecular function: GO:0080031 [methyl salicylate esterase activity] evidence: IEA GeneID:1066 -> Molecular function: GO:0080032 [methyl jasmonate esterase activity] evidence: IEA GeneID:1066 -> Biological process: GO:0008152 [metabolic process] evidence: TAS GeneID:1066 -> Biological process: GO:0009636 [response to toxic substance] evidence: TAS GeneID:1066 -> Cellular component: GO:0005788 [endoplasmic reticulum lumen] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001020366 -> EC 3.1.1.1 NP_001020366 -> EC 3.1.1.56
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