2024-03-29 18:42:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001025194 2024 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. ACCESSION NM_001025194 XM_001130190 VERSION NM_001025194.1 GI:68508964 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 2024) 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 2024) 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 2024) 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 2024) 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 2024) 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 2024) 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 2024) 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 2024) 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 2024) 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 2024) 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, AB119995.1 and BC012418.1. On Sep 20, 2006 this sequence version replaced gi:113426451. 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 (2) uses a different in-frame splice site at the end of a coding exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter by 1 aa compared to 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 :: BC110338.1, AB119995.1 [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 1-494 AU139632.1 76-569 495-2007 AB119995.1 448-1960 2008-2024 BC012418.1 1959-1975 FEATURES Location/Qualifiers source 1..2024 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q22.2" gene 1..2024 /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..1812 /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 b precursor is encoded by transcript variant 2; 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 b precursor" /protein_id="NP_001020365.1" /db_xref="GI:68508965" /db_xref="CCDS:CCDS45488.1" /db_xref="GeneID:1066" /db_xref="HGNC:1863" /db_xref="HPRD:00268" /db_xref="MIM:114835" /translation="
MWLRAFILATLSASAAWGHPSSPPVVDTVHGKVLGKFVSLEGFAQPVAIFLGIPFAKPPLGPLRFTPPQPAEPWSFVKNATSYPPMCTQDPKAGQLLSELFTNRKENIPLKLSEDCLYLNIYTPADLTKKNRLPVMVWIHGGGLMVGAASTYDGLALAAHENVVVVTIQYRLGIWGFFSTGDEHSRGNWGHLDQVAALRWVQDNIASFGGNPGSVTIFGESAGGESVSVLVLSPLAKNLFHRAISESGVALTSVLVKKGDVKPLAEQIAITAGCKTTTSAVMVHCLRQKTEEELLETTLKMKFLSLDLQGDPRESQPLLGTVIDGMLLLKTPEELQAERNFHTVPYMVGINKQEFGWLIPMQLMSYPLSEGQLDQKTAMSLLWKSYPLVCIAKELIPEATEKYLGGTDDTVKKKDLFLDLIADVMFGVPSVIVARNHRDAGAPTYMYEFQYRPSFSSDMKPKTVIGDHGDELFSVFGAPFLKEGASEEEIRLSKMVMKFWANFARNGNPNGEGLPHWPEYNQKEGYLQIGANTQAAQKLKDKEVAFWTNLFAKKAVEKPPQTEHIEL
" 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..1809 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" /product="liver carboxylesterase 1 isoform b" misc_feature 178..1749 /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 181..1722 /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(529..537,766..774,781..783,1255..1257,1267..1272, 1369..1371,1513..1515,1522..1524) /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(769..771,1168..1170,1510..1512) /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..365 /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 161 /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 208 /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 220 /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 275 /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 282 /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 332 /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 366..510 /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 511..644 /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 536 /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 626 /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 645..798 /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 704 /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 717 /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 799..906 /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 907..1011 /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 1012..1050 /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 1051..1191 /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 1192..1275 /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 1276..1423 /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 1424..1555 /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 1556..1628 /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 1629..2010 /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 1691..1917 /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 1836..2012 /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 1986..1991 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" polyA_site 2010 /gene="CES1" /gene_synonym="ACAT; CE-1; CEH; CES2; hCE-1; HMSE; HMSE1; PCE-1; REH; SES1; TGH" ORIGIN
agcgcagggcggtaactctgggcggggctgggctccagggctggacagcacagtccctctgaactgcacagagacctcgcaggccccgagaactgtcgcccttccacgatgtggctccgtgcctttatcctggccactctctctgcttccgcggcttgggggcatccgtcctcgccacctgtggtggacaccgtgcatggcaaagtgctggggaagttcgtcagcttagaaggatttgcacagcctgtggccattttcctgggaatcccttttgccaagccgcctcttggacccctgaggtttactccaccgcagcctgcagaaccatggagctttgtgaagaatgccacctcgtaccctcctatgtgcacccaagatcccaaggcggggcagttactctcagagctatttacaaaccgaaaggagaacattcctctcaagctttctgaagactgtctttacctcaatatttacactcctgctgacttgaccaagaaaaacaggctgccggtgatggtgtggatccacggaggggggctgatggtgggtgcggcatcaacctatgatgggctggcccttgctgcccatgaaaacgtggtggtggtgaccattcaatatcgcctgggcatctggggattcttcagcacaggggatgaacacagccgggggaactggggtcacctggaccaggtggctgccctgcgctgggtccaggacaacattgccagctttggagggaacccaggctctgtgaccatctttggagagtcagcgggaggagaaagtgtctctgttcttgttttgtctccattggccaagaacctcttccaccgggccatttctgagagtggcgtggccctcacttctgttctggtgaagaaaggtgatgtcaagcccttggctgagcaaattgctatcactgctgggtgcaaaaccaccacctctgctgtcatggttcactgcctgcgacagaagacggaagaggagctcttggagacgacattgaaaatgaaattcttatctctggacttacagggagaccccagagagagtcaaccccttctgggcactgtgattgatgggatgctgctgctgaaaacacctgaagagcttcaagctgaaaggaatttccacactgtcccctacatggtcggaattaacaagcaggagtttggctggttgattccaatgcagttgatgagctatccactctccgaagggcaactggaccagaagacagccatgtcactcctgtggaagtcctatccccttgtttgcattgctaaggaactgattccagaagccactgagaaatacttaggaggaacagacgacactgtcaaaaagaaagacctgttcctggacttgatagcagatgtgatgtttggtgtcccatctgtgattgtggcccggaaccacagagatgctggagcacccacctacatgtatgagtttcagtaccgtccaagcttctcatcagacatgaaacccaagacggtgataggagaccacggggatgagctcttctccgtctttggggccccatttttaaaagagggtgcctcagaagaggagatcagacttagcaagatggtgatgaaattctgggccaactttgctcgcaatggaaaccccaatggggaagggctgccccactggccagagtacaaccagaaggaagggtatctgcagattggtgccaacacccaggcggcccagaagctgaaggacaaagaagtagctttctggaccaacctctttgccaagaaggcagtggagaagccaccccagacagaacacatagagctgtgaatgaagatccagccggccttgggagcctggaggagcaaagactggggtcttttgcgaaagggattgcaggttcagaaggcatcttaccatggctggggaattgtctggtggtggggggcaggggacagaggccatgaaggagcaagttttgtatttgtgacctcagctttgggaataaaggatcttttgaaggccaaaaaaaaaaaaaaaaa
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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_001020365 -> EC 3.1.1.1 NP_001020365 -> EC 3.1.1.56
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