LOCUS       NM_001807               2381 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens carboxyl ester lipase (CEL), mRNA.
ACCESSION   NM_001807 XM_002346209 XM_002346210
VERSION     NM_001807.6
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 2381)
  AUTHORS   Brekke,R.S., Gravdal,A., El Jellas,K., Curry,G.E., Lin,J.,
            Wilhelm,S.J., Steine,S.J., Mas,E., Johansson,S., Lowe,M.E.,
            Johansson,B.B., Xiao,X., Fjeld,K. and Molven,A.
  TITLE     Common single-base insertions in the VNTR of the carboxyl ester
            lipase (CEL) gene are benign and also likely to arise somatically
            in the exocrine pancreas
  JOURNAL   Hum Mol Genet 33 (11), 1001-1014 (2024)
   PUBMED   38483348
  REMARK    GeneRIF: Common single-base insertions in the VNTR of the carboxyl
            ester lipase (CEL) gene are benign and also likely to arise
            somatically in the exocrine pancreas.
REFERENCE   2  (bases 1 to 2381)
  AUTHORS   Lindquist,S., Wang,Y., Andersson,E.L., Tsuji Grebe,S.,
            Alenius,G.M., Rantapaa-Dahlqvist,S., Lundberg,L. and Hernell,O.
  TITLE     Effects of bile salt-stimulated lipase on blood cells and
            associations with disease activity in human inflammatory joint
            disorders
  JOURNAL   PLoS One 18 (8), e0289980 (2023)
   PUBMED   37566600
  REMARK    GeneRIF: Effects of bile salt-stimulated lipase on blood cells and
            associations with disease activity in human inflammatory joint
            disorders.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2381)
  AUTHORS   Brejchova,K., Paluchova,V., Brezinova,M., Cajka,T., Balas,L.,
            Durand,T., Krizova,M., Stranak,Z. and Kuda,O.
  TITLE     Triacylglycerols containing branched palmitic acid ester of
            hydroxystearic acid (PAHSA) are present in the breast milk and
            hydrolyzed by carboxyl ester lipase
  JOURNAL   Food Chem 388, 132983 (2022)
   PUBMED   35486985
  REMARK    GeneRIF: Triacylglycerols containing branched palmitic acid ester
            of hydroxystearic acid (PAHSA) are present in the breast milk and
            hydrolyzed by carboxyl ester lipase.
REFERENCE   4  (bases 1 to 2381)
  AUTHORS   El Jellas,K., Dusatkova,P., Haldorsen,I.S., Molnes,J., Tjora,E.,
            Johansson,B.B., Fjeld,K., Johansson,S., Pruhova,S., Groop,L.,
            Lohr,J.M., Njolstad,P.R. and Molven,A.
  TITLE     Two New Mutations in the CEL Gene Causing Diabetes and Hereditary
            Pancreatitis: How to Correctly Identify MODY8 Cases
  JOURNAL   J Clin Endocrinol Metab 107 (4), e1455-e1466 (2022)
   PUBMED   34850019
  REMARK    GeneRIF: Two New Mutations in the CEL Gene Causing Diabetes and
            Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
REFERENCE   5  (bases 1 to 2381)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   6  (bases 1 to 2381)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624459
REFERENCE   7  (bases 1 to 2381)
  AUTHORS   Kumar,B.V., Aleman-Gomez,J.A., Colwell,N., Lopez-Candales,A.,
            Bosner,M.S., Spilburg,C.A., Lowe,M. and Lange,L.G.
  TITLE     Structure of the human pancreatic cholesterol esterase gene
  JOURNAL   Biochemistry 31 (26), 6077-6081 (1992)
   PUBMED   1627550
REFERENCE   8  (bases 1 to 2381)
  AUTHORS   Lidberg,U., Nilsson,J., Stromberg,K., Stenman,G., Sahlin,P.,
            Enerback,S. and Bjursell,G.
  TITLE     Genomic organization, sequence analysis, and chromosomal
            localization of the human carboxyl ester lipase (CEL) gene and a
            CEL-like (CELL) gene
  JOURNAL   Genomics 13 (3), 630-640 (1992)
   PUBMED   1639390
REFERENCE   9  (bases 1 to 2381)
  AUTHORS   Taylor,A.K., Zambaux,J.L., Klisak,I., Mohandas,T., Sparkes,R.S.,
            Schotz,M.C. and Lusis,A.J.
  TITLE     Carboxyl ester lipase: a highly polymorphic locus on human
            chromosome 9qter
  JOURNAL   Genomics 10 (2), 425-431 (1991)
   PUBMED   1676983
REFERENCE   10 (bases 1 to 2381)
  AUTHORS   Nilsson,J., Blackberg,L., Carlsson,P., Enerback,S., Hernell,O. and
            Bjursell,G.
  TITLE     cDNA cloning of human-milk bile-salt-stimulated lipase and evidence
            for its identity to pancreatic carboxylic ester hydrolase
  JOURNAL   Eur J Biochem 192 (2), 543-550 (1990)
   PUBMED   1698625
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162417.23.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 21, 2019 this sequence version replaced NM_001807.5.
            
            Summary: The protein encoded by this gene is a glycoprotein
            secreted from the pancreas into the digestive tract and from the
            lactating mammary gland into human milk. The physiological role of
            this protein is in cholesterol and lipid-soluble vitamin ester
            hydrolysis and absorption. This encoded protein promotes large
            chylomicron production in the intestine. Also its presence in
            plasma suggests its interactions with cholesterol and oxidized
            lipoproteins to modulate the progression of atherosclerosis. In
            pancreatic tumoral cells, this encoded protein is thought to be
            sequestrated within the Golgi compartment and is probably not
            secreted. This gene contains a variable number of tandem repeat
            (VNTR) polymorphism in the coding region that may influence the
            function of the encoded protein. [provided by RefSeq, Jul 2008].
            
            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 :: DRR138526.342715.1,
                                           DRR138519.322135.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000372080.8/
                                                ENSP00000361151.6
            RefSeq Select criteria           :: based on single protein-coding
                                                transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-88                AL162417.23        40790-40877
            89-239              AL162417.23        43213-43363
            240-362             AL162417.23        43449-43571
            363-560             AL162417.23        43849-44046
            561-691             AL162417.23        45339-45469
            692-799             AL162417.23        45647-45754
            800-917             AL162417.23        45897-46014
            918-1104            AL162417.23        47481-47667
            1105-1308           AL162417.23        47865-48068
            1309-1506           AL162417.23        49270-49467
            1507-2381           AL162417.23        49796-50670
FEATURES             Location/Qualifiers
     source          1..2381
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.13"
     gene            1..2381
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /note="carboxyl ester lipase"
                     /db_xref="GeneID:1056"
                     /db_xref="HGNC:HGNC:1848"
                     /db_xref="MIM:114840"
     exon            1..88
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..2284
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /EC_number="3.1.1.13"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.6"
                     /note="carboxyl ester hydrolase; carboxyl ester lipase
                     (bile salt-stimulated lipase); cholesterol esterase;
                     fetoacinar pancreatic protein; lysophospholipase,
                     pancreatic; sterol esterase; bile salt-activated lipase;
                     bucelipase"
                     /codon_start=1
                     /product="bile salt-activated lipase precursor"
                     /protein_id="NP_001798.3"
                     /db_xref="CCDS:CCDS43896.2"
                     /db_xref="GeneID:1056"
                     /db_xref="HGNC:HGNC:1848"
                     /db_xref="MIM:114840"
                     /translation="MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLG
                     DSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNFKKRCLQATITQDSTYGDEDCLY
                     LNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVT
                     FNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGA
                     SVSLQTLSPYNKGLIRRAISQSGVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQ
                     CLKVTDPRALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADPINLYANAADIDYIA
                     GTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWA
                     QDPSQENKKKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKW
                     VGADHADDIQYVFGKPFATPTGYRPQDRTVSKAMIAYWTNFAKTGDPNMGDSAVPTHW
                     EPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPVPPTGDS
                     EATPVPPTGDSETAPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAP
                     PVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVP
                     PTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDSGAPPVPPTGDSEAAPVPPTD
                     DSKEAQMPAVIRF"
     exon            89..239
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            240..362
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            363..560
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            561..691
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            692..799
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            800..917
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1104
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1308
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1506
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..2381
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2362..2367
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /note="hexamer: AATAAA"
     polyA_site      2381
                     /gene="CEL"
                     /gene_synonym="BAL; BSDL; BSSL; CEase; CELL; FAP; FAPP;
                     LIPA; MODY8"
                     /note="major polyA site"
ORIGIN      
        1 cacccagagg ctgatgctca ccatggggcg cctgcaactg gttgtgttgg gcctcacctg
       61 ctgctgggca gtggcgagtg ccgcgaagct gggcgccgtg tacacagaag gtgggttcgt
      121 ggaaggcgtc aataagaagc tcggcctcct gggtgactct gtggacatct tcaagggcat
      181 ccccttcgca gctcccacca aggccctgga aaatcctcag ccacatcctg gctggcaagg
      241 gaccctgaag gccaagaact tcaagaagag atgcctgcag gccaccatca cccaggacag
      301 cacctacggg gatgaagact gcctgtacct caacatttgg gtgccccagg gcaggaagca
      361 agtctcccgg gacctgcccg ttatgatctg gatctatgga ggcgccttcc tcatggggtc
      421 cggccatggg gccaacttcc tcaacaacta cctgtatgac ggcgaggaga tcgccacacg
      481 cggaaacgtc atcgtggtca ccttcaacta ccgtgtcggc ccccttgggt tcctcagcac
      541 tggggacgcc aatctgccag gtaactatgg ccttcgggat cagcacatgg ccattgcttg
      601 ggtgaagagg aatatcgcgg ccttcggggg ggaccccaac aacatcacgc tcttcgggga
      661 gtctgctgga ggtgccagcg tctctctgca gaccctctcc ccctacaaca agggcctcat
      721 ccggcgagcc atcagccaga gcggcgtggc cctgagtccc tgggtcatcc agaaaaaccc
      781 actcttctgg gccaaaaagg tggctgagaa ggtgggttgc cctgtgggtg atgccgccag
      841 gatggcccag tgtctgaagg ttactgatcc ccgagccctg acgctggcct ataaggtgcc
      901 gctggcaggc ctggagtacc ccatgctgca ctatgtgggc ttcgtccctg tcattgatgg
      961 agacttcatc cccgctgacc cgatcaacct gtacgccaac gccgccgaca tcgactatat
     1021 agcaggcacc aacaacatgg acggccacat cttcgccagc atcgacatgc ctgccatcaa
     1081 caagggcaac aagaaagtca cggaggagga cttctacaag ctggtcagtg agttcacaat
     1141 caccaagggg ctcagaggcg ccaagacgac ctttgatgtc tacaccgagt cctgggccca
     1201 ggacccatcc caggagaata agaagaagac tgtggtggac tttgagaccg atgtcctctt
     1261 cctggtgccc accgagattg ccctagccca gcacagagcc aatgccaaga gtgccaagac
     1321 ctacgcctac ctgttttccc atccctctcg gatgcccgtc taccccaaat gggtgggggc
     1381 cgaccatgca gatgacattc agtacgtttt cgggaagccc ttcgccaccc ccacgggcta
     1441 ccggccccaa gacaggacag tctctaaggc catgatcgcc tactggacca actttgccaa
     1501 aacaggggac cccaacatgg gcgactcggc tgtgcccaca cactgggaac cctacactac
     1561 ggaaaacagc ggctacctgg agatcaccaa gaagatgggc agcagctcca tgaagcggag
     1621 cctgagaacc aacttcctgc gctactggac cctcacctat ctggcgctgc ccacagtgac
     1681 cgaccaggag gccacccctg tgccccccac aggggactcc gaggccactc ccgtgccccc
     1741 cacgggtgac tccgagaccg cccccgtgcc gcccacgggt gactccgggg ccccccccgt
     1801 gccgcccacg ggtgactccg gggccccccc cgtgccgccc acgggtgact ccggggcccc
     1861 ccccgtgccg cccacgggtg actccggggc cccccccgtg ccgcccacgg gtgactccgg
     1921 ggcccccccc gtgccgccca cgggtgactc cggggccccc cccgtgccgc ccacgggtga
     1981 ctccggggcc ccccccgtgc cgcccacggg tgactccggc gccccccccg tgccgcccac
     2041 gggtgacgcc gggccccccc ccgtgccgcc cacgggtgac tccggcgccc cccccgtgcc
     2101 gcccacgggt gactccgggg ccccccccgt gacccccacg ggtgactccg agaccgcccc
     2161 cgtgccgccc acgggtgact ccggggcccc ccctgtgccc cccacgggtg actctgaggc
     2221 tgcccctgtg ccccccacag atgactccaa ggaagctcag atgcctgcag tcattaggtt
     2281 ttagcgtccc atgagccttg gtatcaagag gccacaagag tgggacccca ggggctcccc
     2341 tcccatcttg agctcttcct gaataaagcc tcatacccct g
//
