LOCUS       NM_007272               3482 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens chymotrypsin C (CTRC), mRNA.
ACCESSION   NM_007272
VERSION     NM_007272.3
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 3482)
  AUTHORS   Stefanovics,R., Sandor,M., Demcsak,A., Berke,G., Nemeth,B.C.,
            Zhang,W., Abu-El-Haija,M. and Sahin-Toth,M.
  TITLE     Novel chymotrypsin C (CTRC) variants from real-world genetic
            testing of pediatric chronic pancreatitis cases
  JOURNAL   Pancreatology 24 (5), 690-697 (2024)
   PUBMED   38876922
  REMARK    GeneRIF: Novel chymotrypsin C (CTRC) variants from real-world
            genetic testing of pediatric chronic pancreatitis cases.
REFERENCE   2  (bases 1 to 3482)
  AUTHORS   Berke,G., Beer,S., Gede,N., Takats,A., Szentesi,A., Hegyi,P.,
            Rosendahl,J., Sahin-Toth,M., Nemeth,B.C. and Hegyi,E.
  TITLE     Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=)
            CTRC variant: case-control studies and meta-analysis
  JOURNAL   Pancreatology 23 (5), 481-490 (2023)
   PUBMED   37321941
  REMARK    GeneRIF: Risk of chronic pancreatitis in carriers of the c.180C>T
            (p.Gly60=) CTRC variant: case-control studies and meta-analysis.
REFERENCE   3  (bases 1 to 3482)
  AUTHORS   Takats,A., Berke,G., Gede,N., Nemeth,B.C., Witt,H., Gluszek,S.,
            Rygiel,A.M., Hegyi,P., Sahin-Toth,M. and Hegyi,E.
  TITLE     Risk of chronic pancreatitis in carriers of loss-of-function CTRC
            variants: A meta-analysis
  JOURNAL   PLoS One 17 (5), e0268859 (2022)
   PUBMED   35594281
  REMARK    GeneRIF: Risk of chronic pancreatitis in carriers of
            loss-of-function CTRC variants: A meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3482)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3482)
  AUTHORS   Girodon,E., Rebours,V., Chen,J.M., Pagin,A., Levy,P., Ferec,C. and
            Bienvenu,T.
  TITLE     Clinical interpretation of SPINK1 and CTRC variants in pancreatitis
  JOURNAL   Pancreatology 20 (7), 1354-1367 (2020)
   PUBMED   32948427
  REMARK    GeneRIF: Clinical interpretation of SPINK1 and CTRC variants in
            pancreatitis.
REFERENCE   6  (bases 1 to 3482)
  AUTHORS   Yoshino-Yasuda,I., Kobayashi,K., Akiyama,M., Itoh,H., Tomomura,A.
            and Saheki,T.
  TITLE     Caldecrin is a novel-type serine protease expressed in pancreas,
            but its homologue, elastase IV, is an artifact during cloning
            derived from caldecrin gene
  JOURNAL   J Biochem 123 (3), 546-554 (1998)
   PUBMED   9538241
REFERENCE   7  (bases 1 to 3482)
  AUTHORS   Tomomura,A., Akiyama,M., Itoh,H., Yoshino,I., Tomomura,M.,
            Nishii,Y., Noikura,T. and Saheki,T.
  TITLE     Molecular cloning and expression of human caldecrin
  JOURNAL   FEBS Lett 386 (1), 26-28 (1996)
   PUBMED   8635596
REFERENCE   8  (bases 1 to 3482)
  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   9  (bases 1 to 3482)
  AUTHORS   Fernandez-Britto,J.E., Bacallao,J., Castillo,J.A., Campos,R.,
            Wong,R. and Guski,H.
  TITLE     Atherosclerosis in diabetes and hypertension. A comparative
            morphometric study of their progression using an atherometric
            system
  JOURNAL   Zentralbl Pathol 137 (6), 487-491 (1991)
   PUBMED   1805926
REFERENCE   10 (bases 1 to 3482)
  AUTHORS   Harris,W.R., Malencik,D.A., Johnson,C.M., Carr,S.A., Roberts,G.D.,
            Byles,C.A., Anderson,S.R., Heilmeyer,L.M. Jr., Fischer,E.H. and
            Crabb,J.W.
  TITLE     Purification and characterization of catalytic fragments of
            phosphorylase kinase gamma subunit missing a calmodulin-binding
            domain
  JOURNAL   J Biol Chem 265 (20), 11740-11745 (1990)
   PUBMED   2365696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC015118.1, S82198.1 and
            AL031283.26.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_007272.2.
            
            Summary: This gene encodes a member of the peptidase S1 family. The
            encoded protein is a serum calcium-decreasing factor that has
            chymotrypsin-like protease activity. Alternatively spliced
            transcript variants have been observed, but their full-length
            nature has not been determined. [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 :: AK289447.1, DRR138526.421961.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375949.5/ ENSP00000365116.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-890               BC015118.1         8-897
            891-898             S82198.1           869-876
            899-3482            AL031283.26        166309-168892
FEATURES             Location/Qualifiers
     source          1..3482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..3482
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /note="chymotrypsin C"
                     /db_xref="GeneID:11330"
                     /db_xref="HGNC:HGNC:2523"
                     /db_xref="MIM:601405"
     exon            1..62
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..829
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /EC_number="3.4.21.2"
                     /note="elastase 4; serum calcium decreasing factor;
                     elastase IV; caldecrin; chymotrypsinogen C"
                     /codon_start=1
                     /product="chymotrypsin-C preproprotein"
                     /protein_id="NP_009203.2"
                     /db_xref="CCDS:CCDS156.1"
                     /db_xref="GeneID:11330"
                     /db_xref="HGNC:HGNC:2523"
                     /db_xref="MIM:601405"
                     /translation="MLGITVLAALLACASSCGVPSFPPNLSARVVGGEDARPHSWPWQ
                     ISLQYLKNDTWRHTCGGTLIASNFVLTAAHCISNTRTYRVAVGKNNLEVEDEEGSLFV
                     GVDTIHVHKRWNALLLRNDIALIKLAEHVELSDTIQVACLPEKDSLLPKDYPCYVTGW
                     GRLWTNGPIADKLQQGLQPVVDHATCSRIDWWGFRVKKTMVCAGGDGVISACNGDSGG
                     PLNCQLENGSWEVFGIVSFGSRRGCNTRKKPVVYTRVSAYIDWINEKMQL"
     exon            63..154
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     exon            155..252
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     exon            253..378
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     exon            379..515
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     exon            516..661
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     exon            662..814
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     exon            815..3482
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      870..875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /note="hexamer: AATAAA"
     polyA_site      894
                     /gene="CTRC"
                     /gene_synonym="CLCR; ELA4"
                     /note="major polyA site"
ORIGIN      
        1 agccagtcct gagcacctaa ccatgttggg catcactgtc ctcgctgcgc tcttggcctg
       61 tgcctccagc tgtggggtgc ccagcttccc gcccaaccta tccgcccgag tggtgggagg
      121 agaggatgcc cggccccaca gctggccctg gcagatctcc ctccagtacc tcaagaacga
      181 cacgtggagg catacgtgtg gcgggacttt gattgctagc aacttcgtcc tcactgccgc
      241 ccactgcatc agcaacaccc ggacctaccg tgtggccgtg ggaaagaaca acctggaggt
      301 ggaagacgaa gaaggatccc tgtttgtggg tgtggacacc atccacgtcc acaagagatg
      361 gaatgccctc ctgttgcgca atgatattgc cctcatcaag cttgcagagc atgtggagct
      421 gagtgacacc atccaggtgg cctgcctgcc agagaaggac tccctgctcc ccaaggacta
      481 cccctgctat gtcaccggct ggggccgcct ctggaccaac ggccccattg ctgataagct
      541 gcagcagggc ctgcagcccg tggtggatca cgccacgtgc tccaggattg actggtgggg
      601 cttcagggtg aagaaaacca tggtgtgcgc tgggggcgat ggcgtcatct cagcctgcaa
      661 tggggactcc ggtggcccac tgaactgcca gttggagaac ggttcctggg aggtgtttgg
      721 catcgtcagc tttggctccc ggcggggctg caacacccgc aagaagccgg tagtctacac
      781 ccgggtgtcc gcctacatcg actggatcaa cgagaaaatg cagctgtgat ttgttgctgg
      841 gagcggcggc agcgagtccc tgcaacagca ataaacttcc ttctcctcgg gccacctgga
      901 tccttgattt gtgcagcttc tgttgcttcc ctcctctctg gtgctgcccc tttccacact
      961 atggagccaa agagagaccc cactcagcca gtttccccca ccctgcatta gacaggtggg
     1021 gaaacagagg ccgggagaga gggccaagga aggagcctcc tggggcatta atgggaggca
     1081 gggggctggg gtggagagcc cagggagtcc tgcgtgaagc cggaggggat gggagtgaag
     1141 gacgcatcag acaccttccc cgctccatct cacaagctgc gaacaggtga gaccctgatg
     1201 aaatcactcg cttctccgat cctacctcca ccgaggggcc tggcaggtcc tcacagcccc
     1261 ccagcagcag gtggaagaca gggtctcccc aaaagcagcg tcccccaggc cagagagacc
     1321 aggccacagg aggatggcca aagctcaggg acaaccactc ctggggaagg ggctccctag
     1381 cagggacccc ccacccccac cccgcagcac agaccccatg gctgctgttg gcaggggctc
     1441 tctgctttga gaagtgttta gtgagccagc ccctgtgtcc agtcctgtgc tgggcatgat
     1501 gagggtacag gaagaggaag agaccccagc atcatcctca ggagacatac gtttgaagaa
     1561 ggcaatggtt tccacacaga atcacagtgg tcagagctgg atatgctttc attgcattag
     1621 acaagtgggg aaactgaggc ccagagagag gaaggagttg ggatagctgg caatgcctga
     1681 tccaggagaa gagagttctc ctgaggctga caagaggcca agaggagcca gagatgagat
     1741 agacccagtg tccagggagg gacatgccag tgggatcaga ccctgatgac aggggcagcc
     1801 agagatgaga gagatccaat gtccagggag ggacatgcca gggggatcag accctgatga
     1861 taggggcctc tggcctggcc tgctcctggg aatgtcctgt tctgtggggg tgcccccagc
     1921 ccagcctctg gacccctcgc tggagagccc tcggctgcag ctacctcaga ctggcccaag
     1981 agttgtccct tttctccacc agactttgtc ccctgggagt ggggaccatg gtgtgactcc
     2041 cacaccccca tgatgccaag gcaagtctca ggaaagactt gacttactca acaagcagtg
     2101 ggagctacag ggagcccagc accacccaga cccgggaatc caggatgggg gtaccccagc
     2161 tgtgcaggag acagaccagt aaatagatca ttaaattccc tggtatacat ttgaaaacag
     2221 aaatacagac cagaagcata gaaacaggac acctgaagca gtgtcagttg gcgggaggaa
     2281 tccaggatgg cttcctggag gtgatgatgc ccaagcttgg tcttaaaatt tgactagaag
     2341 gtacccaagt acagaacgta gtccttctta agtttgctta atctaaactt cattcccacc
     2401 tatcctcttc tttttttttt tttttttttt gagacggagt cttgctctga tgcccaggct
     2461 ggagtgcagt ggcacaatct cagctcactg caacctccac ctcccaggtt caagtgattc
     2521 ttctgcctca gcctcccaag tagctgggat tacaggcacg caccaccatg cacagctaat
     2581 tttttttttt tttttttaga cagagtctcg ctctctcacc tgggctgtag tgcagtggtg
     2641 ccatctcggc tcactgcaag ctccgcctcc caggttcacg ccattctcct gcctcagcct
     2701 cctgagtagc tgggactaca ggcgccagcc accatgcctg gctaattttt tttttttttg
     2761 tatttttagc agagacgggg tttcaccgtg ttagccagga tggtctcgat ctcctgatct
     2821 cgtgatccac ctgcctcggc ctcccaaagt gctggcatta caggcgtgag ccaccgtgcc
     2881 cggccccagc taattttttt gtattttttt agtagagatg gggtttcacc atgtcgtcca
     2941 ggctggtctc aaactcctga cctcaggtga tctgcccgcc ttggcctccc aaagtactgg
     3001 gatcacaggt gtgagccacc acacccggtc tcattcccag ctatcttctt ttgtgtatgt
     3061 ctttatattg ggggttataa atgctaaatg cttgctgtcc tcagatccct tgtagttagg
     3121 gagctaatta aaatgttaat taatattaca atgttattta agcaatgtta aataatatct
     3181 aacatttatt gggcacttag tatgtgccaa gcactatcct ataggtttta cattatctca
     3241 atccccagaa acaatcccat gaggtaggtt actattaaca tcatgcccat tttacagatg
     3301 agaaaactga ggccagacag ggttagtgac ttcccaatgt gtgaactaga aggtagtgga
     3361 gccggaatcc agactttagt gatctgactc cagggcctgt gctcttgtcc accatgctct
     3421 gctgccctgc aatgtaaaac atcctccaga aaaaaaataa ataaataaaa acttccctga
     3481 tg
//
