LOCUS       NM_002769                809 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens serine protease 1 (PRSS1), transcript variant 1, mRNA.
ACCESSION   NM_002769
VERSION     NM_002769.5
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 809)
  AUTHORS   Fu,D., Blobner,B.M., Greer,P.J., Lafyatis,R., Bellin,M.D. and
            Whitcomb,D.C.
  CONSRTM   Prospective Autos Study; GREAT1 Study; North American Pancreatitis
            Study Group
  TITLE     Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters T-Cell
            Receptor Beta (TRB) Repertoire More Strongly Than PRSS1 Expression
  JOURNAL   Gastroenterology 164 (2), 289-292 (2023)
   PUBMED   36191639
  REMARK    GeneRIF: Pancreatitis-Associated PRSS1-PRSS2 Haplotype Alters
            T-Cell Receptor Beta (TRB) Repertoire More Strongly Than PRSS1
            Expression.
REFERENCE   2  (bases 1 to 809)
  AUTHORS   Samgina,T.A.
  TITLE     [Influence of environmental factors and polymorphic loci rs6580502
            of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the
            CFTR gene on the risk of developing acute alcoholic-alimentary
            pancreatitis]
  JOURNAL   Vopr Pitan 92 (1), 85-91 (2023)
   PUBMED   36883543
  REMARK    GeneRIF: [Influence of environmental factors and polymorphic loci
            rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene,
            rs213950 of the CFTR gene on the risk of developing acute
            alcoholic-alimentary pancreatitis].
REFERENCE   3  (bases 1 to 809)
  AUTHORS   Thiel,F., Reiser,M. and Weiss,F.U.
  TITLE     A rare PRSS1 p.S127C mutation is associated with chronic
            pancreatitis and causes misfolding-induced ER-stress
  JOURNAL   Pancreatology 22 (8), 1112-1119 (2022)
   PUBMED   36369231
  REMARK    GeneRIF: A rare PRSS1 p.S127C mutation is associated with chronic
            pancreatitis and causes misfolding-induced ER-stress.
REFERENCE   4  (bases 1 to 809)
  AUTHORS   Zou,W.B., Cooper,D.N., Masson,E., Pu,N., Liao,Z., Ferec,C. and
            Chen,J.M.
  TITLE     Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with
            pancreatitis risk across genetic and transgenic studies: a
            systematic review and re-analysis
  JOURNAL   Hum Genet 141 (8), 1327-1338 (2022)
   PUBMED   35089416
  REMARK    GeneRIF: Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with
            pancreatitis risk across genetic and transgenic studies: a
            systematic review and re-analysis.
            Review article
REFERENCE   5  (bases 1 to 809)
  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   6  (bases 1 to 809)
  AUTHORS   Shelton,C., Solomon,S., LaRusch,J. and Whitcomb,D.C.
  TITLE     PRSS1-Related Hereditary Pancreatitis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22379635
REFERENCE   7  (bases 1 to 809)
  AUTHORS   Yamamoto,K.K., Pousette,A., Chow,P., Wilson,H., el Shami,S. and
            French,C.K.
  TITLE     Isolation of a cDNA encoding a human serum marker for acute
            pancreatitis. Identification of pancreas-specific protein as
            pancreatic procarboxypeptidase B
  JOURNAL   J Biol Chem 267 (4), 2575-2581 (1992)
   PUBMED   1370825
REFERENCE   8  (bases 1 to 809)
  AUTHORS   Kimland,M., Russick,C., Marks,W.H. and Borgstrom,A.
  TITLE     Immunoreactive anionic and cationic trypsin in human serum
  JOURNAL   Clin Chim Acta 184 (1), 31-46 (1989)
   PUBMED   2598466
REFERENCE   9  (bases 1 to 809)
  AUTHORS   Shieh,B.H. and Travis,J.
  TITLE     The reactive site of human alpha 2-antiplasmin
  JOURNAL   J Biol Chem 262 (13), 6055-6059 (1987)
   PUBMED   2437112
REFERENCE   10 (bases 1 to 809)
  AUTHORS   Emi,M., Nakamura,Y., Ogawa,M., Yamamoto,T., Nishide,T., Mori,T. and
            Matsubara,K.
  TITLE     Cloning, characterization and nucleotide sequences of two cDNAs
            encoding human pancreatic trypsinogens
  JOURNAL   Gene 41 (2-3), 305-310 (1986)
   PUBMED   3011602
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP321999.1, BC128226.1 and
            CA948204.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002769.4.
            
            Summary: This gene encodes a trypsinogen, which is a member of the
            trypsin family of serine proteases. This enzyme is secreted by the
            pancreas and cleaved to its active form in the small intestine. It
            is active on peptide linkages involving the carboxyl group of
            lysine or arginine. Mutations in this gene are associated with
            hereditary pancreatitis. This gene and several other trypsinogen
            genes are localized to the T cell receptor beta locus on chromosome
            7. [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 :: BC128226.1, M22612.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311737.12/ ENSP00000308720.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                BP321999.1         5-27
            24-796              BC128226.1         24-796
            797-809             CA948204.1         283-295
FEATURES             Location/Qualifiers
     source          1..809
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..809
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /note="serine protease 1"
                     /db_xref="GeneID:5644"
                     /db_xref="HGNC:HGNC:9475"
                     /db_xref="MIM:276000"
     exon            1..53
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..757
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /EC_number="3.4.21.4"
                     /note="trypsinogen 1; trypsinogen A; TCR V beta 4.1;
                     cationic trypsinogen; nonfunctional trypsin 1; digestive
                     zymogen; beta-trypsin; protease, serine 1; pretrypsinogen
                     I; anionic trypsin I"
                     /codon_start=1
                     /product="serine protease 1 preproprotein"
                     /protein_id="NP_002760.1"
                     /db_xref="CCDS:CCDS5872.1"
                     /db_xref="GeneID:5644"
                     /db_xref="HGNC:HGNC:9475"
                     /db_xref="MIM:276000"
                     /translation="MNPLLILTFVAAALAAPFDDDDKIVGGYNCEENSVPYQVSLNSG
                     YHFCGGSLINEQWVVSAGHCYKSRIQVRLGEHNIEVLEGNEQFINAAKIIRHPQYDRK
                     TLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLISGWGNTASSGADYPDELQC
                     LDAPVLSQAKCEASYPGKITSNMFCVGFLEGGKDSCQGDSGGPVVCNGQLQGVVSWGD
                     GCAQKNKPGVYTKVYNYVKWIKNTIAANS"
     exon            54..213
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            214..467
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            468..604
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /inference="alignment:Splign:2.1.0"
     exon            605..809
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      788..793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /note="hexamer: AATAAA"
     polyA_site      809
                     /gene="PRSS1"
                     /gene_synonym="TRP1; TRY1; TRY4; TRYP1"
                     /note="major polyA site"
ORIGIN      
        1 acactctacc accatgaatc cactcctgat ccttaccttt gtggcagctg ctcttgctgc
       61 cccctttgat gatgatgaca agatcgttgg gggctacaac tgtgaggaga attctgtccc
      121 ctaccaggtg tccctgaatt ctggctacca cttctgtggt ggctccctca tcaacgaaca
      181 gtgggtggta tcagcaggcc actgctacaa gtcccgcatc caggtgagac tgggagagca
      241 caacatcgaa gtcctggagg ggaatgagca gttcatcaat gcagccaaga tcatccgcca
      301 cccccaatac gacaggaaga ctctgaacaa tgacatcatg ttaatcaagc tctcctcacg
      361 tgcagtaatc aacgcccgcg tgtccaccat ctctctgccc accgcccctc cagccactgg
      421 cacgaagtgc ctcatctctg gctggggcaa cactgcgagc tctggcgccg actacccaga
      481 cgagctgcag tgcctggatg ctcctgtgct gagccaggct aagtgtgaag cctcctaccc
      541 tggaaagatt accagcaaca tgttctgtgt gggcttcctt gagggaggca aggattcatg
      601 tcagggtgat tctggtggcc ctgtggtctg caatggacag ctccaaggag ttgtctcctg
      661 gggtgatggc tgtgcccaga agaacaagcc tggagtctac accaaggtct acaactatgt
      721 gaaatggatt aagaacacca tagctgccaa tagctaaagc ccccagtatc tcttcagtct
      781 ctataccaat aaagtgaccc tgttctcac
//
