LOCUS       NM_001836                937 bp    mRNA    linear   PRI 17-MAR-2024
DEFINITION  Homo sapiens chymase 1 (CMA1), transcript variant 1, mRNA.
ACCESSION   NM_001836
VERSION     NM_001836.5
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 937)
  AUTHORS   Morales-Maldonado,A., Humphry,M., Figg,N. and Clarke,M.C.
  TITLE     Human vascular smooth muscle cells utilise chymase for the atypical
            cleavage and activation of Interleukin-1beta
  JOURNAL   Atherosclerosis 390, 117308 (2024)
   PUBMED   37821269
  REMARK    GeneRIF: Human vascular smooth muscle cells utilise chymase for the
            atypical cleavage and activation of Interleukin-1beta.
REFERENCE   2  (bases 1 to 937)
  AUTHORS   Tsilioni,I. and Theoharides,T.C.
  TITLE     Recombinant SARS-CoV-2 Spike Protein Stimulates Secretion of
            Chymase, Tryptase, and IL-1beta from Human Mast Cells, Augmented by
            IL-33
  JOURNAL   Int J Mol Sci 24 (11), 9487 (2023)
   PUBMED   37298438
  REMARK    GeneRIF: Recombinant SARS-CoV-2 Spike Protein Stimulates Secretion
            of Chymase, Tryptase, and IL-1beta from Human Mast Cells, Augmented
            by IL-33.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 937)
  AUTHORS   Nishimura,H., Jin,D., Kinoshita,I., Taniuchi,M., Higashino,M.,
            Terada,T., Takai,S. and Kawata,R.
  TITLE     Increased Chymase-Positive Mast Cells in High-Grade Mucoepidermoid
            Carcinoma of the Parotid Gland
  JOURNAL   Int J Mol Sci 24 (9), 8267 (2023)
   PUBMED   37175975
  REMARK    GeneRIF: Increased Chymase-Positive Mast Cells in High-Grade
            Mucoepidermoid Carcinoma of the Parotid Gland.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 937)
  AUTHORS   Fairhurst-Hunter,Z., Walters,R.G., Zink,A., Lin,K., Guo,Y., Yu,C.,
            Lv,J., Li,L., Freitag,D.F., Chen,Z. and Millwood,I.Y.
  TITLE     Investigation into the Health Effects of Reduced Chymase Function
            Using Predicted Loss-of-Function Mutations in CMA1
  JOURNAL   J Cardiovasc Transl Res 15 (6), 1474-1476 (2022)
   PUBMED   35513594
  REMARK    GeneRIF: Investigation into the Health Effects of Reduced Chymase
            Function Using Predicted Loss-of-Function Mutations in CMA1.
REFERENCE   5  (bases 1 to 937)
  AUTHORS   Kinoshita,I., Jin,D., Higashino,M., Terada,T., Kurisu,Y., Takai,S.
            and Kawata,R.
  TITLE     Increase in Chymase-Positive Mast Cells in Recurrent Pleomorphic
            Adenoma and Carcinoma Ex Pleomorphic Adenoma of the Parotid Gland
  JOURNAL   Int J Mol Sci 22 (23), 12613 (2021)
   PUBMED   34884420
  REMARK    GeneRIF: Increase in Chymase-Positive Mast Cells in Recurrent
            Pleomorphic Adenoma and Carcinoma Ex Pleomorphic Adenoma of the
            Parotid Gland.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 937)
  AUTHORS   Mizutani,H., Schechter,N., Lazarus,G., Black,R.A. and Kupper,T.S.
  TITLE     Rapid and specific conversion of precursor interleukin 1 beta (IL-1
            beta) to an active IL-1 species by human mast cell chymase
  JOURNAL   J Exp Med 174 (4), 821-825 (1991)
   PUBMED   1919436
REFERENCE   7  (bases 1 to 937)
  AUTHORS   Urata,H., Kinoshita,A., Perez,D.M., Misono,K.S., Bumpus,F.M.,
            Graham,R.M. and Husain,A.
  TITLE     Cloning of the gene and cDNA for human heart chymase
  JOURNAL   J Biol Chem 266 (26), 17173-17179 (1991)
   PUBMED   1894611
REFERENCE   8  (bases 1 to 937)
  AUTHORS   Caughey,G.H., Zerweck,E.H. and Vanderslice,P.
  TITLE     Structure, chromosomal assignment, and deduced amino acid sequence
            of a human gene for mast cell chymase
  JOURNAL   J Biol Chem 266 (20), 12956-12963 (1991)
   PUBMED   2071582
REFERENCE   9  (bases 1 to 937)
  AUTHORS   Jenne,D.E. and Tschopp,J.
  TITLE     Angiotensin II-forming heart chymase is a mast-cell-specific enzyme
  JOURNAL   Biochem J 276 (Pt 2) (Pt 2), 567-568 (1991)
   PUBMED   2049082
REFERENCE   10 (bases 1 to 937)
  AUTHORS   Urata,H., Kinoshita,A., Misono,K.S., Bumpus,F.M. and Husain,A.
  TITLE     Identification of a highly specific chymase as the major
            angiotensin II-forming enzyme in the human heart
  JOURNAL   J Biol Chem 265 (36), 22348-22357 (1990)
   PUBMED   2266130
  REMARK    Erratum:[J Biol Chem 1991 Jun 25;266(18):12114]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069110.1, DQ082729.1,
            HY275608.1 and AL132800.4.
            
            On Nov 23, 2018 this sequence version replaced NM_001836.4.
            
            Summary: This gene encodes a chymotryptic serine proteinase that
            belongs to the peptidase family S1. It is expressed in mast cells
            and is thought to function in the degradation of the extracellular
            matrix, the regulation of submucosal gland secretion, and the
            generation of vasoactive peptides. In the heart and blood vessels,
            this protein, rather than angiotensin converting enzyme, is largely
            responsible for converting angiotensin I to the vasoactive peptide
            angiotensin II. Alternative splicing results in multiple variants.
            [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1163655.145526.1, M69136.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250378.7/ ENSP00000250378.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-428               BC069110.1         1-428
            429-493             DQ082729.1         383-447
            494-784             BC069110.1         494-784
            785-935             HY275608.1         32-182              c
            936-937             AL132800.4         62387-62388
FEATURES             Location/Qualifiers
     source          1..937
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..937
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /note="chymase 1"
                     /db_xref="GeneID:1215"
                     /db_xref="HGNC:HGNC:2097"
                     /db_xref="MIM:118938"
     exon            1..88
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..774
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /EC_number="3.4.21.39"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; chymase, heart; mast cell protease I; chymase,
                     mast cell; chymase 1 preproprotein transcript I; chymase 1
                     preproprotein transcript E; alpha-chymase; chymase 1, mast
                     cell"
                     /codon_start=1
                     /product="chymase isoform 1 preproprotein"
                     /protein_id="NP_001827.1"
                     /db_xref="CCDS:CCDS9630.1"
                     /db_xref="GeneID:1215"
                     /db_xref="HGNC:HGNC:2097"
                     /db_xref="MIM:118938"
                     /translation="MLLLPLPLLLFLLCSRAEAGEIIGGTECKPHSRPYMAYLEIVTS
                     NGPSKFCGGFLIRRNFVLTAAHCAGRSITVTLGAHNITEEEDTWQKLEVIKQFRHPKY
                     NTSTLHHDIMLLKLKEKASLTLAVGTLPFPSQFNFVPPGRMCRVAGWGRTGVLKPGSD
                     TLQEVKLRLMDPQACSHFRDFDHNLQLCVGNPRKTKSAFKGDSGGPLLCAGVAQGIVS
                     YGRSDAKPPAVFTRISHYRPWINQILQAN"
     exon            89..239
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            240..375
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            376..630
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /inference="alignment:Splign:2.1.0"
     exon            631..937
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      916..921
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /note="hexamer: AATAAA"
     polyA_site      937
                     /gene="CMA1"
                     /gene_synonym="chymase; CYH; MCT1"
                     /note="major polyA site"
ORIGIN      
        1 agcatttgct caggcagcct ctctgggaag atgctgcttc ttcctctccc cctgctgctc
       61 tttctcttgt gctccagagc tgaagctggg gagatcatcg ggggcacaga atgcaagcca
      121 cattcccgcc cctacatggc ctacctggaa attgtaactt ccaacggtcc ctcaaaattt
      181 tgtggtggtt tccttataag acggaacttt gtgctgacgg ctgctcattg tgcaggaagg
      241 tctataacag tcacccttgg agcccataac ataacagagg aagaagacac atggcagaag
      301 cttgaggtta taaagcaatt ccgtcatcca aaatataaca cttctactct tcaccacgat
      361 atcatgttac taaagttgaa ggagaaagcc agcctgaccc tggctgtggg gacactcccc
      421 ttcccatccc aattcaactt tgtcccacct gggagaatgt gccgggtggc tggctgggga
      481 agaacaggtg tgttgaagcc gggctcagac actctgcaag aggtgaagct gagactcatg
      541 gatccccagg cctgcagcca cttcagagac tttgaccaca atcttcagct gtgtgtgggc
      601 aatcccagga agacaaaatc tgcatttaag ggagactctg ggggccctct tctgtgtgct
      661 ggggtggccc agggcatcgt atcctatgga cggtcggatg caaagccccc tgctgtcttc
      721 acccgaatct cccattaccg gccctggatc aaccagatcc tgcaggcaaa ttaatcctgg
      781 atcctgagcc agcctgaaag ggaagctgga actggacctg agcagcaaag tgtgtgccac
      841 tcattctggt ctacccttgg tccctcagcc acaaccctaa gcctccagaa gtatcctaca
      901 ggtcacagaa ctctcaataa acctcagtga agacaca
//
