LOCUS       NM_012217               1573 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tryptase delta 1 (TPSD1), mRNA.
ACCESSION   NM_012217
VERSION     NM_012217.3
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 1573)
  AUTHORS   Tsuchiya,M., Fukushima,K., Takata,K., Ohashi,Y., Uchiyama,K.,
            Takahira,N., Saito,H., Tsukada,A., Inoue,G., Takaso,M. and
            Uchida,K.
  TITLE     Increase in TPSB2 and TPSD1 Expression in Synovium of Hip
            Osteoarthritis Patients Who Are Overweight
  JOURNAL   Int J Mol Sci 24 (14), 11532 (2023)
   PUBMED   37511292
  REMARK    GeneRIF: Increase in TPSB2 and TPSD1 Expression in Synovium of Hip
            Osteoarthritis Patients Who Are Overweight.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1573)
  AUTHORS   Trivedi,N.N., Tamraz,B., Chu,C., Kwok,P.Y. and Caughey,G.H.
  TITLE     Human subjects are protected from mast cell tryptase deficiency
            despite frequent inheritance of loss-of-function mutations
  JOURNAL   J Allergy Clin Immunol 124 (5), 1099-105 (2009)
   PUBMED   19748655
REFERENCE   3  (bases 1 to 1573)
  AUTHORS   Jackson,N.E., Wang,H.W., Bryant,K.J., McNeil,H.P., Husain,A.,
            Liu,K., Tedla,N., Thomas,P.S., King,G.C., Hettiaratchi,A.,
            Cairns,J. and Hunt,J.E.
  TITLE     Alternate mRNA splicing in multiple human tryptase genes is
            predicted to regulate tetramer formation
  JOURNAL   J Biol Chem 283 (49), 34178-34187 (2008)
   PUBMED   18854315
REFERENCE   4  (bases 1 to 1573)
  AUTHORS   Trivedi,N.N., Raymond,W.W. and Caughey,G.H.
  TITLE     Chimerism, point mutation, and truncation dramatically transformed
            mast cell delta-tryptases during primate evolution
  JOURNAL   J Allergy Clin Immunol 121 (5), 1262-1268 (2008)
   PUBMED   18325577
REFERENCE   5  (bases 1 to 1573)
  AUTHORS   Trivedi,N.N., Tong,Q., Raman,K., Bhagwandin,V.J. and Caughey,G.H.
  TITLE     Mast cell alpha and beta tryptases changed rapidly during primate
            speciation and evolved from gamma-like transmembrane peptidases in
            ancestral vertebrates
  JOURNAL   J Immunol 179 (9), 6072-6079 (2007)
   PUBMED   17947681
REFERENCE   6  (bases 1 to 1573)
  AUTHORS   Caughey,G.H.
  TITLE     New developments in the genetics and activation of mast cell
            proteases
  JOURNAL   Mol Immunol 38 (16-18), 1353-1357 (2002)
   PUBMED   12217407
  REMARK    Review article
REFERENCE   7  (bases 1 to 1573)
  AUTHORS   Soto,D., Malmsten,C., Blount,J.L., Muilenburg,D.J. and Caughey,G.H.
  TITLE     Genetic deficiency of human mast cell alpha-tryptase
  JOURNAL   Clin Exp Allergy 32 (7), 1000-1006 (2002)
   PUBMED   12100045
REFERENCE   8  (bases 1 to 1573)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
REFERENCE   9  (bases 1 to 1573)
  AUTHORS   Min,H.K., Kambe,N. and Schwartz,L.B.
  TITLE     Human mouse mast cell protease 7-like tryptase genes are
            pseudogenes
  JOURNAL   J Allergy Clin Immunol 107 (2), 315-321 (2001)
   PUBMED   11174199
REFERENCE   10 (bases 1 to 1573)
  AUTHORS   Pallaoro,M., Fejzo,M.S., Shayesteh,L., Blount,J.L. and Caughey,G.H.
  TITLE     Characterization of genes encoding known and novel human mast cell
            tryptases on chromosome 16p13.3
  JOURNAL   J Biol Chem 274 (6), 3355-3362 (1999)
   PUBMED   9920877
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC120498.2.
            
            On Nov 26, 2018 this sequence version replaced NM_012217.2.
            
            Summary: Tryptases comprise a family of trypsin-like serine
            proteases, the peptidase family S1. Tryptases are enzymatically
            active only as heparin-stabilized tetramers, and they are resistant
            to all known endogenous proteinase inhibitors. Several tryptase
            genes are clustered on chromosome 16p13.3. These genes are
            characterized by several distinct features. They have a highly
            conserved 3' UTR and contain tandem repeat sequences at the 5'
            flank and 3' UTR which are thought to play a role in regulation of
            the mRNA stability. Although this gene may be an exception, most of
            the tryptase genes have an intron immediately upstream of the
            initiator Met codon, which separates the site of transcription
            initiation from protein coding sequence. This feature is
            characteristic of tryptases but is unusual in other genes.
            Tryptases have been implicated as mediators in the pathogenesis of
            asthma and other allergic and inflammatory disorders. This gene was
            once considered to be a pseudogene, although it is now believed to
            be a functional gene that encodes a 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 :: BC069143.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000211076.5/ ENSP00000211076.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-294               AC120498.2         134998-135291
            295-466             AC120498.2         135445-135616
            467-732             AC120498.2         135726-135991
            733-896             AC120498.2         136988-137151
            897-1573            AC120498.2         137261-137937
FEATURES             Location/Qualifiers
     source          1..1573
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1573
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /note="tryptase delta 1"
                     /db_xref="GeneID:23430"
                     /db_xref="HGNC:HGNC:14118"
                     /db_xref="MIM:609272"
     exon            1..294
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..941
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /EC_number="3.4.21.59"
                     /note="mast cell tryptase; mMCP-7-like-2; mMCP-7-like-1;
                     hmMCP-3-like tryptase III; mMCP-7-like delta II tryptase;
                     tryptase-3; delta-tryptase"
                     /codon_start=1
                     /product="tryptase delta precursor"
                     /protein_id="NP_036349.1"
                     /db_xref="CCDS:CCDS10432.1"
                     /db_xref="GeneID:23430"
                     /db_xref="HGNC:HGNC:14118"
                     /db_xref="MIM:609272"
                     /translation="MLLLAPQMLSLLLLALPVLASPAYVAPAPGQALQQTGIVGGQEA
                     PRSKWPWQVSLRVRGPYWMHFCGGSLIHPQWVLTAAHCVEPDIKDLAALRVQLREQHL
                     YYQDQLLPVSRIIVHPQFYIIQTGADIALLELEEPVNISSHIHTVTLPPASETFPPGM
                     PCWVTGWGDVDNNVHLPPPYPLKEVEVPVVENHLCNAEYHTGLHTGHSFQIVRDDMLC
                     AGSENHDSCQGDSGGPLVCKVNGT"
     exon            295..466
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /inference="alignment:Splign:2.1.0"
     exon            467..732
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /inference="alignment:Splign:2.1.0"
     exon            733..896
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1573
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1551..1556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /note="hexamer: ATTAAA"
     polyA_site      1573
                     /gene="TPSD1"
                     /gene_synonym="MCP7-LIKE; MCP7L1; MMCP-7L"
                     /note="major polyA site"
ORIGIN      
        1 agaaggaaca gggagtggcc agggtaagtc cctactctca gagaccctga catcagcgtc
       61 acctggagca gagtggccca gcctcagact cagagcacca agacccaggc ccgcaggcct
      121 ggacccaccc cggtcccccc gtcccagctc cattcttcac cccacaatct gtagccccca
      181 gccctgccct gtgaggcccg gccaggccca cgatgctcct ccttgctccc cagatgctga
      241 gcctgctgct gctggcgctg cccgtcctgg cgagcccggc ctacgtggcc cctgccccag
      301 gccaggccct gcagcaaacg ggcattgttg gggggcagga ggcccccagg agcaagtggc
      361 cctggcaggt gagcctgaga gtccgcggcc catactggat gcacttctgc gggggctccc
      421 tcatccaccc ccagtgggtg ctaaccgcgg cgcactgcgt ggaaccggac atcaaggatc
      481 tggccgccct cagggtgcaa ctgcgggagc agcacctcta ctaccaggac cagctgctgc
      541 cggtcagcag gatcatcgtg cacccacagt tctacatcat ccagaccggg gcggacatcg
      601 ccctgctgga gctggaggag cccgtgaaca tctccagcca catccacacg gtcacgctgc
      661 cccctgcctc ggagaccttc cccccgggga tgccgtgctg ggtcactggc tggggcgacg
      721 tggacaataa tgtgcacctg ccgccgccat acccgctgaa ggaggtggaa gtccccgtag
      781 tggaaaacca cctttgcaac gcggaatatc acaccggcct ccatacgggc cacagctttc
      841 aaatcgtccg cgatgacatg ctgtgtgcgg ggagcgaaaa tcacgactcc tgccagggtg
      901 actctggagg gcccctggtc tgcaaggtga atggcaccta actgcaggcg ggcgtggtca
      961 gctgggagga gagctgtgcc cagcccaacc ggcctggcat ctacacccgt gtcacctact
     1021 acttggactg gatccaccac tatgtcccca agaagccctg agccaggcct ggggtgtcca
     1081 cccgggtcac tggagggcca gcccctcctg tccaaaccac cactgcttcc tacccaggtg
     1141 gtgactgccc cccacacctt cccccatcct gagtcccctc tcccatcctg agccctgtcc
     1201 cctgtcctga gccccctccc ctttcttgat cccctccccc atcctgagcc cctcccccac
     1261 cctgagcccc ttcccctttc ttgagccccc tcccccaccc tgagccccct cccctttctt
     1321 gagtccctcc tccatcctga gccccctccc ctttcttgag tccctcctcc atcctgagcc
     1381 ccctcccctt tcttgagccc ctcctccatc ctgagccccc tcctccatcc tgccccctcc
     1441 tccatcctga gcctcctccc caaccctgaa tccgcccctc ccggcccctc cggccctccc
     1501 ctgcccaggc agctggtggt ggacgcccat cctctctagt gctgactctc attaaagtgc
     1561 atgatggaaa gca
//
