LOCUS       NM_003294               1166 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.
ACCESSION   NM_003294 NM_003293 XM_001720738 XM_001720740
VERSION     NM_003294.4
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 1166)
  AUTHORS   Gonzalez-de-Olano,D., Navarro-Navarro,P., Munoz-Gonzalez,J.I.,
            Sanchez-Munoz,L., Henriques,A., de-Andres-Martin,A.,
            Peralta-Arjonilla,D., Mayado,A., Jara-Acevedo,M.,
            Garcia-Montero,A.C., Orfao,A. and Alvarez-Twose,I.
  TITLE     Clinical impact of the TPSAB1 genotype in mast cell diseases: A
            REMA study in a cohort of 959 individuals
  JOURNAL   Allergy 79 (3), 711-723 (2024)
   PUBMED   37818990
  REMARK    GeneRIF: Clinical impact of the TPSAB1 genotype in mast cell
            diseases: A REMA study in a cohort of 959 individuals.
REFERENCE   2  (bases 1 to 1166)
  AUTHORS   Lyons,J.J., Chovanec,J., O'Connell,M.P., Liu,Y., Selb,J.,
            Zanotti,R., Bai,Y., Kim,J., Le,Q.T., DiMaggio,T., Schwartz,L.B.,
            Komarow,H.D., Rijavec,M., Carter,M.C., Milner,J.D., Bonadonna,P.,
            Metcalfe,D.D. and Korosec,P.
  TITLE     Heritable risk for severe anaphylaxis associated with increased
            alpha-tryptase-encoding germline copy number at TPSAB1
  JOURNAL   J Allergy Clin Immunol 147 (2), 622-632 (2021)
   PUBMED   32717252
  REMARK    GeneRIF: Heritable risk for severe anaphylaxis associated with
            increased alpha-tryptase-encoding germline copy number at TPSAB1.
REFERENCE   3  (bases 1 to 1166)
  AUTHORS   Greiner,G., Sprinzl,B., Gorska,A., Ratzinger,F., Gurbisz,M.,
            Witzeneder,N., Schmetterer,K.G., Gisslinger,B., Uyanik,G.,
            Hadzijusufovic,E., Esterbauer,H., Gleixner,K.V., Krauth,M.T.,
            Pfeilstocker,M., Keil,F., Gisslinger,H., Nedoszytko,B.,
            Niedoszytko,M., Sperr,W.R., Valent,P. and Hoermann,G.
  TITLE     Hereditary alpha tryptasemia is a valid genetic biomarker for
            severe mediator-related symptoms in mastocytosis
  JOURNAL   Blood 137 (2), 238-247 (2021)
   PUBMED   32777817
  REMARK    GeneRIF: Hereditary alpha tryptasemia is a valid genetic biomarker
            for severe mediator-related symptoms in mastocytosis.
REFERENCE   4  (bases 1 to 1166)
  AUTHORS   Alanazi,S., Grujic,M., Lampinen,M., Rollman,O., Sommerhoff,C.P.,
            Pejler,G. and Melo,F.R.
  TITLE     Mast Cell beta-Tryptase Is Enzymatically Stabilized by DNA
  JOURNAL   Int J Mol Sci 21 (14), 5065 (2020)
   PUBMED   32709152
  REMARK    GeneRIF: Mast Cell beta-Tryptase Is Enzymatically Stabilized by
            DNA.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1166)
  AUTHORS   Le,Q.T., Lyons,J.J., Naranjo,A.N., Olivera,A., Lazarus,R.A.,
            Metcalfe,D.D., Milner,J.D. and Schwartz,L.B.
  TITLE     Impact of naturally forming human alpha/beta-tryptase
            heterotetramers in the pathogenesis of hereditary alpha-tryptasemia
  JOURNAL   J Exp Med 216 (10), 2348-2361 (2019)
   PUBMED   31337736
  REMARK    GeneRIF: Allosteric effects of alpha-tryptase protomers on
            neighboring beta-tryptase protomers likely result in the novel
            substrate repertoire of alpha/beta-tryptase tetramers that in turn
            cause some of the clinical features of hereditary alpha-tryptasemia
            and of other disorders involving mast cells.
REFERENCE   6  (bases 1 to 1166)
  AUTHORS   Miller,J.S., Moxley,G. and Schwartz,L.B.
  TITLE     Cloning and characterization of a second complementary DNA for
            human tryptase
  JOURNAL   J Clin Invest 86 (3), 864-870 (1990)
   PUBMED   2203827
REFERENCE   7  (bases 1 to 1166)
  AUTHORS   Vanderslice,P., Ballinger,S.M., Tam,E.K., Goldstein,S.M.,
            Craik,C.S. and Caughey,G.H.
  TITLE     Human mast cell tryptase: multiple cDNAs and genes reveal a
            multigene serine protease family
  JOURNAL   Proc Natl Acad Sci U S A 87 (10), 3811-3815 (1990)
   PUBMED   2187193
REFERENCE   8  (bases 1 to 1166)
  AUTHORS   Miller,J.S., Westin,E.H. and Schwartz,L.B.
  TITLE     Cloning and characterization of complementary DNA for human
            tryptase
  JOURNAL   J Clin Invest 84 (4), 1188-1195 (1989)
   PUBMED   2677049
REFERENCE   9  (bases 1 to 1166)
  AUTHORS   Schwartz,L.B., Bradford,T.R., Littman,B.H. and Wintroub,B.U.
  TITLE     The fibrinogenolytic activity of purified tryptase from human lung
            mast cells
  JOURNAL   J Immunol 135 (4), 2762-2767 (1985)
   PUBMED   3161948
REFERENCE   10 (bases 1 to 1166)
  AUTHORS   Schwartz,L.B., Lewis,R.A., Seldin,D. and Austen,K.F.
  TITLE     Acid hydrolases and tryptase from secretory granules of dispersed
            human lung mast cells
  JOURNAL   J Immunol 126 (4), 1290-1294 (1981)
   PUBMED   7009736
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_003294.3.
            
            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. These 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. The
            alleles of this gene exhibit an unusual amount of sequence
            variation, such that the alleles were once thought to represent two
            separate genes, alpha and beta 1. Beta tryptases appear to be the
            main isoenzymes expressed in mast cells; whereas in basophils,
            alpha tryptases predominate. Tryptases have been implicated as
            mediators in the pathogenesis of asthma and other allergic and
            inflammatory disorders. [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 :: GQ891538.1, ERR279844.60.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338844.8/ ENSP00000343577.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                AC120498.2         119634-119657
            25-85               AC120498.2         119868-119928
            86-257              AC120498.2         120082-120253
            258-523             AC120498.2         120363-120628
            524-687             AC120498.2         120756-120919
            688-1166            AC120498.2         121005-121483
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1166
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /note="tryptase alpha/beta 1"
                     /db_xref="GeneID:7177"
                     /db_xref="HGNC:HGNC:12019"
                     /db_xref="MIM:191080"
     exon            1..24
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..852
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /EC_number="3.4.21.59"
                     /note="tryptase beta I; tryptase alpha II; tryptase-III;
                     tryptase beta-1; tryptase alpha-1; mast cell beta I
                     tryptase; mast cell alpha II tryptase; tryptase-1;
                     Tryptase beta-2; Tryptase II; epididymis secretory sperm
                     binding protein; mast cell tryptase"
                     /codon_start=1
                     /product="tryptase alpha/beta-1 precursor"
                     /protein_id="NP_003285.2"
                     /db_xref="CCDS:CCDS10431.1"
                     /db_xref="GeneID:7177"
                     /db_xref="HGNC:HGNC:12019"
                     /db_xref="MIM:191080"
                     /translation="MLNLLLLALPVLASRAYAAPAPGQALQRVGIVGGQEAPRSKWPW
                     QVSLRVHGPYWMHFCGGSLIHPQWVLTAAHCVGPDVKDLAALRVQLREQHLYYQDQLL
                     PVSRIIVHPQFYTAQIGADIALLELEEPVNVSSHVHTVTLPPASETFPPGMPCWVTGW
                     GDVDNDERLPPPFPLKQVKVPIMENHICDAKYHLGAYTGDDVRIVRDDMLCAGNTRRD
                     SCQGDSGGPLVCKVNGTWLQAGVVSWGEGCAQPNRPGIYTRVTYYLDWIHHYVPKKP"
     exon            25..85
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /inference="alignment:Splign:2.1.0"
     exon            86..257
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /inference="alignment:Splign:2.1.0"
     exon            258..523
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /inference="alignment:Splign:2.1.0"
     exon            524..687
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /inference="alignment:Splign:2.1.0"
     exon            688..1166
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1147..1152
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /note="hexamer: ATTAAA"
     polyA_site      1166
                     /gene="TPSAB1"
                     /gene_synonym="TPS1; TPS2; TPSB1; TPSB2; Tryptase-2"
                     /note="major polyA site"
ORIGIN      
        1 tagaaggaac agggagcggc caggatgctg aatctgctgc tgctggcgct gcccgtcctg
       61 gcgagccgcg cctacgcggc ccctgcccca ggccaggccc tgcagcgagt gggcatcgtc
      121 gggggtcagg aggcccccag gagcaagtgg ccctggcagg tgagcctgag agtccacggc
      181 ccatactgga tgcacttctg cgggggctcc ctcatccacc cccagtgggt gctgaccgca
      241 gcgcactgcg tgggaccgga cgtcaaggat ctggccgccc tcagggtgca actgcgggag
      301 cagcacctct actaccagga ccagctgctg ccggtcagca ggatcatcgt gcacccacag
      361 ttctacaccg cccagatcgg agcggacatc gccctgctgg agctggagga gccggtgaac
      421 gtctccagcc acgtccacac ggtcaccctg ccccctgcct cagagacctt ccccccgggg
      481 atgccgtgct gggtcactgg ctggggcgat gtggacaatg atgagcgcct cccaccgcca
      541 tttcctctga agcaggtgaa ggtccccata atggaaaacc acatttgtga cgcaaaatac
      601 caccttggcg cctacacggg agacgacgtc cgcatcgtcc gtgacgacat gctgtgtgcc
      661 gggaacaccc ggagggactc atgccagggc gactccggag ggcccctggt gtgcaaggtg
      721 aatggcacct ggctgcaggc gggcgtggtc agctggggcg agggctgtgc ccagcccaac
      781 cggcctggca tctacacccg tgtcacctac tacttggact ggatccacca ctatgtcccc
      841 aaaaagccgt gagtcaggcc tgggttggcc acctgggtca ctggaggacc aacccctgct
      901 gtccaaaaca ccactgcttc ctacccaggt ggcgactgcc ccccacacct tccctgcccc
      961 gtcctgagtg ccccttcctg tcctaagccc cctgctctct tctgagcccc ttcccctgtc
     1021 ctgaggaccc ttccctatcc tgagccccct tccctgtcct aagcctgacg cctgcaccgg
     1081 gccctccagc cctcccctgc ccagatagct ggtggtgggc gctaatcctc ctgagtgctg
     1141 gacctcatta aagtgcatgg aaatca
//
