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TPSD1 Gene

protein-coding   GIFtS: 47
GCID: GC16P001307

Tryptase Delta 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tryptase Delta 11 2     mMCP-7-like-12
HmMCP-3-Like Tryptase III2 3     mMCP-7-like-22
EC 3.4.21.593 8     Mast Cell Tryptase2
MCP7L12 5     MMCP-7-Like Delta II Tryptase2
MMCP-7-LIKE-21     Tryptase Delta2
MMCP-7-Like I1     tryptase-32
MMCP-7-Like II1     Delta-tryptase3
MCP7-LIKE2     Tryptase-33
MMCP-7L2     Mast Cell MMCP-7-Like3
delta-tryptase2     EC 3.4.218

External Ids:    HGNC: 141181   Entrez Gene: 234302   Ensembl: ENSG000000959177   OMIM: 6092725   UniProtKB: Q9BZJ33   

Export aliases for TPSD1 gene to outside databases

Previous GC identifers: GC16P001322 GC16P001246 GC16P001235


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TPSD1 Gene:
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)

GeneCards Summary for TPSD1 Gene:
TPSD1 (tryptase delta 1) is a protein-coding gene. Diseases associated with TPSD1 include asthma. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is PRSS46.

UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3
Function: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled
activation-degranulation response of this cell type (By similarity)

Gene Wiki entry for TPSD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TPSD1 gene promoter:
         Bach1   CREB   AhR   CP2   deltaCREB   ATF-2   ZIC2/Zic2   XBP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPSD1 promoter sequence
   Search Chromatin IP Primers for TPSD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPSD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TPSD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPSD1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001307:  view genomic region     (about GC identifiers)

Start:
1,306,060 bp from pter      End:
1,308,532 bp from pter
Size:
2,473 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3 (See protein sequence)
Recommended Name: Tryptase delta precursor  
Size: 242 amino acids; 26584 Da
Subunit: Homotetramer (By similarity)
Caution: Although PubMed:11174199 reported this as a pseudogene, PubMed:12391231 showed it is expressed and has
proteolytic activity when expressed in bacterial cells
Sequence caution: Sequence=AAD17861.1; Type=Erroneous initiation; Sequence=AAK12909.1; Type=Erroneous initiation;
Secondary accessions: O95824 Q8TDI6 Q96L36 Q96RZ5 Q9H2Y6 Q9UQI8
Alternative splicing: 2 isoforms:  Q9BZJ3-1   Q9BZJ3-2   

Explore the universe of human proteins at neXtProt for TPSD1: NX_Q9BZJ3

Explore proteomics data for TPSD1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn139
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPSD1 (Q9BZJ3) (see all 15)
     CWVTGWG  DIALLEL  SGGPLVC  GDSGGPL 


    See TPSD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036349.1  
    ENSEMBL proteins: 
     ENSP00000380668   ENSP00000211076  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry Q9BZJ3

    ProtoNet protein and cluster: Q9BZJ3

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3
    Similarity: Belongs to the peptidase S1 family. Tryptase subfamily
    Similarity: Contains 1 peptidase S1 domain


    TPSD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRYD_HUMAN, Q9BZJ3
    Function: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled
    activation-degranulation response of this cell type (By similarity)
    Catalytic activity: Preferential cleavage: Arg- -Xaa, Lys- -Xaa, but with more restricted specificity than trypsin

         Enzyme Numbers (IUBMB): EC 3.4.21.591 2 EC 3.4.212

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0008236serine-type peptidase activity TAS9920877
         
    TPSD1 for ontologies           About GeneDecksing


    Animal Models:
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    hsa-mir-1 (MIRT023846)

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    2 qRT-PCR Assays for microRNAs that regulate TPSD1:
    hsa-miR-455-3p hsa-miR-3147
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TRYD_HUMAN, Q9BZJ3: Secreted (By similarity). Note=Released from the secretory granules upon mast cell
    activation (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    lysosome2
    vacuole2
    endoplasmic reticulum1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    TPSD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TPSD1
    Interactions:

        Search GeneGlobe Interaction Network for TPSD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TPSD1 (ENSP000002110764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPINA11ENSP000003350244STRING: ENSP00000335024
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    TPSD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for TPSD1 (TRYD)

    2 HMDB Compounds for TPSD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Kinetensin 1-3Ile-Ala-Arg;KT(1-3) ----
    Kinetensin 4-8KT(4-8);Arg-His-Pro-Tyr-Phe 51833-69-3--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TPSD1 gene: 
    NM_012217.2  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397534(uc010brm.1 uc002clb.1) ENST00000211076
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate TPSD1:
    hsa-miR-455-3p hsa-miR-3147
    SwitchGear 3'UTR luciferase reporter plasmidTPSD1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TPSD1
      QuantiFast Probe-based Assays in human, mouse, rat TPSD1

    Selected AceView cDNA sequences (see all 124):

    M33491 BM708916 NM_012217 AF206664 NM_003294 AI799627 BU073263 BQ721078 
    BV183386 BG983221 BC074975 BQ082929 BI763525 S55551 BC038416 BV207480 
    BV207484 CR541836 BV207482 M33492 AF421357 BI821011 BV185679 BU787497 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPSD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTGCGG
    TPSD1 Expression
    About this image


    TPSD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Bone Marrow
    TPSD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPSD1 Protein Expression

    UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3
    Tissue specificity: Expressed in colon, lung, heart and synovial tissue. May be specific to mast cells

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TPSD1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    32(a)
    31(a)
    many ↔ many
    many ↔ many
    GL343253.1(1843088-1847017)
    GL343287.1(1454751-1470659)
            Species with no ortholog for TPSD1

    ENSEMBL Gene Tree for TPSD1 (if available)
    TreeFam Gene Tree for TPSD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPSD1 gene
    PRSS462  PRSS482  PRSS222  PRSS272  TMPRSS92  PRSS212  PRSS452  TPSG12  
    PRSS382  TPSAB12  PRSS532  PRSS502  PRSS422  PRSS362  PRSS332  PRSS82  
    TPSB22  
    Selected SIMAP similar genes for TPSD1 using alignment to 1 protein entry:     TRYD_HUMAN(see all similar genes):
    TPSAB1    TPSB2    tryptaseB    tryptaseC    PRSS29P    TPSG1
    PRSS45    CELA1    CELA2B    ELA2B    PRSS33    CELA2A
    CELA3A    CTRB1    CTRB2    ELA3A    OVCH1    PRSS22

    TPSD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPSD1 (see all 284)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744701131,2
    Cuntested11306918(+) CAGACC/TGGGGC 2 T syn11Minor allele frequency- T:0.50NA 2
    rs1159058531,2
    F--1237895(+) CCGTCA/GCTGTG 1 -- ds50011Minor allele frequency- G:0.02WA 118
    rs1133424811,2
    C,F--1237920(+) TGTCAC/TGGGGG 1 -- ds50011Minor allele frequency- T:0.22NA 120
    rs99367821,2
    C,F--1237947(+) TGTCTC/TGGGGC 1 -- ds50017Minor allele frequency- T:0.19NA CSA WA EA 365
    rs727754691,2
    --1237970(+) TGCGGA/GGTCCT 1 -- ds50010--------
    rs712792061,2
    C--1240314(-) GCGCGA/TCCTGG 1 -- us2k12Minor allele frequency- T:0.25NA 4
    rs2008454211,2
    C--1304577(+) TGCCTC/GTCCCC 1 -- us2k10--------
    rs24019441,2
    C,H--1304642(-) GTTTGA/GGGCTG 1 -- us2k1 tfbs32Minor allele frequency- G:0.00NA 4
    rs764781811,2
    C--1304686(+) AGCCCT/CGGAGT 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs24019431,2
    C,F--1304744(-) TCCTCC/TGCTTC 1 -- us2k14Minor allele frequency- T:0.40NA 10

    HapMap Linkage Disequilibrium report for TPSD1 (1306060 - 1308532 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TPSD1 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750310CNV Deletion23290073
    esv2422427CNV Duplication17116639
    nsv515770CNV Loss19592680
    nsv833117CNV Loss17160897
    nsv904954CNV Loss21882294
    nsv904950CNV Loss21882294
    nsv103222CNV Loss16902084
    dgv2527n71CNV Loss21882294
    nsv523308CNV Loss19592680
    nsv471066CNV Loss18288195

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609272    OMIM disorders: --

    1 disease for TPSD1:    
    About MalaCards
    asthma


    TPSD1 for disorders           About GeneDecksing


    Export disorders for TPSD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TPSD1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with TPSD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. (PubMed id 9920877)1, 2, 3 Pallaoro M.... Caughey G.H. (J. Biol. Chem. 1999)
    2. Delta tryptase is expressed in multiple human tissues, and a recombinant form has proteolytic activity. (PubMed id 12391231)1, 2, 9 Wang H.-W.... Hunt J.E. (J. Immunol. 2002)
    3. Alternate mRNA splicing in multiple human tryptase genes is predicted to regulate tetramer formation. (PubMed id 18854315)1, 2 Jackson N.E....Hunt J.E. (J. Biol. Chem. 2008)
    4. Human mouse mast cell protease 7-like tryptase genes are pseudogenes. (PubMed id 11174199)1, 2 Min H.-K.... Schwartz L.B. (J. Allergy Clin. Immunol. 2001)
    5. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    6. Chimerism, point mutation, and truncation dramatically transformed mast cell delta-tryptases during primate evolution. (PubMed id 18325577)1, 9 Trivedi N.N....Caughey G.H. (J. Allergy Clin. Immunol. 2008)
    7. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PubMed id 19748655)1 Trivedi N.N.... Caughey G.H. (J. Allergy Clin. Immunol. 2009)
    8. Mast cell alpha and beta tryptases changed rapidly during primate speciation and evolved from gamma-like transmembrane peptidases in ancestral vertebrates. (PubMed id 17947681)1 Trivedi N.N....Caughey G.H. (J. Immunol. 2007)
    9. Tryptase genetics and anaphylaxis. (PubMed id 16751005)1 Caughey G.H. (J. Allergy Clin. Immunol. 2006)
    10. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23430 HGNC: 14118 AceView: TPS1 Ensembl:ENSG00000095917 euGenes: HUgn23430
    ECgene: TPSD1 H-InvDB: TPSD1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPSD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TPSD1 gene:
    Search GeneIP for patents involving TPSD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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