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TPSG1 Gene

protein-coding   GIFtS: 49
GCID: GC16M001271

Tryptase Gamma 1

  See TPSG1-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 Gamma 11 2     Lung Tryptase2
TMT2 3 5     Mast Cell Protease II2
Tryptase Gamma I1 2     Mast Cell Tryptase2
Tryptase Gamma II1 2     Pituitary Tryptase2
Serine Protease 312 3     Skin Tryptase2
Transmembrane Tryptase2 3     trpA2
PRSS312 3     Tryptase Gamma2
Gamma I2     EC 3.4.21.-3
Gamma II2     EC 3.4.218

External Ids:    HGNC: 141341   Entrez Gene: 258232   Ensembl: ENSG000001161767   OMIM: 6093415   UniProtKB: Q9NRR23   

Export aliases for TPSG1 gene to outside databases

Previous GC identifers: GC16M001288 GC16M001212 GC16M001208 GC16M001213 GC16M001204


(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 TPSG1 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. There is uncertainty regarding the number
of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been
identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma
I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells;
whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene
family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been
implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. (provided by
RefSeq, Jul 2008)

GeneCards Summary for TPSG1 Gene:
TPSG1 (tryptase gamma 1) is a protein-coding gene. Diseases associated with TPSG1 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.

Gene Wiki entry for TPSG1 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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RefSeq DNA sequence:
NC_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPSG1 gene promoter:
         AhR   Pax-5   HNF-1   ATF-2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPSG1 promoter sequence
   Search Chromatin IP Primers for TPSG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPSG1


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

TPSG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPSG1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001271:  view genomic region     (about GC identifiers)

Start:
1,271,651 bp from pter      End:
1,275,257 bp from pter
Size:
3,607 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: TRYG1_HUMAN, Q9NRR2 (See protein sequence)
Recommended Name: Tryptase gamma precursor  
Size: 321 amino acids; 33815 Da
Secondary accessions: Q96RZ8 Q9C015 Q9NRQ8 Q9UBB2

Explore the universe of human proteins at neXtProt for TPSG1: NX_Q9NRR2

Explore proteomics data for TPSG1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn85
  • Selected DME Specific Peptides for TPSG1 (Q9NRR2) (see all 5)
     CWVTGWG  LTAAHCF  VLTAAHC  WVLTAAH 


    See TPSG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036599.3  
    ENSEMBL proteins: 
     ENSP00000234798  

    TPSG1 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    PRSS: Serine peptidases / Serine peptidases

    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 Q9NRR2

    ProtoNet protein and cluster: Q9NRR2

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


    UniProtKB/Swiss-Prot: TRYG1_HUMAN, Q9NRR2
    Similarity: Belongs to the peptidase S1 family. Tryptase subfamily
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with TPSG1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.-1

         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 TAS10521469
         
    Find genes that share ontologies with TPSG1           About GenesLikeMe


    Animal Models:
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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
    TRYG1_HUMAN, Q9NRR2: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS10521469

    Find genes that share ontologies with TPSG1           About GenesLikeMe


    (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 TPSG1
    Interactions:

        Search GeneGlobe Interaction Network for TPSG1

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

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

    Find genes that share ontologies with TPSG1           About GenesLikeMe



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for TPSG1 (TRYG1)

    1 Novoseek inferred chemical compound relationship for TPSG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 53.5 7 12194977 (1), 16815034 (1), 17498058 (1)



    Find genes that share compounds with TPSG1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TPSG1 gene: 
    NM_012467.3  

    Unigene Cluster for TPSG1:

    Tryptase gamma 1
    Hs.592076  [show with all ESTs]
    Unigene Representative Sequence: NM_012467
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234798(uc002ckw.2) ENST00000564684
    miRNA
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    hsa-miR-3658 hsa-miR-3653
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      QuantiTect SYBR Green Assays in human, mouse, rat TPSG1
      QuantiFast Probe-based Assays in human, mouse, rat TPSG1

    3 DOTS entries:

    DT.106240  DT.92423330  DT.95329487 

    3 AceView cDNA sequences:

    NM_012467 AF175522 BG953129 

    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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    TPSG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTGCCC
    TPSG1 Expression
    About this image

    TPSG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPSG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592076

    UniProtKB/Swiss-Prot: TRYG1_HUMAN, Q9NRR2
    Tissue specificity: Expressed in many tissues

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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 TPSG1 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpsg11 , 5 tryptase gamma 11, 5 76.34(n)1
    73.38(a)1
      17 (12.53 cM)5
    269451  NM_012034.31  NP_036164.21 
     253692735 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    40(a)
    many ↔ many
    GL343287.1(1596059-1605349)


    ENSEMBL Gene Tree for TPSG1 (if available)
    TreeFam Gene Tree for TPSG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPSG1 gene
    PRSS462  PRSS482  PRSS222  PRSS272  TMPRSS92  PRSS212  PRSS452  TPSD12  
    PRSS382  TPSAB12  PRSS532  PRSS502  PRSS422  PRSS362  PRSS332  PRSS82  
    TPSB22  
    Selected SIMAP similar genes for TPSG1 using alignment to 2 protein entries:     TRYG1_HUMAN (see all proteins) (see all similar genes):
    TPSB2    TPSAB1    tryptaseC    PRSS22    PRSS45    F12
    TMPRSS3    TMPRSS11B    TPSD1    CELA2B    PRSS27    TMPRSS4
    tryptaseB    TMPRSS5    CELA3A    PRSS33    PRSS1    DKFZp779M0222

    Find genes that share paralogs with TPSG1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TPSG1
    PGOHUM00000262310


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TRYG1_HUMAN, Q9NRR2: There are two alleles; gamma-I and gamma-II which differ by 5 residues


    Selected SNPs for TPSG1 (see all 280)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1431200591,2
    C,F--1272275(+) CCCGGC/TGGCAG 2 H R mis11Minor allele frequency- T:0.06EU 837
    rs1995159261,2
    C--1272276(+) CCGGCA/GGCAGG 2 R C mis10--------
    rs1460817041,2
    C,F--1272298(+) ACCACG/AGAGAC 2 /S syn12Minor allele frequency- A:0.01NA EU 3343
    rs2005198161,2
    C--1272306(+) GACTTC/TCACCT 2 K E mis10--------
    rs1999448291,2
    C--1272314(+) CCTCCC/TGCAGG 2 Q R mis10--------
    rs1997796841,2
    C--1272315(+) CTCCCA/GCAGGC 2 R W mis10--------
    rs3703033611,2
    C--1272320(+) GCAGGC/TTGTAC 2 N S mis10--------
    rs1482785211,2
    C--1272326(+) TGTACA/GGGGGT 2 P L mis10--------
    rs1997822741,2
    C--1272327(+) GTACGG/AGGGTG 2 /P /S mis11Minor allele frequency- A:0.00EU 1285
    rs2021076901,2
    C,F--1272329(+) ACGGGG/AGTGGC 2 /P /L mis11Minor allele frequency- A:0.00EU 1293

    HapMap Linkage Disequilibrium report for TPSG1 (1271651 - 1275257 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TPSG1 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    nsv833117CNV Loss17160897
    nsv904954CNV Loss21882294
    nsv904950CNV Loss21882294
    dgv2522n71CNV Loss21882294
    nsv471066CNV Loss18288195
    dgv2526n71CNV Loss21882294
    dgv2505n71CNV Loss21882294
    dgv2514n71CNV Loss21882294
    dgv2520n71CNV Loss21882294

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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: 609341    OMIM disorders: --

    1 disease for TPSG1:    
    About MalaCards
    asthma

    1 disease from the University of Copenhagen DISEASES database for TPSG1:
    Pleomorphic adenoma

    Find genes that share disorders with TPSG1           About GenesLikeMe


    Export disorders for TPSG1 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 TPSG1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with TPSG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new member of the tryptase family of mouse and human mast cell proteases which possesses a novel COOH-terminal hydrophobic extension. (PubMed id 10521469)1, 2, 3, 9 Wong G.W.... Stevens R.L. (J. Biol. Chem. 1999)
    2. 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)
    3. Characterization of human gamma-tryptases, novel members of the chromosome 16p mast cell tryptase and prostasin gene families. (PubMed id 10843716)1, 2 Caughey G.H.... Verghese G.M. (J. Immunol. 2000)
    4. Biochemical and functional characterization of human transmembrane tryptase (TMT)/tryptase gamma. TMT is an exocytosed mast cell protease that induces airway hyperresponsiveness in vivo via an interleukin-13/interleukin-4 receptor alpha/signal transducer and activator of transcription (STAT) 6-dependent pathway. (PubMed id 12194977)1, 9 Wong G.W....Stevens R.L. (J. Biol. Chem. 2002)
    5. Mast cell tryptase promotes breast cancer migration and invasion. (PubMed id 20126998)1 Xiang M....Yin L. (Oncol. Rep. 2010)
    6. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    7. New developments in the genetics and activation of mast cell proteases. (PubMed id 12217407)1 Caughey G.H. (Mol. Immunol. 2002)
    8. Cloning of the human homolog of mouse transmembrane tryptase. (PubMed id 10224463)9 Wong G.W....Stevens R.L. (Int. Arch. Allergy Immunol. 1999)
    9. Expression and characterization of recombinant gamma-tryptase. (PubMed id 16815034)9 Yuan J....Clark J.M. (Protein Expr. Purif. 2006)
    10. Protease-proteoglycan complexes of mouse and human mast cells and importance of their beta-tryptase-heparin complexes in inflammation and innate immunity. (PubMed id 17498058)9 Stevens R.L. and Adachi R. (Immunol. Rev. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25823 HGNC: 14134 AceView: TPSG1 Ensembl:ENSG00000116176 euGenes: HUgn25823
    ECgene: TPSG1 H-InvDB: TPSG1

    (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 TPSG1 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 TPSG1 gene:
    Search GeneIP for patents involving TPSG1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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