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TPSAB1 Gene

protein-coding   GIFtS: 62
GCID: GC16P001290

Tryptase Alpha/Beta 1

(Previous name: tryptase beta 1)
(Previous symbols: TPSB1, TPS1, TPS2)
  See TPSAB1-related diseases
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 Alpha/Beta 11 2     Tryptase I2 3
TPS11 2 3 5     EC 3.4.21.593 8
TPS21 2 3     tryptase-II1
TPSB11 2 3     Mast Cell Alpha II Tryptase2
Tryptase Beta 11 2     Mast Cell Beta I Tryptase2
Tryptase Alpha II1 2     Tryptase Alpha/Beta-12
Tryptase Beta I1 2     Tryptase Beta-12
tryptase-I1 2     tryptase-12
tryptase-III1 2     Tryptase-13
Tryptase Alpha-12 3     EC 3.4.218

External Ids:    HGNC: 120191   Entrez Gene: 71772   Ensembl: ENSG000001722367   OMIM: 1910805   UniProtKB: Q156613   

Export aliases for TPSAB1 gene to outside databases

Previous GC identifer: GC16P001233


(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 TPSAB1 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. 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)

GeneCards Summary for TPSAB1 Gene:
TPSAB1 (tryptase alpha/beta 1) is a protein-coding gene. Diseases associated with TPSAB1 include cutaneous mastocytosis, and candida glabrata. 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: TRYB1_HUMAN, Q15661
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 TPSAB1 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 at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TPSAB1 gene promoter:
         AhR   Pax-5   HNF-1   ATF-2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPSAB1 promoter sequence
   Search Chromatin IP Primers for TPSAB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TPSAB1


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

TPSAB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPSAB1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001290:  view genomic region     (about GC identifiers)

Start:
1,290,678 bp from pter      End:
1,292,555 bp from pter
Size:
1,878 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TRYB1_HUMAN, Q15661 (See protein sequence)
Recommended Name: Tryptase alpha/beta-1 precursor  
Size: 275 amino acids; 30515 Da
Subunit: Homotetramer. The active tetramer is converted to inactive monomers at neutral and acidic pH in the
absence of heparin. Low concentrations of inactive monomers become active monomers at pH 6.0 in the presence of
heparin. When the concentration of active monomers is higher, they convert to active monomers and then to active
tetramers. These monomers are active and functionally distinct from the tetrameric enzyme. In contrast to the
hidden active sites in the tetrameric form, the active site of the monomeric form is accessible for
macromolecular proteins and inhibitors eg: fibrinogen which is a substrate for the monomeric but not for the
tetrameric form. The monomeric form forms a complex with SERPINB6
Selected PDB 3D structures from and Proteopedia for TPSAB1 (see all 7):
1LTO (3D)        2F9N (3D)        2F9O (3D)        2F9P (3D)        2ZEB (3D)        2ZEC (3D)    
Secondary accessions: D2E6R9 D2E6S1 P15157 Q15663 Q6B052 Q9H2Y4 Q9H2Y5 Q9UQI1
Alternative splicing: 2 isoforms:  Q15661-1   Q15661-2   

Explore the universe of human proteins at neXtProt for TPSAB1: NX_Q15661

Explore proteomics data for TPSAB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn132, Asn233
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPSAB1 (Q15661) (see all 18)
     DIALLEL  VLTAAHC  WVLTAAH  CWVTGWG 


    See TPSAB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003285.2  
    ENSEMBL proteins: 
     ENSP00000343577   ENSP00000418247   ENSP00000456821  
    Reactome Protein details: Q15661

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    antibodies-online proteins for TPSAB1 (17 products) 

     
    antibodies-online peptides for TPSAB1

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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 Q15661

    ProtoNet protein and cluster: Q15661

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


    UniProtKB/Swiss-Prot: TRYB1_HUMAN, Q15661
    Similarity: Belongs to the peptidase S1 family. Tryptase subfamily
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with TPSAB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TRYB1_HUMAN, Q15661
    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity NAS2187193
    GO:0005515protein binding IPI17474147
    GO:0008236serine-type peptidase activity TAS2677049
         
    Find genes that share ontologies with TPSAB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TPSAB1:
     Decreased Hepatitis C virus re 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TPSAB1

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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
    TRYB1_HUMAN, Q15661: Secreted. Note=Released from the secretory granules upon mast cell activation (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome1
    vacuole1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with TPSAB1           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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    SuperPaths for TPSAB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    2Matrix Metalloproteinases
    Activation of Matrix Metalloproteinases0.37


    Find genes that share SuperPaths with TPSAB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for TPSAB1
        Activation of Matrix Metalloproteinases


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TPSAB1: 
              Cell Surface Markers in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TPSAB1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for TPSAB1 (Q156611, 3 ENSP000003435774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279861, 3, ENSP000002743354EBI-1761369,EBI-79464 I2D: score=1 STRING: ENSP00000274335
    NCK1P163331, 3, ENSP000002889864EBI-1761369,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    TPSB2P202313I2D: score=1 
    SERPINA11ENSP000003350244STRING: ENSP00000335024
    --ENSP000004208254STRING: ENSP00000420825
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006952defense response TAS2677049
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--

    Find genes that share ontologies with TPSAB1           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
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    Browse Tocris compounds for TPSAB1 (TRYB1)

    2 HMDB Compounds for TPSAB1    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--

    2 DrugBank Compounds for TPSAB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-(1'-{[3-(methylsulfanyl)-2-benzothiophen-1-yl]carbonyl}spiro[1-benzofuran-3,4'-piperidin]-5-yl)methanamine-- --target--10592235
    1-[1'-(3-phenylacryloyl)spiro[1-benzofuran-3,4'-piperidin]-5-yl]methanamine-- --target--10592235

    6 Novoseek inferred chemical compound relationships for TPSAB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trehalose 6-phosphate 81.8 5 19231283 (2), 15667326 (1), 16946258 (1), 16553896 (1)
    trehalose 59.9 5 15667326 (1), 18547390 (1), 19231283 (1), 16946258 (1)
    serine 53.1 3 16414069 (1), 18039527 (1), 11335723 (1)
    histamine 24.3 1 9404229 (1)
    sucrose 11.4 1 16553896 (1)
    heparin 4.01 2 16414069 (1)



    Find genes that share compounds with TPSAB1           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 TPSAB1 gene: 
    NM_003294.3  

    Unigene Cluster for TPSAB1:

    Tryptase alpha/beta 1
    Hs.405479  [show with all ESTs]
    Unigene Representative Sequence: BC038416
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338844(uc002ckz.3 uc010uux.2) ENST00000461509 ENST00000562432
    ENST00000561736
    miRNA
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    Additional mRNA sequence: 

    AF206665.1 AF206666.1 AF206667.1 BC028059.1 BC038416.1 BC051852.1 BC074974.2 BC074975.2 
    CR541836.1 FJ931118.1 M30038.1 M33491.1 M33493.1 

    5 DOTS entries:

    DT.75138719  DT.446428  DT.100749578  DT.98131726  DT.95273039 

    Selected AceView cDNA sequences (see all 124):

    AI799627 M33491 NM_003294 AF206664 NM_012217 BM708916 CD671891 CA425354 
    BU073263 BV207482 BC029356 CA438721 BC074974 BV207486 BF876081 BV207475 
    BV183386 BC038416 BI763525 AI801480 CR541836 M33492 BV200559 AF206667 

    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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    TPSAB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATCAAAA
    TPSAB1 Expression
    About this image


    TPSAB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
     
     Colon (Gastrointestinal Tract)
     
     Esophagus (Gastrointestinal Tract)
     
     Gall Bladder (Hepatobiliary System)
    TPSAB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPSAB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.405479
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TPSAB1: 
              Cell Surface Markers in human mouse rat
              Allergy & Asthma in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPSAB1

    (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 TPSAB1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tpsb21 tryptase beta 2 77.48(n)
    78.38(a)
      17229  NM_010781.3  NP_034911.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    39(a)
    34(a)
    many ↔ many
    many ↔ many
    GL343253.1(1843088-1847017)
    GL343287.1(1454751-1470659)


    ENSEMBL Gene Tree for TPSAB1 (if available)
    TreeFam Gene Tree for TPSAB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TPSAB1 gene
    TPSB21 2  PRSS462  PRSS482  PRSS222  PRSS272  TMPRSS92  PRSS212  PRSS452  
    TPSG12  TPSD12  PRSS382  PRSS532  PRSS502  PRSS422  PRSS362  PRSS332  
    PRSS82  
    Selected SIMAP similar genes for TPSAB1 using alignment to 5 protein entries:     TRYB1_HUMAN (see all proteins) (see all similar genes):
    TPSB2    tryptaseB    tryptaseC    TPSD1    MGC52282    PRSS29P
    TPSG1    PRSS22    PRSS45    PRSS27    CELA3A    DKFZp586F0824
    CELA2B    CELA2A    ELA2A    F2    TMPRSS5    PRSS42

    Find genes that share paralogs with TPSAB1           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for TPSAB1
    PGOHUM00000262265 PGOHUM00000262266 PGOHUM00000248694 PGOHUM00000262267 PGOHUM00000259804


    (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
    TRYB1_HUMAN, Q15661: There are two alleles alpha and beta-I. The sequence shown is that of allele beta-I


    Selected SNPs for TPSAB1 (see all 203)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1891635971,2
    --1288686(+) ATCAGA/GATGAG 1 -- us2k10--------
    rs1930689071,2
    --1288689(+) AGGATA/GAGTTT 1 -- us2k10--------
    rs37601231,2
    C,F,H--1288712(-) TCCCAA/GTCATT 1 -- us2k1 tfbs313Minor allele frequency- G:0.04NS EA NA 1704
    rs1845346441,2
    --1288726(+) AGAAAA/GAAATT 1 -- us2k10--------
    rs674228971,2
    C,F--1288794(+) AATAC-/AT/TA 
            
    AGTCT
    1 -- us2k12NA CSA 4
    rs587925991,2
    C--1288795(+) ATACA-/TAGTCTG 1 -- us2k10--------
    rs2011817241,2
    C--1288795(-) AGACTA/C/GTGTAT 1 -- us2k10--------
    rs1494657741,2
    --1288865(+) AACTGA/GATGGA 1 -- us2k10--------
    rs37601221,2
    C,F,A,H--1288881(-) CTGCGC/ATCAGG 1 -- us2k124Minor allele frequency- A:0.25EA NS NA WA CSA 3456
    rs38096401,2
    C,H--1289086(-) CCGATC/TCCCGG 1 -- us2k12Minor allele frequency- T:0.33NA CSA 3

    HapMap Linkage Disequilibrium report for TPSAB1 (1290678 - 1292555 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TPSAB1 (see all 30):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750309CNV Deletion23290073
    esv2750305CNV Deletion23290073
    esv2750310CNV Deletion23290073
    esv2671846CNV Deletion23128226
    dgv475e199CNV Deletion23128226
    esv2422427CNV Duplication17116639
    nsv833117CNV Loss17160897
    nsv904954CNV Loss21882294
    esv29040CNV Loss19812545
    nsv904950CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TPSAB1
    DNA2.0 Custom Variant and Variant Library Synthesis for TPSAB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191080    OMIM disorders: --

    5 diseases for TPSAB1:    
    About MalaCards
    cutaneous mastocytosis    candida glabrata    dengue shock syndrome    abdominal aortic aneurysm
    asthma


    Find genes that share disorders with TPSAB1           About GenesLikeMe

    3 Novoseek inferred disease relationships for TPSAB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mastocytosis 76.1 4 8675637 (1), 11696045 (1), 16751005 (1), 17873577 (1)
    mastocytosis systemic 67.5 3 8675637 (1), 8613553 (1)
    anaphylaxis 57.4 1 8675637 (1)

    Genetic Association Database (GAD): TPSAB1
    Human Genome Epidemiology (HuGE) Navigator: TPSAB1 (2 documents)

    Export disorders for TPSAB1 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 TPSAB1 gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with TPSAB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PubMed id 19748655)1, 2, 4 Trivedi N.N.... Caughey G.H. (J. Allergy Clin. Immunol. 2009)
    2. 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)
    3. Characterization of two highly polymorphic human tryptase loci and comparison with a newly discovered monkey tryptase ortholog. (PubMed id 10898108)1, 2, 9 Guida M.... Hall J. (Pharmacogenetics 2000)
    4. Cloning and characterization of a second complementary DNA for human tryptase. (PubMed id 2203827)1, 3, 9 Miller J.S.... Schwartz L.B. (J. Clin. Invest. 1990)
    5. Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. (PubMed id 17449330)1, 4 Akin C....Metcalfe D.D. (Clin. Immunol. 2007)
    6. Human mast cell tryptase: multiple cDNAs and genes reveal a multigene serine protease family. (PubMed id 2187193)1, 2 Vanderslice P....Caughey G.H. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    7. Cloning and characterization of complementary DNA for human tryptase. (PubMed id 2677049)1, 2 Miller J.S.... Schwartz L.B. (J. Clin. Invest. 1989)
    8. Human tryptases alpha and beta/II are functionally distinct due, in part, to a single amino acid difference in one of the surface loops that forms the substrate-binding cleft. (PubMed id 10391906)1, 9 Huang C....Stevens R.L. (J. Biol. Chem. 1999)
    9. Novel partners of SPAG11B isoform D in the human male reproductive tract. (PubMed id 19535787)1, 9 Radhakrishnan Y....French F.S. (Biol. Reprod. 2009)
    10. X-ray structures of free and leupeptin-complexed human alphaI-tryptase mutants: indication for an alpha--&gt;beta-tryptase transition. (PubMed id 16414069)1, 9 Rohr K.B....Than M.E. (J. Mol. Biol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 7177 HGNC: 12019 AceView: TPS1 Ensembl:ENSG00000172236 euGenes: HUgn7177
    ECgene: TPSAB1 H-InvDB: TPSAB1

    (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 TPSAB1 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 TPSAB1 gene:
    Search GeneIP for patents involving TPSAB1

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



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