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Aliases for TPSAB1 Gene

Aliases for TPSAB1 Gene

  • Tryptase Alpha/Beta 1 2 3
  • TPS1 3 4 6
  • Tryptase Alpha II 2 3
  • Tryptase Alpha-1 3 4
  • Tryptase Beta I 2 3
  • Tryptase Beta 1 2 3
  • Tryptase-III 2 3
  • EC 4 63
  • Tryptase-I 2 3
  • Tryptase I 3 4
  • Tryptase-1 3 4
  • TPSB1 3 4
  • TPS2 3 4
  • Mast Cell Alpha II Tryptase 3
  • Mast Cell Beta I Tryptase 3
  • Tryptase Alpha/Beta-1 3
  • Tryptase Beta-1 3
  • Tryptase-II 2
  • EC 3.4.21 63

External Ids for TPSAB1 Gene

Previous HGNC Symbols for TPSAB1 Gene

  • TPSB1
  • TPS1
  • TPS2

Previous GeneCards Identifiers for TPSAB1 Gene

  • GC16P001233
  • GC16P001290

Summaries for TPSAB1 Gene

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. Among its related pathways are Degradation of the extracellular matrix and Degradation of the extracellular matrix. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is PRSS46.

UniProtKB/Swiss-Prot for TPSAB1 Gene

  • Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type.

Gene Wiki entry for TPSAB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPSAB1 Gene

Genomics for TPSAB1 Gene

Regulatory Elements for TPSAB1 Gene

Genomic Location for TPSAB1 Gene

1,240,677 bp from pter
1,242,554 bp from pter
1,878 bases
Plus strand

Genomic View for TPSAB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPSAB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPSAB1 Gene

Proteins for TPSAB1 Gene

  • Protein details for TPSAB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tryptase alpha/beta-1
    Protein Accession:
    Secondary Accessions:
    • D2E6R9
    • D2E6S1
    • P15157
    • Q15663
    • Q6B052
    • Q9H2Y4
    • Q9H2Y5
    • Q9UQI1

    Protein attributes for TPSAB1 Gene

    275 amino acids
    Molecular mass:
    30515 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for TPSAB1 Gene

    Alternative splice isoforms for TPSAB1 Gene


neXtProt entry for TPSAB1 Gene

Proteomics data for TPSAB1 Gene at MOPED

Post-translational modifications for TPSAB1 Gene

  • Glycosylation at Asn132 and Asn233
  • Modification sites at PhosphoSitePlus

Other Protein References for TPSAB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TPSAB1 (Mast Cell Protease-6/Mcpt6)
  • R&D Systems Antibodies for TPSAB1 (Tryptase alpha/TPS1)

Domains for TPSAB1 Gene

Suggested Antigen Peptide Sequences for TPSAB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Tryptase subfamily.
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Tryptase subfamily.
genes like me logo Genes that share domains with TPSAB1: view

No data available for Gene Families for TPSAB1 Gene

Function for TPSAB1 Gene

Molecular function for TPSAB1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage: Arg- -Xaa, Lys- -Xaa, but with more restricted specificity than trypsin
UniProtKB/Swiss-Prot Function:
Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type.

Enzyme Numbers (IUBMB) for TPSAB1 Gene

Gene Ontology (GO) - Molecular Function for TPSAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity NAS 2187193
GO:0005515 protein binding IPI 17474147
GO:0008236 serine-type peptidase activity TAS 2677049
genes like me logo Genes that share ontologies with TPSAB1: view

Phenotypes for TPSAB1 Gene

GenomeRNAi human phenotypes for TPSAB1:
genes like me logo Genes that share phenotypes with TPSAB1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPSAB1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TPSAB1 Gene

Localization for TPSAB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPSAB1 Gene

Secreted. Note=Released from the secretory granules upon mast cell activation. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for TPSAB1 Gene COMPARTMENTS Subcellular localization image for TPSAB1 gene
Compartment Confidence
extracellular 5
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TPSAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 20551380
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with TPSAB1: view

Pathways for TPSAB1 Gene

genes like me logo Genes that share pathways with TPSAB1: view

Pathways by source for TPSAB1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for TPSAB1 Gene

Gene Ontology (GO) - Biological Process for TPSAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006952 defense response TAS 2677049
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with TPSAB1: view

Compounds for TPSAB1 Gene

(2) Drugbank Compounds for TPSAB1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
25113123 Target experimental
25113124 Target experimental

(2) HMDB Compounds for TPSAB1 Gene

Compound Synonyms Cas Number PubMed IDs
Kinetensin 1-3
  • Ile-Ala-Arg
Not Available
Kinetensin 4-8
  • KT(4-8)

(6) Novoseek inferred chemical compound relationships for TPSAB1 Gene

Compound -log(P) Hits PubMed IDs
trehalose 6-phosphate 81.8 5
trehalose 59.9 4
serine 53.1 3
histamine 24.3 1
sucrose 11.4 1
genes like me logo Genes that share compounds with TPSAB1: view

Transcripts for TPSAB1 Gene

mRNA/cDNA for TPSAB1 Gene

Unigene Clusters for TPSAB1 Gene

Tryptase alpha/beta 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TPSAB1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPSAB1 Gene

No ASD Table

Relevant External Links for TPSAB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TPSAB1 Gene

mRNA expression in normal human tissues for TPSAB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPSAB1 Gene

This gene is overexpressed in Esophagus - Muscularis (4.2).

Protein differential expression in normal tissues for TPSAB1 Gene

This gene is overexpressed in Skin (36.8) and Lung (28.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TPSAB1 Gene

SOURCE GeneReport for Unigene cluster for TPSAB1 Gene Hs.405479

genes like me logo Genes that share expressions with TPSAB1: view

Expression partners for TPSAB1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TPSAB1 Gene

Orthologs for TPSAB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPSAB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TPSB1 35
  • 82.02 (n)
  • 77.56 (a)
TPSB1 36
  • 76 (a)
TPSB1 36
  • 76 (a)
(Canis familiaris)
Mammalia LOC100049001 35
  • 81.7 (n)
  • 76 (a)
-- 36
  • 76 (a)
(Mus musculus)
Mammalia Tpsb2 35
  • 77.48 (n)
  • 78.38 (a)
Tpsab1 36
  • 65 (a)
Tpsb2 36
  • 76 (a)
(Pan troglodytes)
Mammalia TPSB2 35
  • 96.96 (n)
  • 96.58 (a)
TPSB2 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Tpsb2 35
  • 75.77 (n)
  • 75.77 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
-- 36
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 41 (a)
-- 36
  • 46 (a)
-- 36
  • 40 (a)
-- 36
  • 35 (a)
-- 36
  • 44 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 39 (a)
-- 36
  • 34 (a)
Species with no ortholog for TPSAB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TPSAB1 Gene

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

Paralogs for TPSAB1 Gene

genes like me logo Genes that share paralogs with TPSAB1: view

Variants for TPSAB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TPSAB1 Gene

There are two alleles alpha and beta-I. The sequence shown is that of allele beta-I

Sequence variations from dbSNP and Humsavar for TPSAB1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1060314 -- 1,242,253(+) CTGGG(G/T)TGGCC utr-variant-3-prime
rs1060318 -- 1,242,280(+) GACCA(A/G)CCCCT utr-variant-3-prime
rs1064777 -- 1,241,563(+) GCGGA(C/T)ATCGC reference, synonymous-codon
rs1064778 -- 1,241,590(+) GAGCC(C/G)GTGAA synonymous-codon, reference
rs1064783 -- 1,241,638(+) GCCTC(A/G)GAGAC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for TPSAB1 Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv471066 CNV Loss 18288195
nsv428316 CNV Gain+Loss 18775914
dgv2504n71 CNV Loss 21882294
dgv2505n71 CNV Loss 21882294
dgv2509n71 CNV Loss 21882294
dgv2514n71 CNV Loss 21882294
dgv2520n71 CNV Loss 21882294
nsv904937 CNV Gain 21882294
dgv2522n71 CNV Loss 21882294
nsv904948 CNV Gain 21882294
dgv2525n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv904954 CNV Loss 21882294
nsv904955 CNV Loss 21882294
nsv7274 OTHER Inversion 18451855
nsv904956 CNV Gain 21882294
nsv904957 CNV Loss 21882294
nsv833117 CNV Loss 17160897
esv1000058 OTHER Inversion 20482838
esv29040 CNV Loss 19812545
esv2750305 CNV Deletion 23290073
nsv1708 CNV Loss 18451855
nsv499512 OTHER Inversion 21111241
esv1364928 OTHER Inversion 17803354
nsv499513 OTHER Inversion 21111241
esv2750309 CNV Deletion 23290073
dgv475e199 CNV Deletion 23128226
esv2671846 CNV Deletion 23128226
esv2750310 CNV Deletion 23290073

Relevant External Links for TPSAB1 Gene

HapMap Linkage Disequilibrium report

Disorders for TPSAB1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for TPSAB1 Gene in MalaCards »

(4) Diseases for TPSAB1 Gene

(3) Novoseek inferred disease relationships for TPSAB1 Gene

Disease -log(P) Hits PubMed IDs
mastocytosis 76.1 4
mastocytosis systemic 67.5 2
anaphylaxis 57.4 1

Relevant External Links for TPSAB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TPSAB1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES and Genatlas for TPSAB1 Gene

Publications for TPSAB1 Gene

  1. Cloning and characterization of a second complementary DNA for human tryptase. (PMID: 2203827) Miller J.S. … Schwartz L.B. (J. Clin. Invest. 1990) 2 3 23
  2. Characterization of two highly polymorphic human tryptase loci and comparison with a newly discovered monkey tryptase ortholog. (PMID: 10898108) Guida M. … Hall J. (Pharmacogenetics 2000) 3 4 23
  3. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PMID: 19748655) Trivedi N.N. … Caughey G.H. (J. Allergy Clin. Immunol. 2009) 3 4 48
  4. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. (PMID: 9920877) Pallaoro M. … Caughey G.H. (J. Biol. Chem. 1999) 2 3 4
  5. Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. (PMID: 17449330) Akin C. … Metcalfe D.D. (Clin. Immunol. 2007) 3 48

Products for TPSAB1 Gene

Sources for TPSAB1 Gene

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