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... See more...

Aliases for TPSAB1 Gene

Aliases for TPSAB1 Gene

  • Tryptase Alpha/Beta 1 2 3 5
  • Tryptase Alpha/Beta-1 3 4
  • Tryptase Alpha II 2 3
  • Tryptase Alpha-1 3 4
  • Tryptase Beta I 2 3
  • Tryptase-III 2 3
  • EC 3.4.21.59 4 50
  • Tryptase-I 2 3
  • Tryptase-1 3 4
  • TPSB1 3 4
  • TPS1 3 4
  • TPS2 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Mast Cell Alpha II Tryptase 3
  • Mast Cell Beta I Tryptase 3
  • Tryptase Beta 1 2
  • Tryptase Beta-2 3
  • Tryptase Beta-1 3
  • Tryptase-II 2
  • Tryptase II 3
  • Tryptase-2 3
  • Tryptase I 4
  • EC 3.4.21 50
  • TPSAB1 5
  • TPSB2 3

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 Mastocytosis and Systemic Mastocytosis. Among its related pathways are Degradation of the extracellular matrix and Matrix Metalloproteinases. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is TPSB2.

UniProtKB/Swiss-Prot Summary 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. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates (PubMed:18854315).

Gene Wiki entry for TPSAB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPSAB1 Gene

Genomics for TPSAB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPSAB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001238 Enhancer 0.3 Ensembl 250.7 -1.1 -1078 0.6 ZNF189 KLF10 TPSAB1 TPSD1 HSALNG0108865 TPSB2
GH16J001241 Promoter 0.3 EPDnew 250.7 +0.9 875 0.1 HSALNG0108865 HSALNG0108866-002 TPSAB1 ENSG00000260182 TPSD1
GH16J001240 Promoter 0.3 EPDnew 250.7 +0.3 308 0.1 HSALNG0108865 TPSAB1 TPSD1
GH16J001468 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +232.2 232208 7.2 BCLAF1 ZNF207 IKZF1 NCOR1 MYC ZNF580 ZNF592 KLF9 POLR2A MXD4 CLCN7 ENSG00000261430 ENSG00000260051 UBE2I WDR90 ENSG00000261505 TELO2 CRAMP1 ENSG00000260954 JMJD8
GH16J001308 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +70.0 69992 5.9 SP1 MYC ZNF207 NCOR1 IKZF1 ZNF600 ZNF580 ZMYM3 ATF2 CEBPA UBE2I ENSG00000274751 HSALNG0108878 WDR90 CRAMP1 TELO2 ENSG00000261505 ENSG00000260051 TSC2 RHOT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPSAB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPSAB1

Top Transcription factor binding sites by QIAGEN in the TPSAB1 gene promoter:
  • AhR
  • ATF-2
  • HNF-1
  • HNF-1A
  • Pax-5

Genomic Locations for TPSAB1 Gene

Latest Assembly
chr16:1,240,379-1,242,554
(GRCh38/hg38)
Size:
2,176 bases
Orientation:
Plus strand

Previous Assembly
chr16:1,290,706-1,292,555
(GRCh37/hg19 by Entrez Gene)
Size:
1,850 bases
Orientation:
Plus strand

chr16:1,290,697-1,292,555
(GRCh37/hg19 by Ensembl)
Size:
1,859 bases
Orientation:
Plus strand

Genomic View for TPSAB1 Gene

Genes around TPSAB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPSAB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q15661-TRYB1_HUMAN
    Recommended name:
    Tryptase alpha/beta-1
    Protein Accession:
    Q15661
    Secondary Accessions:
    • D2E6R9
    • D2E6S1
    • P15157
    • Q15663
    • Q6B052
    • Q9H2Y4
    • Q9H2Y5
    • Q9UQI1

    Protein attributes for TPSAB1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for TPSAB1 Gene

Selected DME Specific Peptides for TPSAB1 Gene

Q15661:
  • CWVTGWGDVDN
  • DIALLEL
  • VLTAAHC
  • SWGEGCA
  • GDSGGPL
  • LPPASETFP
  • QRVGIVGG
  • PLKQVKVPI
  • EQHLYYQD
  • SGGPLVC
  • FCGGSLI
  • VSRIIVHP
  • DSCQGDSGG
  • CWVTGWG
  • HFCGGSL
  • CQGDSGGP
  • WVLTAAH
  • WPWQVSL

Post-translational modifications for TPSAB1 Gene

  • Glycosylation at Asn132 and Asn233
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TRYB1_HUMAN (1861)

Other Protein References for TPSAB1 Gene

Antibodies for research

Domains & Families for TPSAB1 Gene

Gene Families for TPSAB1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TPSAB1 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for TPSAB1 Gene

GenScript: Design optimal peptide antigens:
  • Tryptase alpha/beta 1, (Q6B051_HUMAN)
  • TPSAB1 protein (Q86TM8_HUMAN)
  • TPSAB1 protein (Q86UA5_HUMAN)
  • Tryptase alpha-1 (TRYB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15661

UniProtKB/Swiss-Prot:

TRYB1_HUMAN :
  • Belongs to the peptidase S1 family. Tryptase subfamily.
Family:
  • Belongs to the peptidase S1 family. Tryptase subfamily.
genes like me logo Genes that share domains with TPSAB1: view

Function for TPSAB1 Gene

Molecular function for TPSAB1 Gene

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. May play a role in innate immunity. Isoform 2 cleaves large substrates, such as fibronectin, more efficiently than isoform 1, but seems less efficient toward small substrates (PubMed:18854315).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa, but with more restricted specificity than trypsin.; EC=3.4.21.59;.

Enzyme Numbers (IUBMB) for TPSAB1 Gene

Phenotypes From GWAS Catalog for TPSAB1 Gene

Gene Ontology (GO) - Molecular Function for TPSAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,NAS 2187193
GO:0005515 protein binding IPI 17474147
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA,TAS 2677049
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TPSAB1: view
genes like me logo Genes that share phenotypes with TPSAB1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPSAB1

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPSAB1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TPSAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IBA 21873635
GO:0062023 colocalizes_with collagen-containing extracellular matrix HDA 20551380
genes like me logo Genes that share ontologies with TPSAB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TPSAB1 Gene

Pathways & Interactions for TPSAB1 Gene

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

Pathways by source for TPSAB1 Gene

SIGNOR curated interactions for TPSAB1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TPSAB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IBA 21873635
GO:0006952 defense response TAS 2677049
GO:0022617 extracellular matrix disassembly IDA,TAS --
genes like me logo Genes that share ontologies with TPSAB1: view

Drugs & Compounds for TPSAB1 Gene

(10) Drugs for TPSAB1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-(1'-{[3-(methylsulfanyl)-2-benzothiophen-1-yl]carbonyl}spiro[1-benzofuran-3,4'-piperidin]-5-yl)methanamine Experimental Pharma Target 0
1-[1'-(3-phenylacryloyl)spiro[1-benzofuran-3,4'-piperidin]-5-yl]methanamine Experimental Pharma Target 0
Gabexate Investigational Pharma 13
Nafamostat Investigational Pharma 12
genes like me logo Genes that share compounds with TPSAB1: view

Transcripts for TPSAB1 Gene

mRNA/cDNA for TPSAB1 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPSAB1

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

No ASD Table

Relevant External Links for TPSAB1 Gene

GeneLoc Exon Structure for
TPSAB1

Expression for TPSAB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x4.2).

Protein differential expression in normal tissues from HIPED for TPSAB1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TPSAB1 Gene



Protein tissue co-expression partners for TPSAB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPSAB1

SOURCE GeneReport for Unigene cluster for TPSAB1 Gene:

Hs.405479

mRNA Expression by UniProt/SwissProt for TPSAB1 Gene:

Q15661-TRYB1_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in lung, stomach, spleen, heart and skin; in these tissues, isoform 1 is predominant. Isoform 2 is expressed in aorta, spleen, and breast tumor, with highest levels in the endothelial cells of some blood vessels surrounding the aorta, as well as those surrounding the tumor and low levels, if any, in mast cells (at protein level).

Evidence on tissue expression from TISSUES for TPSAB1 Gene

  • Lung(4.6)
  • Liver(4.3)
  • Skin(2.4)
  • Stomach(2.2)
  • Intestine(2.2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with TPSAB1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia TPSB2 29 30
  • 96.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TPSB1 29 30 30
  • 82.02 (n)
ManyToMany
Dog
(Canis familiaris)
Mammalia LOC100049001 29
  • 81.7 (n)
-- 30
  • 76 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Tpsb2 29 30
  • 77.48 (n)
ManyToMany
Tpsab1 30
  • 65 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia Tpsb2 29
  • 75.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 56 (a)
ManyToMany
-- 30
  • 50 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 46 (a)
ManyToMany
-- 30
  • 44 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 35 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 39 (a)
ManyToMany
-- 30
  • 34 (a)
ManyToMany
Species where no ortholog for TPSAB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for TPSAB1 (if available)
TreeFam:
Gene Tree for TPSAB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TPSAB1: view image
Alliance of Genome Resources:
Additional Orthologs for TPSAB1

Paralogs for TPSAB1 Gene

Paralogs for TPSAB1 Gene

Pseudogenes.org Pseudogenes 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

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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPSAB1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs1060281 -- p.His51Arg
rs1060284 -- p.Val205Ile
rs1064780 -- p.His136Arg
rs112944038 -- p.Val29Ala
rs141519544 -- p.Gly23Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TPSAB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2691n100 CNV gain 25217958
dgv2692n100 CNV gain 25217958
dgv475e199 CNV deletion 23128226
esv1000058 OTHER inversion 20482838
esv1364928 OTHER inversion 17803354
esv2422427 CNV duplication 17116639
esv2671846 CNV deletion 23128226
esv2750305 CNV deletion 23290073
esv2750309 CNV deletion 23290073
esv2750310 CNV deletion 23290073
esv29040 CNV loss 19812545
esv3637606 CNV loss 21293372
esv3892754 CNV loss 25118596
nsv1046314 CNV loss 25217958
nsv1046885 CNV gain 25217958
nsv1051302 CNV gain 25217958
nsv1708 CNV deletion 18451855
nsv428316 CNV gain+loss 18775914
nsv471066 CNV loss 18288195
nsv499512 OTHER inversion 21111241
nsv499513 OTHER inversion 21111241
nsv571101 CNV gain 21841781
nsv571102 CNV loss 21841781
nsv571105 CNV loss 21841781
nsv571108 CNV loss 21841781
nsv571109 CNV gain 21841781
nsv7274 OTHER inversion 18451855
nsv833117 CNV loss 17160897
nsv952899 CNV deletion 24416366

Variation tolerance for TPSAB1 Gene

Residual Variation Intolerance Score: 93.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TPSAB1 Gene

Human Gene Mutation Database (HGMD)
TPSAB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPSAB1
Leiden Open Variation Database (LOVD)
TPSAB1

SNP Genotyping and Copy Number Assays for research

Disorders for TPSAB1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TPSAB1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
mastocytosis
  • mast cell hyperplasia
systemic mastocytosis
  • smcd - systemic mast cell disease
hereditary alpha tryptasemia syndrome
polyposis syndrome, hereditary mixed, 2
  • hmps2
dengue shock syndrome
  • dss
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TRYB1_HUMAN
  • Note=Hereditary alpha tryptasemia is caused by an increase in the copy number (usually between two and three copies) of the alpha allele. Affected individuals have elevated basal serum tryptase levels that are associated with cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities. It is not clear if the associated multisystem complaints might be due to the coinheritance of a second functional genetic variant. {ECO:0000269 PubMed:27749843}.

Additional Disease Information for TPSAB1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TPSAB1: view

No data available for Genatlas for TPSAB1 Gene

Publications for TPSAB1 Gene

  1. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PMID: 19748655) Trivedi NN … Caughey GH (The Journal of allergy and clinical immunology 2009) 3 4 40
  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 22
  3. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. (PMID: 9920877) Pallaoro M … Caughey GH (The Journal of biological chemistry 1999) 2 3 4
  4. Cloning and characterization of a second complementary DNA for human tryptase. (PMID: 2203827) Miller JS … Schwartz LB (The Journal of clinical investigation 1990) 2 3 22
  5. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. (PMID: 27749843) Lyons JJ … Milner JD (Nature genetics 2016) 3 4

Products for TPSAB1 Gene

Sources for TPSAB1 Gene