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 functio... See more...

Aliases for TPSG1 Gene

Aliases for TPSG1 Gene

  • Tryptase Gamma 1 2 3 5
  • PRSS31 2 3 4
  • TMT 2 3 4
  • Transmembrane Tryptase 3 4
  • Serine Protease 31 3 4
  • Tryptase Gamma II 2 3
  • Tryptase Gamma I 2 3
  • Tryptase Gamma 3 4
  • EC 3.4.21.- 4
  • EC 3.4.21 51
  • TPSG1 5
  • TrpA 3

External Ids for TPSG1 Gene

Previous GeneCards Identifiers for TPSG1 Gene

  • GC16M001288
  • GC16M001212
  • GC16M001208
  • GC16M001213
  • GC16M001204
  • GC16M001271

Summaries for TPSG1 Gene

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 Oral Mucosa Leukoplakia and Capillary Malformations, Congenital. 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 TPSAB1.

Gene Wiki entry for TPSG1 Gene

Additional gene information for TPSG1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPSG1 Gene

Genomics for TPSG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPSG1 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
GH16J001225 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 606.2 +0.7 653 1.6 HNRNPL ZIC2 POLR2A HNF4A GLIS1 MAFK TPSG1 lnc-TPSB2-6 TPSD1 TPSB2 CACNA1H
GH16J001227 Enhancer 0.2 Ensembl 608.8 -0.9 -946 0.4 TPSG1 TPSD1 TPSB2
GH16J001228 Enhancer 0.2 Ensembl 600.7 -1.4 -1447 0.2 TPSG1 TPSD1 TPSB2
GH16J001179 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 9 +44.5 44507 3.8 GATAD2A ZBTB33 CTCF RFX1 ZIC2 RXRB PATZ1 REST SP1 ZNF600 TPSG1 CACNA1H UNKL HSALNG0108858 ENSG00000259910
GH16J001173 Enhancer 1.1 Ensembl ENCODE dbSUPER 6.4 +51.8 51754 3 GATAD2A PRDM10 ZIC2 DPF2 ZNF600 CTCF CEBPB ZBTB10 ZKSCAN1 NR3C1 TPSG1 TPSD1 TPSAB1 FBXL16 METTL26 ENSG00000259910 CACNA1H HSALNG0108858
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPSG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPSG1

Top Transcription factor binding sites by QIAGEN in the TPSG1 gene promoter:
  • AhR
  • ATF-2
  • HNF-1
  • HNF-1A
  • Pax-5

Genomic Locations for TPSG1 Gene

Genomic Locations for TPSG1 Gene
chr16:1,221,651-1,226,454
(GRCh38/hg38)
Size:
4,804 bases
Orientation:
Minus strand
chr16:1,271,651-1,275,257
(GRCh37/hg19)
Size:
3,607 bases
Orientation:
Minus strand

Genomic View for TPSG1 Gene

Genes around TPSG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPSG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPSG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPSG1 Gene

Proteins for TPSG1 Gene

  • Protein details for TPSG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRR2-TRYG1_HUMAN
    Recommended name:
    Tryptase gamma
    Protein Accession:
    Q9NRR2
    Secondary Accessions:
    • Q96RZ8
    • Q9C015
    • Q9NRQ8
    • Q9UBB2

    Protein attributes for TPSG1 Gene

    Size:
    321 amino acids
    Molecular mass:
    33815 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TPSG1 Gene

Selected DME Specific Peptides for TPSG1 Gene

Q9NRR2:
  • VLTAAHC
  • SGGPLVC
  • CWVTGWG
  • LTAAHCF
  • WVLTAAH

Post-translational modifications for TPSG1 Gene

  • Glycosylation at Asn85
  • Modification sites at PhosphoSitePlus

Other Protein References for TPSG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TPSG1 Gene

Gene Families for TPSG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for TPSG1 Gene

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

Suggested Antigen Peptide Sequences for TPSG1 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane tryptase (TRYG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRR2

UniProtKB/Swiss-Prot:

TRYG1_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 TPSG1: view

Function for TPSG1 Gene

Enzyme Numbers (IUBMB) for TPSG1 Gene

Phenotypes From GWAS Catalog for TPSG1 Gene

Gene Ontology (GO) - Molecular Function for TPSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA 21873635
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 10521469
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TPSG1: view
genes like me logo Genes that share phenotypes with TPSG1: view

Animal Model Products

CRISPR Products

miRNA for TPSG1 Gene

miRTarBase miRNAs that target TPSG1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPSG1

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TPSG1 Gene

Localization for TPSG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPSG1 Gene

Membrane. Single-pass membrane protein.

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 TPSG1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TPSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005887 integral component of plasma membrane TAS 10521469
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TPSG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TPSG1 Gene

Pathways & Interactions for TPSG1 Gene

PathCards logo

SuperPathways for TPSG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TPSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IBA 21873635
genes like me logo Genes that share ontologies with TPSG1: view

No data available for Pathways by source and SIGNOR curated interactions for TPSG1 Gene

Drugs & Compounds for TPSG1 Gene

(13) Drugs for TPSG1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-({[4-(TRIFLUOROMETHOXY)PHENYL]SULFONYL}AMINO)ETHYL DIHYDROGEN PHOSPHATE Experimental Pharma Target 0
2-[(2-NAPHTHYLSULFONYL)AMINO]ETHYL DIHYDROGEN PHOSPHATE Experimental Pharma Target 0
2-{[4-(TRIFLUOROMETHOXY)BENZOYL]AMINO}ETHYL DIHYDROGEN PHOSPHATE Experimental Pharma Target 0
4-(2-HYDROXY-4-FLUOROPHENYLTHIO)-BUTYLPHOSPHONIC ACID Experimental Pharma Target 0
4-(2-HYDROXYPHENYLSULFINYL)-BUTYLPHOSPHONIC ACID Experimental Pharma Target 0
genes like me logo Genes that share compounds with TPSG1: view

Transcripts for TPSG1 Gene

mRNA/cDNA for TPSG1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPSG1

Alternative Splicing Database (ASD) splice patterns (SP) for TPSG1 Gene

No ASD Table

Relevant External Links for TPSG1 Gene

GeneLoc Exon Structure for
TPSG1

Expression for TPSG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TPSG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)

mRNA differential expression in normal tissues according to GTEx for TPSG1 Gene

This gene is overexpressed in Colon - Transverse (x12.3) and Small Intestine - Terminal Ileum (x4.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPSG1

SOURCE GeneReport for Unigene cluster for TPSG1 Gene:

Hs.592076

mRNA Expression by UniProt/SwissProt for TPSG1 Gene:

Q9NRR2-TRYG1_HUMAN
Tissue specificity: Expressed in many tissues.

Evidence on tissue expression from TISSUES for TPSG1 Gene

  • Intestine(2.4)
genes like me logo Genes that share expression patterns with TPSG1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TPSG1 Gene

Orthologs for TPSG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPSG1 Gene

Organism Taxonomy Gene Similarity Type Details
Mouse
(Mus musculus)
Mammalia Tpsg1 30 17 31
  • 76.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tpsg1 30
  • 76.29 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 39 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
-- 31
  • 14 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 40 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG11192 32
  • 39 (a)
CG4998 32
  • 38 (a)
CG7432 32
  • 38 (a)
mas 32
  • 37 (a)
CG18065 32
  • 37 (a)
Species where no ortholog for TPSG1 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)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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 TPSG1 Gene

ENSEMBL:
Gene Tree for TPSG1 (if available)
TreeFam:
Gene Tree for TPSG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TPSG1: view image

Paralogs for TPSG1 Gene

Variants for TPSG1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TPSG1 Gene

TRYG1_HUMAN-Q9NRR2
There are two alleles; gamma-I and gamma-II which differ by 5 residues.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPSG1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
713528 Likely Benign: not provided 1,221,910(-) G/T MISSENSE_VARIANT
718591 Benign: not provided 1,222,785(-) G/A SYNONYMOUS_VARIANT
729337 Likely Benign: not provided 1,221,793(-) CAG/C FRAMESHIFT_VARIANT
786632 Benign: not provided 1,221,970(-) C/T MISSENSE_VARIANT
rs1004041 - p.Leu288Phe

Additional dbSNP identifiers (rs#s) for TPSG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TPSG1 Gene

Variant ID Type Subtype PubMed ID
dgv2691n100 CNV gain 25217958
dgv2692n100 CNV gain 25217958
esv1000058 OTHER inversion 20482838
esv2422427 CNV duplication 17116639
esv3892754 CNV loss 25118596
nsv1046885 CNV gain 25217958
nsv1051302 CNV gain 25217958
nsv1160327 CNV deletion 26073780
nsv428316 CNV gain+loss 18775914
nsv471066 CNV loss 18288195
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 TPSG1 Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.70; 83.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TPSG1 Gene

Human Gene Mutation Database (HGMD)
TPSG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPSG1

SNP Genotyping and Copy Number Assay Products

Disorders for TPSG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TPSG1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
oral mucosa leukoplakia
  • leukoplakia, oral
capillary malformations, congenital
  • cmc
- elite association - COSMIC cancer census association via MalaCards
Search TPSG1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with TPSG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TPSG1 Gene

Publications for TPSG1 Gene

  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. (PMID: 10521469) Wong GW … Stevens RL (The Journal of biological chemistry 1999) 2 3 4 23
  2. 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. (PMID: 12194977) Wong GW … Stevens RL (The Journal of biological chemistry 2002) 3 23
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 3 4
  4. Characterization of human gamma-tryptases, novel members of the chromosome 16p mast cell tryptase and prostasin gene families. (PMID: 10843716) Caughey GH … Verghese GM (Journal of immunology (Baltimore, Md. : 1950) 2000) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TPSG1 Gene

  • Signalway ELISA kits for TPSG1
  • Signalway Proteins for TPSG1

Sources for TPSG1 Gene