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Aliases for TPSD1 Gene

Aliases for TPSD1 Gene

  • Tryptase Delta 1 2 3 5
  • HmMCP-3-Like Tryptase III 3 4
  • Delta-Tryptase 3 4
  • MMCP-7-LIKE-2 2 3
  • EC 4 58
  • Tryptase-3 3 4
  • MMCP-7-Like Delta II Tryptase 3
  • Mast Cell MMCP-7-Like 4
  • Mast Cell Tryptase 3
  • MMCP-7-Like II 2
  • Tryptase Delta 3
  • MMCP-7-Like I 2
  • MMCP-7-Like-1 3
  • MCP7-LIKE 3
  • EC 3.4.21 58
  • MMCP-7L 3
  • MCP7L1 3

External Ids for TPSD1 Gene

Previous GeneCards Identifiers for TPSD1 Gene

  • GC16P001322
  • GC16P001246
  • GC16P001235
  • GC16P001307

Summaries for TPSD1 Gene

Entrez Gene Summary for TPSD1 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. Although this gene may be an exception, most of the tryptase 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. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for TPSD1 Gene

TPSD1 (Tryptase Delta 1) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is TPSAB1.

UniProtKB/Swiss-Prot for TPSD1 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 TPSD1 Gene

Additional gene information for TPSD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPSD1 Gene

Genomics for TPSD1 Gene

Regulatory Elements for TPSD1 Gene

Enhancers for TPSD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H001244 1.1 FANTOM5 Ensembl ENCODE 62.3 -10.6 -10637 1.1 ZNF316 MAFG NFE2 EMSY GABPA TPSD1 TPSAB1 TPSB2 TPSG1 LOC105379540
GH16H001296 1.6 Ensembl ENCODE dbSUPER 12 +43.1 43125 5.3 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF143 FOS ENSG00000261505 UBE2I ENSG00000260051 RHOT2 ENSG00000226890 ENSG00000200059 ENSG00000260954 E4F1 BAIAP3 ENSG00000261240
GH16H001291 1.1 FANTOM5 ENCODE 12 +35.1 35133 0.4 FOXA2 NFIB SAP130 ARID4B YY1 E2F1 EGR1 SCRT2 NR2F6 ZNF687 BAIAP3 TPSD1 RPS20P2 GNPTG TSR3 UBE2I CACNA1H TPSP2 ENSG00000260710
GH16H001294 1 FANTOM5 12 +38.4 38400 0.3 HDAC1 ATF1 ZNF766 ELK1 FOS ATF7 CAVIN1 ZBTB11 CEBPB USF2 WDR90 CRAMP1 TELO2 ENSG00000260646 TSC2 IFT140 SNHG19 ENSG00000261505 JMJD8 ENSG00000260954
GH16H001271 1.1 ENCODE 10.2 +15.8 15768 1.6 PKNOX1 SIN3A FEZF1 ZNF2 ZNF302 ZNF416 SP3 REST ZNF662 ZNF592 CRAMP1 WDR90 TELO2 IFT140 ENSG00000261505 TSC2 E4F1 WDR24 ENSG00000260646 UBE2I
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TPSD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TPSD1 Gene

Genomic Locations for TPSD1 Gene
2,940 bases
Plus strand

Genomic View for TPSD1 Gene

Genes around TPSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPSD1 Gene

Proteins for TPSD1 Gene

  • Protein details for TPSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tryptase delta
    Protein Accession:
    Secondary Accessions:
    • O95824
    • Q8TDI6
    • Q96L36
    • Q96RZ5
    • Q9H2Y6
    • Q9UQI8

    Protein attributes for TPSD1 Gene

    242 amino acids
    Molecular mass:
    26584 Da
    Quaternary structure:
    • Homotetramer.
    • Sequence=AAD17861.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK12909.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TPSD1 Gene


neXtProt entry for TPSD1 Gene

Selected DME Specific Peptides for TPSD1 Gene


Post-translational modifications for TPSD1 Gene

  • Glycosylation at Asn139
  • Modification sites at PhosphoSitePlus

Other Protein References for TPSD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TPSD1 Gene

Gene Families for TPSD1 Gene

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

Suggested Antigen Peptide Sequences for TPSD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family. Tryptase subfamily.
  • Belongs to the peptidase S1 family. Tryptase subfamily.
genes like me logo Genes that share domains with TPSD1: view

Function for TPSD1 Gene

Molecular function for TPSD1 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 TPSD1 Gene

Phenotypes From GWAS Catalog for TPSD1 Gene

Gene Ontology (GO) - Molecular Function for TPSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 9920877
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with TPSD1: view
genes like me logo Genes that share phenotypes with TPSD1: view

Animal Model Products

CRISPR Products

miRNA for TPSD1 Gene

miRTarBase miRNAs that target TPSD1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TPSD1 Gene

Localization for TPSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPSD1 Gene

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

Subcellular locations from

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 TPSD1 gene
Compartment Confidence
extracellular 4
lysosome 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TPSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with TPSD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TPSD1 Gene

Pathways & Interactions for TPSD1 Gene

SuperPathways for TPSD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TPSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with TPSD1: view

No data available for Pathways by source and SIGNOR curated interactions for TPSD1 Gene

Drugs & Compounds for TPSD1 Gene

No Compound Related Data Available

Transcripts for TPSD1 Gene

mRNA/cDNA for TPSD1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(124) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TPSD1 Gene

Tryptase delta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPSD1 Gene

No ASD Table

Relevant External Links for TPSD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TPSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TPSD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPSD1 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x4.6) and Esophagus - Muscularis (x4.6).

Protein differential expression in normal tissues from HIPED for TPSD1 Gene

This gene is overexpressed in Skin (38.5) and Lung (30.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TPSD1 Gene

Protein tissue co-expression partners for TPSD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TPSD1 Gene:


SOURCE GeneReport for Unigene cluster for TPSD1 Gene:


mRNA Expression by UniProt/SwissProt for TPSD1 Gene:

Tissue specificity: Expressed in colon, lung, heart and synovial tissue. May be specific to mast cells.
genes like me logo Genes that share expression patterns with TPSD1: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TPSD1 Gene

Orthologs for TPSD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TPSD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TPSD1 33
  • 92.61 (n)
-- 34
  • 42 (a)
(Bos Taurus)
Mammalia TPSB1 34 34
  • 60 (a)
(Mus musculus)
Mammalia Tpsb2 34
  • 59 (a)
Tpsab1 34
  • 53 (a)
(Canis familiaris)
Mammalia -- 34
  • 58 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 47 (a)
-- 34
  • 43 (a)
-- 34
  • 39 (a)
-- 34
  • 33 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 41 (a)
-- 34
  • 37 (a)
-- 34
  • 35 (a)
-- 34
  • 34 (a)
-- 34
  • 29 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 32 (a)
-- 34
  • 31 (a)
Species where no ortholog for TPSD1 was found in the sources mined by GeneCards:
  • 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)
  • rat (Rattus norvegicus)
  • 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 TPSD1 Gene

Gene Tree for TPSD1 (if available)
Gene Tree for TPSD1 (if available)

Paralogs for TPSD1 Gene

Variants for TPSD1 Gene

Sequence variations from dbSNP and Humsavar for TPSD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000439247 -- 1,255,546(+) CCCAA(C/T)CAAGT upstream-variant-2KB
rs1000893300 -- 1,256,158(+) CAGAC(G/T)CAGAG upstream-variant-2KB
rs1002173952 -- 1,257,233(+) GAGAC(A/G)GTGAG intron-variant
rs1002835161 -- 1,258,989(+) TCATT(A/G)AAGTG downstream-variant-500B
rs1003954688 -- 1,254,640(+) TCAGC(C/G)TCAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TPSD1 Gene

Variant ID Type Subtype PubMed ID
nsv952899 CNV deletion 24416366
nsv833117 CNV loss 17160897
nsv7274 OTHER inversion 18451855
nsv571109 CNV gain 21841781
nsv571108 CNV loss 21841781
nsv571105 CNV loss 21841781
nsv571102 CNV loss 21841781
nsv571101 CNV gain 21841781
nsv523308 CNV loss 19592680
nsv515770 CNV loss 19592680
nsv471066 CNV loss 18288195
nsv428316 CNV gain+loss 18775914
nsv1708 CNV deletion 18451855
nsv1051302 CNV gain 25217958
nsv1046885 CNV gain 25217958
nsv1046314 CNV loss 25217958
nsv103222 CNV deletion 16902084
esv3892755 CNV gain 25118596
esv3581926 CNV loss 25503493
esv2750310 CNV deletion 23290073
esv2422427 CNV duplication 17116639
esv1000058 OTHER inversion 20482838
dgv2692n100 CNV gain 25217958

Variation tolerance for TPSD1 Gene

Residual Variation Intolerance Score: 95.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.42; 88.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPSD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPSD1 Gene

Disorders for TPSD1 Gene

Relevant External Links for TPSD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for TPSD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TPSD1 Gene

Publications for TPSD1 Gene

  1. Delta tryptase is expressed in multiple human tissues, and a recombinant form has proteolytic activity. (PMID: 12391231) Wang HW … Hunt JE (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4 22 60
  2. 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 60
  3. Chimerism, point mutation, and truncation dramatically transformed mast cell delta-tryptases during primate evolution. (PMID: 18325577) Trivedi NN … Caughey GH (The Journal of allergy and clinical immunology 2008) 3 22 60
  4. Alternate mRNA splicing in multiple human tryptase genes is predicted to regulate tetramer formation. (PMID: 18854315) Jackson NE … Hunt JE (The Journal of biological chemistry 2008) 3 4 60
  5. 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 60

Products for TPSD1 Gene

Sources for TPSD1 Gene

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