Gene Gene information from NCBI Gene database.
Entrez ID 7177
Gene name Tryptase alpha/beta 1
Gene symbol TPSAB1
Synonyms (NCBI Gene)
TPS1TPS2TPSB1TPSB2Tryptase-2
Chromosome 16
Chromosome location 16p13.3
Summary 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 ar
miRNA miRNA information provided by mirtarbase database.
26
miRTarBase ID miRNA Experiments Reference
MIRT1450386 hsa-miR-1207-5p CLIP-seq
MIRT1450387 hsa-miR-1538 CLIP-seq
MIRT1450388 hsa-miR-3135b CLIP-seq
MIRT1450389 hsa-miR-3179 CLIP-seq
MIRT1450390 hsa-miR-3202 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity NAS 2187193
GO:0005515 Function Protein binding IPI 17474147
GO:0005576 Component Extracellular region HDA 27068509
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191080 12019 ENSG00000172236
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15661
Protein name Tryptase alpha/beta-1 (Tryptase-1) (EC 3.4.21.59) (Tryptase I) (Tryptase alpha-1)
Protein 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
PDB 1LTO , 2F9N , 2F9O , 2F9P , 2ZEB , 2ZEC , 4A6L , 4MPU , 4MPV , 4MPW , 4MPX , 4MQA , 5F03 , 5WI6 , 6O1F , 6P0P , 6VVU , 8VGH , 8VGI , 8VGJ , 8VGK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 31 267 Trypsin Domain
Tissue specificity 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
Sequence
Sequence length 275
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Influenza A   Activation of Matrix Metalloproteinases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs146223687 RCV005918140
Colon adenocarcinoma Benign rs146223687 RCV005918137
Colorectal cancer Benign rs146223687 RCV005918141
Familial cancer of breast Benign rs146223687, rs2234661 RCV005918136
RCV005920267
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anaphylaxis Associate 37558059
Asthma Associate 28933920, 37241840
Blood Coagulation Disorders Associate 40629026
Bradycardia Associate 34004232
Connective Tissue Diseases Associate 27749843
Hepatitis E Associate 34145303
Hereditary alpha tryptasemia syndrome Associate 28933792, 32777817, 33481382, 33865872, 40649802
Hereditary alpha tryptasemia syndrome Stimulate 36170795, 38287122
Immunologic Deficiency Syndromes Associate 19748655
Inflammation Associate 34637606