TPSD1 (tryptase delta 1)

Gene

• Entrez ID: 23430
• Gene name: Tryptase delta 1
• Gene symbol: TPSD1
• Synonyms (NCBI Gene): MCP7-LIKE, MCP7L1, MMCP-7L
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT023846	hsa-miR-1-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	9920877
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 609272
• HGNC: 14118
• e!Ensembl: ENSG00000095917

Protein

• UniProt ID: Q9BZJ3
• Protein name: Tryptase delta (EC 3.4.21.59) (Delta-tryptase) (HmMCP-3-like tryptase III) (Mast cell mMCP-7-like) (Tryptase-3)
• 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	38 → 241	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colon, lung, heart and synovial tissue. May be specific to mast cells. {ECO:0000269|PubMed:12391231}.
• Sequence:

  MLLLAPQMLSLLLLALPVLASPAYVAPAPGQALQQTGIVGGQEAPRSKWPWQVSLRVRGP
  YWMHFCGGSLIHPQWVLTAAHCVEPDIKDLAALRVQLREQHLYYQDQLLPVSRIIVHPQF
  YIIQTGADIALLELEEPVNISSHIHTVTLPPASETFPPGMPCWVTGWGDVDNNVHLPPPY
  PLKEVEVPVVENHLCNAEYHTGLHTGHSFQIVRDDMLCAGSENHDSCQGDSGGPLVCKVN
  GT

• Sequence length: 242

Pathways

KEGG:

Influenza A

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaphylaxis	Anaphylaxis	Pubtator	26715811	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16195539, 27739024		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	38291602	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30877022		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	31144750		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30599216		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	29171731	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Thrombosis	Coronary Thrombosis	BEFREE	30599216		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	21035108	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	11804840		★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	31144750		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11568008	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11568008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27240355		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	17449330, 25912132		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	17449330	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27868214, 28992848, 31506436		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	24874976		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	24874976	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	37511292	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27240355		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25982926		★☆☆☆☆ Found in Text Mining only