TPSAB1 (tryptase alpha/beta 1)

Gene

• Entrez ID: 7177
• Gene name: Tryptase alpha/beta 1
• Gene symbol: TPSAB1
• Synonyms (NCBI Gene): TPS1, TPS2, TPSB1, TPSB2, Tryptase-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

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
MIRT1450391	hsa-miR-3652	CLIP-seq
MIRT1450392	hsa-miR-3664-3p	CLIP-seq
MIRT1450393	hsa-miR-4430	CLIP-seq
MIRT1450394	hsa-miR-4436a	CLIP-seq
MIRT1450395	hsa-miR-4446-3p	CLIP-seq
MIRT1450396	hsa-miR-4492	CLIP-seq
MIRT1450397	hsa-miR-4498	CLIP-seq
MIRT1450398	hsa-miR-4688	CLIP-seq
MIRT1450399	hsa-miR-4721	CLIP-seq
MIRT1450400	hsa-miR-4728-5p	CLIP-seq
MIRT1450401	hsa-miR-4745-3p	CLIP-seq
MIRT1450402	hsa-miR-4763-3p	CLIP-seq
MIRT1450403	hsa-miR-4783-3p	CLIP-seq
MIRT1450404	hsa-miR-486-3p	CLIP-seq
MIRT1450405	hsa-miR-510	CLIP-seq
MIRT1450406	hsa-miR-762	CLIP-seq
MIRT2134637	hsa-miR-1909	CLIP-seq
MIRT2134638	hsa-miR-2278	CLIP-seq
MIRT2134639	hsa-miR-24	CLIP-seq
MIRT2134640	hsa-miR-4283	CLIP-seq
MIRT2134641	hsa-miR-4437	CLIP-seq

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:0004252	Function	Serine-type endopeptidase activity	NAS	2187193
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006952	Process	Defense response	TAS	2677049
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	2677049
GO:0016787	Function	Hydrolase activity	IEA
GO:0022617	Process	Extracellular matrix disassembly	IDA	27068509
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0042802	Function	Identical protein binding	IPI	29661938

Other IDs

• MIM: 191080
• HGNC: 12019
• e!Ensembl: ENSG00000172236

Protein

• UniProt ID: 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:

  MLNLLLLALPVLASRAYAAPAPGQALQRVGIVGGQEAPRSKWPWQVSLRVHGPYWMHFCG
  GSLIHPQWVLTAAHCVGPDVKDLAALRVQLREQHLYYQDQLLPVSRIIVHPQFYTAQIGA
  DIALLELEEPVNVSSHVHTVTLPPASETFPPGMPCWVTGWGDVDNDERLPPPFPLKQVKV
  PIMENHICDAKYHLGAYTGDDVRIVRDDMLCAGNTRRDSCQGDSGGPLVCKVNGTWLQAG
  VVSWGEGCAQPNRPGIYTRVTYYLDWIHHYVPKKP

• Sequence length: 275

Pathways

KEGG:

Influenza A

Reactome:

Activation of Matrix Metalloproteinases

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
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSAUTONOMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DYSAUTONOMIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRURITUS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaphylaxis	Anaphylaxis	Pubtator	37558059	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	18359288		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28933920		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28933920, 37241840	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	40629026	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	CTD_human_DG	27749843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective tissue disease	Pubtator	27749843	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	LHGDN	17205215		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	25797204		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	27749843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysautonomia	Dysautonomia	CTD_human_DG	27749843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosarcoma	Fibrosarcoma	LHGDN	15638376		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	27749843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable Bowel Syndrome	CTD_human_DG	27749843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	27749843	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Calculi	Kidney stone	BEFREE	30584463		★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	34925389	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	LHGDN	17449330		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	31256161		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	32777817	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	37558059	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	12742661		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29137398, 30728907, 31256161		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30584463		★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	27749843	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22871757, 34321876	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17205215		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	34637606	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	34004232	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	27749843	Associate	★☆☆☆☆ Found in Text Mining only