PRSS8 (serine protease 8)

Gene

• Entrez ID: 5652
• Gene name: Serine protease 8
• Gene symbol: PRSS8
• Synonyms (NCBI Gene): CAP1, PROSTASIN
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018875	hsa-miR-335-5p	Microarray	18185580
MIRT1268620	hsa-miR-1224-3p	CLIP-seq
MIRT1268621	hsa-miR-1252	CLIP-seq
MIRT1268622	hsa-miR-1260	CLIP-seq
MIRT1268623	hsa-miR-1260b	CLIP-seq
MIRT1268624	hsa-miR-1280	CLIP-seq
MIRT1268625	hsa-miR-24	CLIP-seq
MIRT1268626	hsa-miR-3074-5p	CLIP-seq
MIRT1268627	hsa-miR-31	CLIP-seq
MIRT1268628	hsa-miR-3124-3p	CLIP-seq
MIRT1268629	hsa-miR-3909	CLIP-seq
MIRT1268630	hsa-miR-4260	CLIP-seq
MIRT1268631	hsa-miR-4284	CLIP-seq
MIRT1268632	hsa-miR-4421	CLIP-seq
MIRT1268633	hsa-miR-4476	CLIP-seq
MIRT1268634	hsa-miR-4533	CLIP-seq
MIRT1268635	hsa-miR-532-3p	CLIP-seq
MIRT2078912	hsa-miR-103b	CLIP-seq
MIRT1268625	hsa-miR-24	CLIP-seq
MIRT2078913	hsa-miR-345	CLIP-seq
MIRT2078914	hsa-miR-376a	CLIP-seq
MIRT2078915	hsa-miR-376b	CLIP-seq
MIRT2078916	hsa-miR-4276	CLIP-seq
MIRT2078917	hsa-miR-4522	CLIP-seq
MIRT2078918	hsa-miR-4797-3p	CLIP-seq
MIRT2078919	hsa-miR-663b	CLIP-seq
MIRT2078912	hsa-miR-103b	CLIP-seq
MIRT1268620	hsa-miR-1224-3p	CLIP-seq
MIRT1268622	hsa-miR-1260	CLIP-seq
MIRT1268623	hsa-miR-1260b	CLIP-seq
MIRT1268624	hsa-miR-1280	CLIP-seq
MIRT2305151	hsa-miR-1285	CLIP-seq
MIRT2305152	hsa-miR-146b-3p	CLIP-seq
MIRT2305153	hsa-miR-1587	CLIP-seq
MIRT2305154	hsa-miR-1912	CLIP-seq
MIRT2305155	hsa-miR-1913	CLIP-seq
MIRT2305156	hsa-miR-1915	CLIP-seq
MIRT2305157	hsa-miR-2355-5p	CLIP-seq
MIRT1268625	hsa-miR-24	CLIP-seq
MIRT2305158	hsa-miR-28-5p	CLIP-seq
MIRT1268626	hsa-miR-3074-5p	CLIP-seq
MIRT1268627	hsa-miR-31	CLIP-seq
MIRT1268628	hsa-miR-3124-3p	CLIP-seq
MIRT2305159	hsa-miR-3127-5p	CLIP-seq
MIRT2305160	hsa-miR-3139	CLIP-seq
MIRT2305161	hsa-miR-3155	CLIP-seq
MIRT2305162	hsa-miR-3155b	CLIP-seq
MIRT2305163	hsa-miR-3173-5p	CLIP-seq
MIRT2305164	hsa-miR-3180-5p	CLIP-seq
MIRT2305165	hsa-miR-3187-5p	CLIP-seq
MIRT2305166	hsa-miR-3194-5p	CLIP-seq
MIRT2305167	hsa-miR-324-3p	CLIP-seq
MIRT2305168	hsa-miR-324-5p	CLIP-seq
MIRT2078913	hsa-miR-345	CLIP-seq
MIRT2305169	hsa-miR-3659	CLIP-seq
MIRT2078914	hsa-miR-376a	CLIP-seq
MIRT2078915	hsa-miR-376b	CLIP-seq
MIRT2305170	hsa-miR-378g	CLIP-seq
MIRT1268629	hsa-miR-3909	CLIP-seq
MIRT2305171	hsa-miR-3918	CLIP-seq
MIRT2305172	hsa-miR-3937	CLIP-seq
MIRT1268630	hsa-miR-4260	CLIP-seq
MIRT2305173	hsa-miR-4274	CLIP-seq
MIRT2078916	hsa-miR-4276	CLIP-seq
MIRT2305174	hsa-miR-4281	CLIP-seq
MIRT2305175	hsa-miR-4300	CLIP-seq
MIRT1268632	hsa-miR-4421	CLIP-seq
MIRT2305176	hsa-miR-4433	CLIP-seq
MIRT2305177	hsa-miR-4486	CLIP-seq
MIRT2305178	hsa-miR-4492	CLIP-seq
MIRT2305179	hsa-miR-4498	CLIP-seq
MIRT2078917	hsa-miR-4522	CLIP-seq
MIRT2305180	hsa-miR-4529-5p	CLIP-seq
MIRT1268634	hsa-miR-4533	CLIP-seq
MIRT2305181	hsa-miR-4656	CLIP-seq
MIRT2305182	hsa-miR-4658	CLIP-seq
MIRT2305183	hsa-miR-4662a-5p	CLIP-seq
MIRT2305184	hsa-miR-4674	CLIP-seq
MIRT2305185	hsa-miR-4675	CLIP-seq
MIRT2305186	hsa-miR-4685-5p	CLIP-seq
MIRT2305187	hsa-miR-4726-3p	CLIP-seq
MIRT2305188	hsa-miR-4727-5p	CLIP-seq
MIRT2305189	hsa-miR-4741	CLIP-seq
MIRT2305190	hsa-miR-4747-5p	CLIP-seq
MIRT2305191	hsa-miR-4753-5p	CLIP-seq
MIRT2305192	hsa-miR-4758-5p	CLIP-seq
MIRT2305193	hsa-miR-4787-5p	CLIP-seq
MIRT2078918	hsa-miR-4797-3p	CLIP-seq
MIRT2305194	hsa-miR-484	CLIP-seq
MIRT2305195	hsa-miR-520a-5p	CLIP-seq
MIRT2305196	hsa-miR-525-5p	CLIP-seq
MIRT1268635	hsa-miR-532-3p	CLIP-seq
MIRT2305197	hsa-miR-544	CLIP-seq
MIRT2305198	hsa-miR-552	CLIP-seq
MIRT2305199	hsa-miR-574-5p	CLIP-seq
MIRT2305200	hsa-miR-612	CLIP-seq
MIRT2305201	hsa-miR-622	CLIP-seq
MIRT2078919	hsa-miR-663b	CLIP-seq
MIRT2305202	hsa-miR-708	CLIP-seq
MIRT2305203	hsa-miR-762	CLIP-seq
MIRT2305204	hsa-miR-874	CLIP-seq
MIRT2305205	hsa-miR-920	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SREBF2	Unknown	16806080

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	19911255
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	10077646
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	TAS	10077646
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19911255
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7768952
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	8034638
GO:0010765	Process	Positive regulation of sodium ion transport	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145

Other IDs

• MIM: 600823
• HGNC: 9491
• e!Ensembl: ENSG00000052344

Protein

• UniProt ID: Q16651
• Protein name: Prostasin (EC 3.4.21.-) (Channel-activating protease 1) (CAP1) (Serine protease 8) [Cleaved into: Prostasin light chain; Prostasin heavy chain]
• Protein function: Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). {ECO:0000269|PubMed:15246975, ECO:0000269
• PDB: 3DFJ, 3DFL, 3E0N, 3E0P, 3E16, 3E1X, 3FVF, 3GYL, 3GYM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	45 → 281	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in prostate, liver, salivary gland, kidney, lung, pancreas, colon, bronchus and renal proximal tubular cells. In the prostate gland it may be synthesized in epithelial cells, secreted into the ducts, and excreted into the seminal
• Sequence:

  MAQKGVLGPGQLGAVAILLYLGLLRSGTGAEGAEAPCGVAPQARITGGSSAVAGQWPWQV
  SITYEGVHVCGGSLVSEQWVLSAAHCFPSEHHKEAYEVKLGAHQLDSYSEDAKVSTLKDI
  IPHPSYLQEGSQGDIALLQLSRPITFSRYIRPICLPAANASFPNGLHCTVTGWGHVAPSV
  SLLTPKPLQQLEVPLISRETCNCLYNIDAKPEEPHFVQEDMVCAGYVEGGKDACQGDSGG
  PLSCPVEGLWYLTGIVSWGDACGARNRPGVYTLASSYASWIQSKVTELQPRVVPQTQESQ
  PDSNLCGSHLAFSSAPAQGLLRPILFLPLGLALGLLSPWLSEH

• Sequence length: 343

Pathways

Reactome:

Formation of the cornified envelope

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
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PREGNANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40037332	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21678412		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24434518, 34240739	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27036110		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19606239	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31998788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	19849847	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	26715240	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11584061, 27036110		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30115975		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19555470	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35263363	Associate	★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	15246975, 18310226		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	15246975	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	18310226	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	22705055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	24614850		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24614850		★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Embryopathies	Embryopathy	CTD_human_DG	22705055		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27081034	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	21933610		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Fetal Diseases	Fetal Diseases	CTD_human_DG	22705055		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27983922		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	12626364		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18583984, 18922802	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12626364, 18583984		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18583984		★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	30115975		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27915333		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21678412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11584061, 27036110		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14991861		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16541421		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27036110		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27081034, 27915333, 27983922, 30115975		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12738714, 20386466, 27036110, 27081034, 27915333, 27983914, 27983922, 30115975		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	24722141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27983914		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11584061, 27036110		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19606239	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24434518, 25188517, 27036110, 34823420	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	LHGDN	17145811		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	19849847	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14991861		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16541421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35263363	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17145811		★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27081034		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	19849847		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	24722141		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	19849847		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27036110, 34905506	Associate	★☆☆☆☆ Found in Text Mining only