PRSS50 (serine protease 50)

Gene

• Entrez ID: 29122
• Gene name: Serine protease 50
• Gene symbol: PRSS50
• Synonyms (NCBI Gene): CT20, TSP50
• Chromosome: 3
• Chromosome location: 3p21.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022955	hsa-miR-124-3p	Microarray	18668037

Transcription factors

Transcription factor	Regulation	Reference
CEBPB	Activation	18462069
SP1	Activation	18462069

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004298	Function	Threonine-type endopeptidase activity	IBA
GO:0004298	Function	Threonine-type endopeptidase activity	IEA
GO:0004298	Function	Threonine-type endopeptidase activity	IMP	17283160
GO:0005737	Component	Cytoplasm	IDA	17283160
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	17283160
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006508	Process	Proteolysis	IDA	17283160
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 607950
• HGNC: 17910
• e!Ensembl: ENSG00000283706

Protein

• UniProt ID: Q9UI38
• Protein name: Probable threonine protease PRSS50 (EC 3.4.25.-) (Cancer/testis antigen 20) (Serine protease 50) (Testis-specific protease-like protein 50)
• Protein function: May be involved in proteolysis through its threonine endopeptidase activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	115 → 353	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Testis specific. Differentially expressed in some breast cancer tissues.
• Sequence:

  MGRWCQTVARGQRPRTSAPSRAGALLLLLLLLRSAGCWGAGEAPGALSTADPADQSVQCV
  PKATCPSSRPRLLWQTPTTQTLPSTTMETQFPVSEGKVDPYRSCGFSYEQDPTLRDPEAV
  ARRWPWMVSVRANGTHICAGTIIASQWVLTVAHCLIWRDVIYSVRVGSPWIDQMTQTASD
  VPVLQVIMHSRYRAQRFWSWVGQANDIGLLKLKQELKYSNYVRPICLPGTDYVLKDHSRC
  TVTGWGLSKADGMWPQFRTIQEKEVIILNNKECDNFYHNFTKIPTLVQIIKSQMMCAEDT
  HREKFCYELTGEPLVCSMEGTWYLVGLVSWGAGCQKSEAPPIYLQVSSYQHWIWDCLNGQ
  ALALPAPSRTLLLALPLPLSLLAAL

• Sequence length: 385

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma of large intestine	Colorectal adenoma	BEFREE	21765952		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	26067391		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10397268, 11782390, 17283160, 18462069, 21765952, 22574111, 25811800, 28650473, 29805619		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21765952, 27012814	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34744521	Stimulate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25312478		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25312478		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21765952, 29805619		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21765952, 34744521	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25077921		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29361914	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	26067391	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10397268, 11782390, 17283160, 18462069, 21765952, 22574111, 28650473, 29805619		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29361914		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25077921, 25399078, 25811800, 27039397, 27109614		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25312478		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11782390		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11782390		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25077921		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21765952, 25049081, 25811800, 26855338, 28650473, 29805619		★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	LHGDN	15491742		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27109614, 29805619		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29361914		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29361914	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	25312478		★☆☆☆☆ Found in Text Mining only