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	Relationship Type	References	Evidence Score
Adenoma	Associate	34744521	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	21765952, 27012814	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Stimulate	34744521	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	21765952, 34744521	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Stimulate	27012814	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	29361914	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	26067391	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	29361914	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27012814, 29361914	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	34744521	★☆☆☆☆ Found in Text Mining only
Plaque Amyloid	Associate	27743375	★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Associate	34744521	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	29361914	★☆☆☆☆ Found in Text Mining only