USP50 (ubiquitin specific peptidase 50)

Gene

• Entrez ID: 373509
• Gene name: Ubiquitin specific peptidase 50
• Gene symbol: USP50
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q21.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	28094437, 36876523
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005634	Component	Nucleus	IDA	20930503
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	20930503
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20930503
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0016579	Process	Protein deubiquitination	IDA	28094437
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019783	Function	Ubiquitin-like protein peptidase activity	IDA	28094437
GO:0030496	Component	Midbody	IBA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IMP	28094437
GO:0032741	Process	Positive regulation of interleukin-18 production	IEA
GO:0035063	Process	Nuclear speck organization	IMP	28094437
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IEA
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IMP	28094437
GO:1902749	Process	Regulation of cell cycle G2/M phase transition	IMP	20930503

Other IDs

• MIM: 620563
• HGNC: 20079
• e!Ensembl: ENSG00000170236

Protein

• UniProt ID: Q70EL3
• Protein name: Ubiquitin carboxyl-terminal hydrolase 50 (EC 3.4.19.12) (Ubiquitin-specific peptidase 50)
• Protein function: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates the inflammasome signaling pathway by deubiquitinating 'Lys-63'-linked polyubiquitination of the PYCARD/ASC adap
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00443	UCH	44 → 338	Ubiquitin carboxyl-terminal hydrolase	Family

• Tissue specificity: TISSUE SPECIFICITY: Weakly expressed in a few tissues. {ECO:0000269|PubMed:14715245}.
• Sequence:

  MTSQPSLPADDFDIYHVLAECTDYYDTLPVKEADGNQPHFQGVTGLWNLGNTCCVNAISQ
  CLCSILPLVEYFLTGKYITALQKFLLPSDCSEVATAFAYLMTDMWLGDSDCVSPEIFWSA
  LGNLYPAFTKKMQQDAQEFLICVLNELHEALKKYHYSRRRSYEKGSTQRCCRKWITTETS
  IITQLFEEQLNYSIVCLKCEKCTYKNEVFTVFSLPIPSKYECSLRDCLQCFFQQDALTWN
  NEIHCSFCETKQETAVRASISKAPKIIIFHLKRFDIQGTTKRKLRTDIHYPLTNLDLTPY
  ICSIFRKYPKYNLCAVVNHFGDLDGGHYTAFCKNSVTQA

• Sequence length: 339

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Long QT Syndrome	Long qt syndrome	Pubtator	27988371	Associate	★☆☆☆☆ Found in Text Mining only