• Gene id: 11274

Gene Summary

• Gene Symbol: USP18   Gene   UCSC   Ensembl
• Aliases: ISG43, PTORCH2, UBP43
• Gene name: ubiquitin specific peptidase 18
• Alternate names: ubl carboxyl-terminal hydrolase 18, 43 kDa ISG15-specific protease, ISG15-specific-processing protease, hUBP43, ubiquitin specific protease 18, ubl thioesterase 18, ubl thiolesterase 18,
• Gene location: 22q11.21 (18149854: 18177396)     Exons: 11     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein eff
• OMIM: 118493

Protein Summary

• Protein general information: Q9UMW8  
  • Name: Ubl carboxyl terminal hydrolase 18 (EC 3.4.19. ) (43 kDa ISG15 specific protease) (hUBP43) (ISG15 specific processing protease) (Ubl thioesterase 18)
  • Length: 372  
  • Mass: 43011
• Sequence:

  MSKAFGLLRQICQSILAESSQSPADLEEKKEEDSNMKREQPRERPRAWDYPHGLVGLHNIGQTCCLNSLIQVFVM
  NVDFTRILKRITVPRGADEQRRSVPFQMLLLLEKMQDSRQKAVRPLELAYCLQKCNVPLFVQHDAAQLYLKLWNL
  IKDQITDVHLVERLQALYTIRVKDSLICVDCAMESSRNSSMLTLPLSLFDVDSKPLKTLEDALHCFFQPRELSSK
  SKCFCENCGKKTRGKQVLKLTHLPQTLTIHLMRFSIRNSQTRKICHSLYFPQSLDFSQILPMKRESCDAEEQSGG
  QYELFAVIAHVGMADSGHYCVYIRNAVDGKWFCFNDSNICLVSWEDIQCTYGNPNYHWQETAYLLVYMKMEC

• Structural information:
  • Protein Domains: (55..37-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • DIP: 42723
  • STRING: ENSP00000215794
• Other Databases: GeneCards:  USP18  Malacards:  USP18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004197	cysteine-type endopeptidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0016579	protein deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0050727	regulation of inflammatory response	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0060338	regulation of type I interferon-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq