• Gene id: 389856

Gene Summary

• Gene Symbol: USP27X   Gene   UCSC   Ensembl
• Aliases: MRX105, USP22L, USP27
• Gene name: ubiquitin specific peptidase 27 X-linked
• Alternate names: ubiquitin carboxyl-terminal hydrolase 27, X-linked ubiquitin carboxyl-terminal hydrolase 27, deubiquitinating enzyme 27, ubiquitin specific protease 27, X chromosome, ubiquitin thioesterase 27, ubiquitin-specific-processing protease 27,
• Gene location: Xp11.23 (49879483: 49882557)     Exons: 10     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to coun
• OMIM: 300975

Protein Summary

• Protein general information: A6NNY8  
  • Name: Ubiquitin carboxyl terminal hydrolase 27 (EC 3.4.19.12) (Deubiquitinating enzyme 27) (Ubiquitin carboxyl terminal hydrolase 22 like) (Ubiquitin thioesterase 27) (Ubiquitin specific processing protease 27) (X linked ubiquitin carboxyl terminal hydrolase 27
  • Length: 438  
  • Mass: 49630
• Sequence:

  MCKDYVYDKDIEQIAKEEQGEALKLQASTSTEVSHQQCSVPGLGEKFPTWETTKPELELLGHNPRRRRITSSFTI
  GLRGLINLGNTCFMNCIVQALTHTPILRDFFLSDRHRCEMPSPELCLVCEMSSLFRELYSGNPSPHVPYKLLHLV
  WIHARHLAGYRQQDAHEFLIAALDVLHRHCKGDDVGKAANNPNHCNCIIDQIFTGGLQSDVTCQACHGVSTTIDP
  CWDISLDLPGSCTSFWPMSPGRESSVNGESHIPGITTLTDCLRRFTRPEHLGSSAKIKCGSCQSYQESTKQLTMN
  KLPVVACFHFKRFEHSAKQRRKITTYISFPLELDMTPFMASSKESRMNGQLQLPTNSGNNENKYSLFAVVNHQGT
  LESGHYTSFIRHHKDQWFKCDDAVITKASIKDVLDSEGYLLFYHKQVLEHESEKVKEMNTQAY

• Structural information:
  • Protein Domains: (78..42-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  
  • Prosite: PS00972 PS00973 PS50235
  • STRING: ENSP00000483631
• Other Databases: GeneCards:  USP27X  Malacards:  USP27X

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004843	thiol-dependent ubiquitin-specific protease activity	ISS	molecular function
GO:0070536	protein K63-linked deubiquitination	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:1990380	Lys48-specific deubiquitinase activity	ISS	molecular function
GO:0061578	Lys63-specific deubiquitinase activity	ISS	molecular function
GO:0071108	protein K48-linked deubiquitination	ISS	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0016579	protein deubiquitination	ISS	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:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase 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:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:1990380	Lys48-specific deubiquitinase activity	IEA	molecular function
GO:0071108	protein K48-linked deubiquitination	IEA	biological process
GO:0061578	Lys63-specific deubiquitinase activity	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0070536	protein K63-linked deubiquitination	IEA	biological process
GO:0050821	protein stabilization	IEA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
X-linked mental retardation	KEGG:H00480
X-linked mental retardation	KEGG:H00480
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)