• Gene id: 158880

Gene Summary

• Gene Symbol: USP51   Gene   UCSC   Ensembl
• Gene name: ubiquitin specific peptidase 51
• Alternate names: ubiquitin carboxyl-terminal hydrolase 51, deubiquitinating enzyme 51, ubiquitin thioesterase 51, ubiquitin thiolesterase 51, ubiquitin-specific-processing protease 51,
• Gene location: Xp11.21 (55489874: 55484523)     Exons: 3     NC_000023.11

Protein Summary

• Protein general information: Q70EK9  
  • Name: Ubiquitin carboxyl terminal hydrolase 51 (EC 3.4.19.12) (Deubiquitinating enzyme 51) (Ubiquitin thioesterase 51) (Ubiquitin specific processing protease 51)
  • Length: 711  
  • Mass: 79756
  • Tissue specificity: Expressed in prostate, brain, lung, aorta and kidney. {ECO
• Sequence:

  MAQVRETSLPSGSGVRWISGGGGGASPEEAVEKAGKMEEAAAGATKASSRREAEEMKLEPLQEREPAPEENLTWS
  SSGGDEKVLPSIPLRCHSSSSPVCPRRKPRPRPQPRARSRSQPGLSAPPPPPARPPPPPPPPPPPAPRPRAWRGS
  RRRSRPGSRPQTRRSCSGDLDGSGDPGGLGDWLLEVEFGQGPTGCSHVESFKVGKNWQKNLRLIYQRFVWSGTPE
  TRKRKAKSCICHVCSTHMNRLHSCLSCVFFGCFTEKHIHKHAETKQHHLAVDLYHGVIYCFMCKDYVYDKDIEQI
  AKETKEKILRLLTSTSTDVSHQQFMTSGFEDKQSTCETKEQEPKLVKPKKKRRKKSVYTVGLRGLINLGNTCFMN
  CIVQALTHIPLLKDFFLSDKHKCIMTSPSLCLVCEMSSLFHAMYSGSRTPHIPYKLLHLIWIHAEHLAGYRQQDA
  HEFLIAILDVLHRHSKDDSGGQEANNPNCCNCIIDQIFTGGLQSDVTCQACHSVSTTIDPCWDISLDLPGSCATF
  DSQNPERADSTVSRDDHIPGIPSLTDCLQWFTRPEHLGSSAKIKCNSCQSYQESTKQLTMKKLPIVACFHLKRFE
  HVGKQRRKINTFISFPLELDMTPFLASTKESRMKEGQPPTDCVPNENKYSLFAVINHHGTLESGHYTSFIRQQKD
  QWFSCDDAIITKATIEDLLYSEGYLLFYHKQGLEKD

• Structural information:
  • Protein Domains: (363..70-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR018200  IPR028889  IPR013083   IPR001607  
  • Prosite: PS00972 PS00973 PS50235 PS50271
  • STRING: ENSP00000423333
• Other Databases: GeneCards:  USP51  Malacards:  USP51

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001020	regulation of response to DNA damage stimulus	IDA	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0010569	regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:0016578	histone deubiquitination	IMP	biological process
GO:0010564	regulation of cell cycle process	IMP	biological process
GO:2001032	regulation of double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)