• Gene id: 220213

Gene Summary

• Gene Symbol: OTUD1   Gene   UCSC   Ensembl
• Aliases: DUBA7, OTDC1
• Gene name: OTU deubiquitinase 1
• Alternate names: OTU domain-containing protein 1, DUBA-7, OTU domain containing 1,
• Gene location: 10p12.2 (23439268: 23442380)     Exons: 1     NC_000010.11
• Gene summary(Entrez): Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by
• OMIM: 611758

Protein Summary

• Protein general information: Q5VV17  
  • Name: OTU domain containing protein 1 (EC 3.4.19.12) (DUBA 7)
  • Length: 481  
  • Mass: 51063
• Sequence:

  MQLYSSVCTHYPAGAPGPTAAAPAPPAAATPFKVSLQPPGAAGAAPEPETGECQPAAAAEHREAAAVPAAKMPAF
  SSCFEVVSGAAAPASAAAGPPGASCKPPLPPHYTSTAQITVRALGADRLLLHGPDPVPGAAGSAAAPRGRCLLLA
  PAPAAPVPPRRGSSAWLLEELLRPDCPEPAGLDATREGPDRNFRLSEHRQALAAAKHRGPAATPGSPDPGPGPWG
  EEHLAERGPRGWERGGDRCDAPGGDAARRPDPEAEAPPAGSIEAAPSSAAEPVIVSRSDPRDEKLALYLAEVEKQ
  DKYLRQRNKYRFHIIPDGNCLYRAVSKTVYGDQSLHRELREQTVHYIADHLDHFSPLIEGDVGEFIIAAAQDGAW
  AGYPELLAMGQMLNVNIHLTTGGRLESPTVSTMIHYLGPEDSLRPSIWLSWLSNGHYDAVFDHSYPNPEYDNWCK
  QTQVQRKRDEELAKSMAISLSKMYIEQNACS

• Structural information:
  • Protein Domains: (309..43-)
    (/note="OTU-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00139-)
    (457..47-)
    (/note="UIM-)
    (/evidence="ECO:0000305"-)
  • Interpro: IPR003323  IPR038765  
  • Prosite: PS50802
  • PDB: 4BOP
  • PDBsum: 4BOP
  • STRING: ENSP00000365678
• Other Databases: GeneCards:  OTUD1  Malacards:  OTUD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070536	protein K63-linked deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0070536	protein K63-linked deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function

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