• Gene id: 9929

Gene Summary

• Gene Symbol: JOSD1   Gene   UCSC   Ensembl
• Aliases: dJ508I15.2
• Gene name: Josephin domain containing 1
• Alternate names: josephin-1, josephin domain-containing 1, josephin domain-containing protein 1,
• Gene location: 22q13.1 (38701402: 38683915)     Exons: 7     NC_000022.11

Protein Summary

• Protein general information: Q15040  
  • Name: Josephin 1 (EC 3.4.19.12) (Josephin domain containing protein 1)
  • Length: 202  
  • Mass: 23198
• Sequence:

  MSCVPWKGDKAKSESLELPQAAPPQIYHEKQRRELCALHALNNVFQDSNAFTRDTLQEIFQRLSPNTMVTPHKKS
  MLGNGNYDVNVIMAALQTKGYEAVWWDKRRDVGVIALTNVMGFIMNLPSSLCWGPLKLPLKRQHWICVREVGGAY
  YNLDSKLKMPEWIGGESELRKFLKHHLRGKNCELLLVVPEEVEAHQSWRTDV

• Structural information:
  • Protein Domains: (23..20-)
    (/note="Josephin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00331"-)
  • Interpro: IPR040053  IPR006155  
  • Prosite: PS50957
  • STRING: ENSP00000216039
• Other Databases: GeneCards:  JOSD1  Malacards:  JOSD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0016579	protein deubiquitination	IBA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	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: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: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: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:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	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