• Gene id: 116729

Gene Summary

• Gene Symbol: PPP1R27   Gene   UCSC   Ensembl
• Aliases: DYSFIP1
• Gene name: protein phosphatase 1 regulatory subunit 27
• Alternate names: protein phosphatase 1 regulatory subunit 27, dysferlin interacting protein 1, dysferlin-interacting protein 1 (toonin), toonin,
• Gene location: 17q25.3 (81835049: 81833491)     Exons: 3     NC_000017.11

Protein Summary

• Protein general information: Q86WC6  
  • Name: Protein phosphatase 1 regulatory subunit 27 (Dysferlin interacting protein 1) (Toonin)
  • Length: 154  
  • Mass: 17438
• Sequence:

  MPSRTARYARYSPRQRRRRMLADRSVRFPNDVLFLDHIRQGDLEQVGRFIRTRKVSLATIHPSGLAALHEAVLSG
  NLECVKLLVKYGADIHQRDEAGWTPLHIACSDGYPDIARYLISLGADRDATNDDGDLPSDLIDPDYKELVELFKG
  TTMD

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000331065
• Other Databases: GeneCards:  PPP1R27  Malacards:  PPP1R27

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019902	phosphatase binding	IBA	molecular function
GO:0010923	negative regulation of phosphatase activity	IBA	biological process
GO:0019902	phosphatase binding	IDA	molecular function
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0004864	protein phosphatase inhibitor activity	IEA	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:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq