• Gene id: 339855

Gene Summary

• Gene Symbol: KY   Gene   UCSC   Ensembl
• Aliases: MFM7
• Gene name: kyphoscoliosis peptidase
• Alternate names: kyphoscoliosis peptidase,
• Gene location: 3q22.2 (134656052: 134599922)     Exons: 11     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are
• OMIM: 609996

Protein Summary

• Protein general information: Q8NBH2  
  • Name: Kyphoscoliosis peptidase (EC 3.4. . )
  • Length: 561  
  • Mass: 63855
  • Tissue specificity: Highly expressed in skeletal muscle. {ECO
• Sequence:

  MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHENLVEKQHP
  QQPQVITSYNSQGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQ
  QFEKLDIYASQVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNC
  DGYAGLFERMCRLAGVQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFL
  YNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESC
  APTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQIFAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQ
  PVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASLHGDDGPITEETQRRYIFQLHREKQTELKV
  QLPHAGKFALKIYVMVLENANHNFYSYILKYKVNAQ

• Structural information:
  • Interpro: IPR038765  IPR002931  
  • STRING: ENSP00000397598
• Other Databases: GeneCards:  KY  Malacards:  KY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	ISS	cellular component

Diseases

Associated diseases	References
Myofibrillar myopathies	KEGG:H00595
Myofibrillar myopathies	KEGG:H00595
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