• Gene id: 51645

Gene Summary

• Gene Symbol: PPIL1   Gene   UCSC   Ensembl
• Aliases: CGI-124, CYPL1, PPIase, hCyPX
• Gene name: peptidylprolyl isomerase like 1
• Alternate names: peptidyl-prolyl cis-trans isomerase-like 1, cyclophilin like 1, cyclophilin-related gene 1, peptidyl-prolyl cis-trans isomerase, peptidylprolyl isomerase (cyclophilin)-like 1, rotamase PPIL1,
• Gene location: 6p21.2 (36874802: 36854828)     Exons: 4     NC_000006.12
• Gene summary(Entrez): This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infecti
• OMIM: 601301

Protein Summary

• Protein general information: Q9Y3C6  
  • Name: Peptidyl prolyl cis trans isomerase like 1 (PPIase) (EC 5.2.1.8) (Rotamase PPIL1)
  • Length: 166  
  • Mass: 18237
  • Tissue specificity: Ubiquitous, with the most abundant expression in heart and skeletal muscle.
• Sequence:

  MAAIPPDSWQPPNVYLETSMGIIVLELYWKHAPKTCKNFAELARRGYYNGTKFHRIIKDFMIQGGDPTGTGRGGA
  SIYGKQFEDELHPDLKFTGAGILAMANAGPDTNGSQFFVTLAPTQWLDGKHTIFGRVCQGIGMVNRVGMVETNSQ
  DRPVDDVKIIKAYPSG

• Structural information:
  • Protein Domains: (10..16-)
    (/note="PPIase-cyclophilin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00156"-)
  • Interpro: IPR029000  IPR024936  IPR020892  IPR002130  
  • Prosite: PS00170 PS50072
  • PDB: 1XWN 2K7N 2X7K 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • PDBsum: 1XWN 2K7N 2X7K 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • STRING: ENSP00000362803
• Other Databases: GeneCards:  PPIL1  Malacards:  PPIL1

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881