• Gene id: 27013

Gene Summary

• Gene Symbol: CNPPD1   Gene   UCSC   Ensembl
• Aliases: C2orf24, CGI-57
• Gene name: cyclin Pas1/PHO80 domain containing 1
• Alternate names: protein CNPPD1, cyclin Pas1/PHO80 domain-containing protein 1,
• Gene location: 2q35 (219179271: 219171896)     Exons: 12     NC_000002.12
• OMIM: 0

Protein Summary

• Protein general information: Q9BV87  
  • Name: Protein CNPPD1 (Cyclin Pas1/PHO80 domain containing protein 1)
  • Length: 410  
  • Mass: 45456
• Sequence:

  MDLTGLLLDEEGTFSLAGFQDFTFLPGHQKLSARIRRRLYYGWDWEADCSLEELSSPVADIAVELLQKAAPSPIR
  RLQKKYVAHVSREACISPCAMMLALVYIERLRHRNPDYLQHVSSSDLFLISMMVASKYLYDEGEEEEVFNDEWGA
  AGGVAVPTLNALERGFLSAMDWHLYTDPREIFEVLSWLESCVAEQQGRWRGWYTYTDLCVLLEQPTWQLALGSLC
  QRLVKLSCLLAVAYVSSVALAVASVAVIHQSLGLSCIPTPGPPDLGLTSRCLLEPCIPSVPQCLPSLANVSSCLE
  GSMGLRSLWGSLLASLTPPPLPPPDPPAPPTLLHNCHLCQKLQRDSPTCHACLHPNRTVPTALSSPWYHTYGLAP
  PWPWSPVLLSLPQPQQCSLFSVMELARLKSFVFPG

• Structural information:
  • Interpro: IPR013922  
  • STRING: ENSP00000386277
• Other Databases: GeneCards:  CNPPD1  Malacards:  CNPPD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IBA	cellular component
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IBA	molecular function
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881