• Gene id: 10428

Gene Summary

• Gene Symbol: CFDP1   Gene   UCSC   Ensembl
• Aliases: BCNT, BUCENTAUR, CENP-29, CP27, SWC5, Yeti, p97
• Gene name: craniofacial development protein 1
• Alternate names: craniofacial development protein 1, centromere protein 29, phosphoprotein (Bucentaur),
• Gene location: 16q23.1 (75433502: 75293709)     Exons: 11     NC_000016.10
• OMIM: 600413

Protein Summary

• Protein general information: Q9UEE9  
  • Name: Craniofacial development protein 1 (Bucentaur)
  • Length: 299  
  • Mass: 33593
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MEEFDSEDFSTSEEDEDYVPSGGEYSEDDVNELVKEDEVDGEEQTQKTQGKKRKAQSIPARKRRQGGLSLEEEEE
  EDANSESEGSSSEEEDDAAEQEKGIGSEDARKKKEDELWASFLNDVGPKSKVPPSTQVKKGEETEETSSSKLLVK
  AEELEKPKETEKVKITKVFDFAGEEVRVTKEVDATSKEAKSFFKQNEKEKPQANVPSALPSLPAGSGLKRSSGMS
  SLLGKIGAKKQKMSTLEKSKLDWESFKEEEGIGEELAIHNRGKEGYIERKAFLDRVDHRQFEIERDLRLSKMKP

• Structural information:
  • Protein Domains: (218..29-)
    (/note="BCNT-C-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00610"-)
  • Interpro: IPR011421  
  • Prosite: PS51279
  • STRING: ENSP00000283882
• Other Databases: GeneCards:  CFDP1  Malacards:  CFDP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000776	kinetochore	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:2000270	negative regulation of fibroblast apoptotic process	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq