• Gene id: 11116

Gene Summary

• Gene Symbol: CEP43   Gene   UCSC   Ensembl
• Aliases: FGFR1OP, FOP
• Gene name: centrosomal protein 43
• Alternate names: FGFR1 oncogene partner, fibroblast growth factor receptor 1 oncogene partner,
• Gene location: 6q27 (7188652: 7218573)     Exons: 23     NC_000012.12
• Gene summary(Entrez): This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has
• OMIM: 605392

Protein Summary

• Protein general information: O95684  
  • Name: FGFR1 oncogene partner
  • Length: 399  
  • Mass: 43065
  • Tissue specificity: Ubiquitous. Highly expressed in heart, liver, muscle, kidney, intestine, colon, adrenal gland, prostate, testis, and pancreas. {ECO
• Sequence:

  MAATAAAVVAEEDTELRDLLVQTLENSGVLNRIKAELRAAVFLALEEQEKVENKTPLVNESLKKFLNTKDGRLVA
  SLVAEFLQFFNLDFTLAVFQPETSTLQGLEGRENLARDLGIIEAEGTVGGPLLLEVIRRCQQKEKGPTTGEGALD
  LSDVHSPPKSPEGKTSAQTTPSKIPRYKGQGKKKTSGQKAGDKKANDEANQSDTSVSLSEPKSKSSLHLLSHETK
  IGSFLSNRTLDGKDKAGLCPDEDDMEGDSFFDDPIPKPEKTYGLRKEPRKQAGSLASLSDAPPLKSGLSSLAGAP
  SLKDSESKRGNTVLKDLKLISDKIGSLGLGTGEDDDYVDDFNSTSHRSEKSEISIGEEIEEDLSVEIDDINTSDK
  LDDLTQDLTVSQLSDVADYLEDVA

• Structural information:
  • Protein Domains: (70..10-)
    (/note="LisH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00126"-)
  • Interpro: IPR018993  IPR006594  
  • Prosite: PS50896
  • PDB: 2D68
  • PDBsum: 2D68
  • STRING: ENSP00000355812
• Other Databases: GeneCards:  CEP43  Malacards:  CEP43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005814	centriole	IDA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0034453	microtubule anchoring	IEA	biological process
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0061099	negative regulation of protein tyrosine kinase activity	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030292	protein tyrosine kinase inhibitor activity	IDA	molecular function
GO:0006469	negative regulation of protein kinase activity	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0019901	protein kinase 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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R