• Gene id: 84902

Gene Summary

• Gene Symbol: CEP89   Gene   UCSC   Ensembl
• Aliases: CCDC123, CEP123
• Gene name: centrosomal protein 89
• Alternate names: centrosomal protein of 89 kDa, centrosomal protein 123, centrosomal protein 89kDa, coiled-coil domain containing 123, coiled-coil domain-containing protein 123, mitochondrial,
• Gene location: 19q13.11 (32972023: 32875924)     Exons: 22     NC_000019.10
• OMIM: 615470

Protein Summary

• Protein general information: Q96ST8  
  • Name: Centrosomal protein of 89 kDa (Cep89) (Centrosomal protein 123) (Cep123) (Coiled coil domain containing protein 123)
  • Length: 783  
  • Mass: 89590
• Sequence:

  MLLGFRRGRRSHFKHIIHGLLPAASVAPKAAVPRTPPPRSPNPSPERPRSALAAAILATTLTGRTVAIPQPRQRS
  RSESDVSSVEQDSFIEPYATTSQLRPRPNWQSEMGRRSSLPSFETLDYGDEEDIETQLSSSGKELGDVSAREDRG
  GHSDDLYAVPHRNQVPLLHEVNSEDDENISHQDGFPGSPPAPQRTQQKDGKHPVLNLKDEKPPLCEKPPPSPDIT
  GRARQRYTEITREKFEALKEENMDLNNMNQSLTLELNTMKQAMKELQLKLKGMEKEKRKLKEAEKASSQEVAAPE
  LLYLRKQAQELVDENDGLKMTVHRLNVELSRYQTKFRHLSKEESLNIEGLPSKGPIPPWLLDIKYLSPLLLAYED
  MMKEKDELNATLKEEMRMFRMRVQEVVKENEELHQELNKSSAVTSEEWRQLQTQAKLVLEENKLLLEQLEIQQRK
  AKDSHQERLQEVSKLTKQLMLLEAKTHGQEKELAENREQLEILRAKCQELKTHSDGKIAVEVHKSIVNELKSQLQ
  KEEEKERAEMEELMEKLTVLQAQKKSLLLEKNSLTEQNKALEAELERAQKINRKSQKKIEVLKKQVEKAMGNEMS
  AHQYLANLVGLAENITQERDSLMCLAKCLESEKDGVLNKVIKSNIRLGKLEEKVKGYKKQAALKLGDISHRLLEQ
  QEDFAGKTAQYRQEMRHLHQVLKDKQEVLDQALQQNREMEGELEVIWESTFRENRRIRELLQDTLTRTGVQDNPR
  ALVAPSLNGVSQADLLDGCDVCSYDLKSHAPTC

• Structural information:
  • Interpro: IPR033545  
  • DIP: 47325
  • STRING: ENSP00000306105
• Other Databases: GeneCards:  CEP89  Malacards:  CEP89

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097539	ciliary transition fiber	IDA	cellular component
GO:0060271	cilium assembly	IMP	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:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0097539	ciliary transition fiber	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1905515	non-motile cilium assembly	IMP	biological process
GO:0097539	ciliary transition fiber	IDA	cellular component
GO:0097730	non-motile cilium	IDA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq