• Gene id: 51134

Gene Summary

• Gene Symbol: CEP83   Gene   UCSC   Ensembl
• Aliases: CCDC41, NPHP18, NY-REN-58
• Gene name: centrosomal protein 83
• Alternate names: centrosomal protein of 83 kDa, NY-REN-58 antigen, coiled-coil domain-containing protein 41, renal carcinoma antigen NY-REN-58,
• Gene location: 12q22 (94460615: 94265651)     Exons: 31     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]

Protein Summary

• Protein general information: Q9Y592  
  • Name: Centrosomal protein of 83 kDa (Cep83) (Coiled coil domain containing protein 41) (Renal carcinoma antigen NY REN 58)
  • Length: 701  
  • Mass: 82940
• Sequence:

  MVVSTFTDMDTFPNNFPPGGDSGLTGSQSEFQKMLIDERLRCEHHKANYQTLKAEHTRLQNEHVKLQNELKHLFN
  EKQTQQEKLQLLLEELRGELVEKTKDLEEMKLQILTPQKLELLRAQIQQELETPMRERFRNLDEEVEKYRAVYNK
  LRYEHTFLKSEFEHQKEEYARILDEGKIKYESEIARLEEDKEELRNQLLNVDLTKDSKRVEQLAREKVYLCQKLK
  GLEAEVAELKAEKENSEAQVENAQRIQVRQLAEMQATVRSLEAEKQSANLRAERLEKELQSSSEQNTFLINKLHK
  AEREINTLSSKVKELKHSNKLEITDIKLETARAKSELERERNKIQSELDGLQSDNEILKAAVEHHKVLLVEKDRE
  LIRKVQAAKEEGYQKLVVLQDEKLELENRLADLEKMKVEHDVWRQSEKDQYEEKLRASQMAEEITRKELQSVRLK
  LQQQIVTIENAEKEKNENSDLKQQISSLQIQVTSLAQSENDLLNSNQMLKEMVERLKQECRNFRSQAEKAQLEAE
  KTLEEKQIQWLEEKHKLHERITDREEKYNQAKEKLQRAAIAQKKRKSLHENKLKRLQEKVEVLEAKKEELETENQ
  VLNRQNVPFEDYTRLQKRLKDIQRRHNEFRSLILVPNMPPTASINPVSFQSSAMVPSMELPFPPHMQEEQHQREL
  SLLRKRLEELETTQRKQLEELGSSGE

• Structural information:
  • Interpro: IPR029631  
  • STRING: ENSP00000380911
• Other Databases: GeneCards:  CEP83  Malacards:  CEP83

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0048278	vesicle docking	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048278	vesicle docking	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:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097539	ciliary transition fiber	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0071539	protein localization to centrosome	IMP	biological process
GO:0071539	protein localization to centrosome	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:0060271	cilium assembly	IEA	biological process
GO:0051660	establishment of centrosome localization	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Nephronophthisis	KEGG:H00537
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R