• Gene id: 22897

Gene Summary

• Gene Symbol: CEP164   Gene   UCSC   Ensembl
• Aliases: NPHP15
• Gene name: centrosomal protein 164
• Alternate names: centrosomal protein of 164 kDa, centrosomal protein 164kDa,
• Gene location: 11q23.3 (117316345: 117413265)     Exons: 26     NC_000011.10
• Gene summary(Entrez): This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cau
• OMIM: 614848

Protein Summary

• Protein general information: Q9UPV0  
  • Name: Centrosomal protein of 164 kDa (Cep164)
  • Length: 1460  
  • Mass: 164314
  • Tissue specificity: Expressed in several cell lines. {ECO
• Sequence:

  MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPGEWKPCQDITGDIYYF
  NFANGQSMWDHPCDEHYRSLVIQERAKLSTSGAIKKKKKKKEKKDKKDRDPPKSSLALGSSLAPVHVPLGGLAPL
  RGLVDTPPSALRGSQSVSLGSSVESGRQLGELMLPSQGLKTSAYTKGLLGSIYEDKTALSLLGLGEETNEEDEEE
  SDNQSVHSSSEPLRNLHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPTPCKPSSPGADSSLSSAVGKG
  RQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPEDTVDAGEEGSRREEAAKEPKKKASAL
  EEGSSDASQELEISEHMKEPQLSDSIASDPKSFHGLDFGFRSRISEHLLDVDVLSPVLGGACRQAQQPLGIEDKD
  DSQSSQDELQSKQSKGLEERLSPPLPHEERAQSPPRSLATEEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQ
  REQAPSPPAACEKGKEQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEEAVA
  QVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEARMREEESQRLSWLRA
  QVQSSTQADEDQIRAEQEASLQKLREELESQQKAERASLEQKNRQMLEQLKEEIEASEKSEQAALNAAKEKALQQ
  LREQLEGERKEAVATLEKEHSAELERLCSSLEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHV
  AGYEHELSSLLREKRQEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELE
  TVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLLDVQRQVALKSEEATA
  THQQLEEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQAQSQQLQKHFSSLEAEAQKKQHLLREVTVEE
  NNASPHFEPDLHIEDLRKSLGTNQTKEVSSSLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEFLVQQTRSMR
  RRQTALKAAQQHWRHELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLESSL
  WEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHREWWRQQRIDSTPSLTSRKIHGLSHSLRQISSQL
  SSVLSILDSLNPQSPPPLLASMPAQLPPRDPKSTPTPTYYGSLARFSALSSATPTSTQWAWDSGQGPRLPSSVAQ
  TVDDFLLEKWRKYFPSGIPLLSNSPTPLESRLGYMSASEQLRLLQHSHSQVPEAGSTTFQGIIEANRRWLERVKN
  DPRLPLFSSTPKPKATLSLLQLGLDEHNRVKVYRF

• Structural information:
  • Protein Domains: (56..8-)
    (/note="WW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224"-)
  • Interpro: IPR001202  IPR036020  
  • Prosite: PS50020
  • CDD: cd00201
  • STRING: ENSP00000278935
• Other Databases: GeneCards:  CEP164  Malacards:  CEP164

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005814	centriole	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0097539	ciliary transition fiber	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0097539	ciliary transition fiber	IDA	cellular component
GO:0005814	centriole	IDA	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Nephronophthisis	KEGG:H00537
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq