CEP164 (original) (raw)

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Protein-coding gene in the species Homo sapiens

CEP164
Identifiers
Aliases CEP164, NPHP15, centrosomal protein 164
External IDs OMIM: 614848; MGI: 2384878; HomoloGene: 51110; GeneCards: CEP164; OMA:CEP164 - orthologs
Gene location (Human)Chromosome 11 (human)Chr.Chromosome 11 (human)[1]Chromosome 11 (human)Genomic location for CEP164Genomic location for CEP164Band11q23.3Start117,314,557 bp[1]End117,413,266 bp[1]
Gene location (Mouse)Chromosome 9 (mouse)Chr.Chromosome 9 (mouse)[2]Chromosome 9 (mouse)Genomic location for CEP164Genomic location for CEP164Band9|9 A5.2Start45,678,244 bp[2]End45,739,989 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inspermtendon of biceps brachiisural nervenippleright uterine tubebronchial epithelial cellvisceral pleuraleft testisparietal pleuraright testisTop expressed inneural layer of retinasecondary oocyteRostral migratory streaminternal carotid arteryzygotespermatidexternal carotid arteryureterspermatocyteprimary oocyteMore reference expression dataBioGPSn/a
Gene ontologyMolecular function protein binding Cellular component ciliary transition fiber cytoplasm centriole cytosol centrosome cytoskeleton nucleus nucleoplasm extracellular space nuclear speck intracellular membrane-bounded organelle Biological process cell division cell cycle cell projection organization G2/M transition of mitotic cell cycle DNA repair cellular response to DNA damage stimulus cilium assembly ciliary basal body-plasma membrane docking regulation of G2/M transition of mitotic cell cycle Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez22897214552EnsemblENSG00000110274ENSMUSG00000043987UniProtQ9UPV0Q5DU05RefSeq (mRNA)NM_001271933NM_014956NM_001081373RefSeq (protein)NP_001258862NP_055771n/aLocation (UCSC)Chr 11: 117.31 – 117.41 MbChr 9: 45.68 – 45.74 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Centrosomal protein of 164 kDa, also known as CEP164, is a protein that in humans is encoded by the CEP164 gene.[5][6]Its function appears two be twofold: CEP164 is required for primary cilium formation.[7] Furthermore, it is an important component in the response to DNA damage by UV light.[8][9]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000110274Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043987Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: centrosomal protein 164kDa".
  6. ^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
  7. ^ Graser, S.; Stierhof, Y. -D.; Lavoie, S. B.; Gassner, O. S.; Lamla, S.; Le Clech, M.; Nigg, E. A. (2007). "Cep164, a novel centriole appendage protein required for primary cilium formation". The Journal of Cell Biology. 179 (2): 321–30. doi:10.1083/jcb.200707181. PMC 2064767. PMID 17954613.
  8. ^ Sivasubramaniam, S.; Sun, X.; Pan, Y. -R.; Wang, S.; Lee, E. Y. -H. P. (2008). "Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1". Genes & Development. 22 (5): 587–600. doi:10.1101/gad.1627708. PMC 2259029. PMID 18283122.
  9. ^ Pan, YR; Lee, EY (2009). "UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity". Cell Cycle. 8 (4): 655–64. doi:10.4161/cc.8.4.7844. PMID 19197159.