ID:CE164_HUMAN DESCRIPTION: RecName: Full=Centrosomal protein of 164 kDa; Short=Cep164; FUNCTION: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. SUBUNIT: Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Nucleus. Note=Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1. TISSUE SPECIFICITY: Expressed in several cell lines. PTM: Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation. DISEASE: Note=Defects in CEP164 can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. SIMILARITY: Contains 1 WW domain. SEQUENCE CAUTION: Sequence=AAH00602.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH54015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA83004.2; Type=Erroneous initiation; Sequence=BAA91677.1; Type=Erroneous initiation; Sequence=CAB56023.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UPV0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AB028975 - Homo sapiens KIAA1052 mRNA for KIAA1052 protein. BX648682 - Homo sapiens mRNA; cDNA DKFZp686E1868 (from clone DKFZp686E1868). BC054015 - Homo sapiens centrosomal protein 164kDa, mRNA (cDNA clone IMAGE:6498140), partial cds. AK302991 - Homo sapiens cDNA FLJ54767 complete cds. BC000602 - Homo sapiens centrosomal protein 164kDa, mRNA (cDNA clone IMAGE:3346652), partial cds. AK303067 - Homo sapiens cDNA FLJ61505 complete cds, weakly similar to Trichohyalin. AB384094 - Synthetic construct DNA, clone: pF1KSDA1052, Homo sapiens CEP164 gene for centrosomal protein 164 kDa, complete cds, without stop codon, in Flexi system. BC152748 - Synthetic construct Homo sapiens clone IMAGE:100016000, MGC:184132 centrosomal protein 164kDa (CEP164) mRNA, encodes complete protein. BC156876 - Synthetic construct Homo sapiens clone IMAGE:100062715, MGC:190595 centrosomal protein 164kDa (CEP164) mRNA, encodes complete protein. AK125995 - Homo sapiens cDNA FLJ44007 fis, clone TESTI4023762. AL833532 - Homo sapiens mRNA; cDNA DKFZp686L0637 (from clone DKFZp686L0637). AL137265 - Homo sapiens mRNA; cDNA DKFZp434O2413 (from clone DKFZp434O2413); partial cds. BX647583 - Homo sapiens mRNA; cDNA DKFZp313D2019 (from clone DKFZp313D2019). AL117632 - Homo sapiens mRNA; cDNA DKFZp434E165 (from clone DKFZp434E165); partial cds. AK001412 - Homo sapiens cDNA FLJ10550 fis, clone NT2RP2002154. JD210914 - Sequence 191938 from Patent EP1572962. JD387608 - Sequence 368632 from Patent EP1572962. JD132724 - Sequence 113748 from Patent EP1572962. JD421335 - Sequence 402359 from Patent EP1572962. JD532904 - Sequence 513928 from Patent EP1572962. JD189341 - Sequence 170365 from Patent EP1572962. JD108673 - Sequence 89697 from Patent EP1572962. JD476286 - Sequence 457310 from Patent EP1572962. JD408127 - Sequence 389151 from Patent EP1572962. JD178268 - Sequence 159292 from Patent EP1572962. JD386235 - Sequence 367259 from Patent EP1572962. JD427924 - Sequence 408948 from Patent EP1572962. JD132026 - Sequence 113050 from Patent EP1572962. JD554349 - Sequence 535373 from Patent EP1572962. JD411693 - Sequence 392717 from Patent EP1572962. JD269443 - Sequence 250467 from Patent EP1572962. JD157534 - Sequence 138558 from Patent EP1572962. JD134501 - Sequence 115525 from Patent EP1572962. JD147549 - Sequence 128573 from Patent EP1572962. JD275073 - Sequence 256097 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9UPV0 (Reactome details) participates in the following event(s):
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-5617833 Cilium Assembly R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-380287 Centrosome maturation R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
