Property Summary

NCBI Gene PubMed Count 29
Grant Count 4
R01 Count 1
Funding $199,625
PubMed Score 10.18
PubTator Score 11.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
ependymoma 1.300 0.004
oligodendroglioma 1.100 0.004
osteosarcoma 1.608 0.003
primary pancreatic ductal adenocarcinoma -1.058 0.010
group 3 medulloblastoma 1.200 0.002
Pick disease 1.200 0.000
ulcerative colitis 1.100 0.000
ovarian cancer 2.400 0.000
pituitary cancer -1.300 0.001

 MGI Term (1)

Gene RIF (10)

PMID Text
25340510 This study reveals a novel role for CEP164 in the pathogenesis of nephronophthisis, in which mutations cause ciliary defects coupled with DNA damage induced replicative stress, cell death, and epithelial-to-mesenchymal transition
25297623 Evidence is provided that TTBK2 effectively phosphorylate Cep164 and Cep97 and inhibits the interaction between Cep164 and its binding partner Dishevelled-3 (an important regulator of ciliogenesis) in a kinase activity-dependent manner.
24982133 data suggest that TTBK2 also acts upstream of Cep164, contributing to the assembly of distal appendages
23253480 Cep164 is targeted to the apical domain of the mother centriole to provide the molecular link between the mother centriole and the membrane biogenesis machinery that initiates cilia formation.
23150559 findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins
22863007 Study identifies by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing Nephronophthisis-related ciliopathies.
22004425 Single nucleotide polymorphisms of CCND2, RAD23B, GRP78, CEP164, MDM2, and ALDH2 genes were significantly associated with development and recurrence of hepatocellular carcinoma in Japanese patients with hepatitis C virus.
19197159 Results show that Cep164 knockdown compromises the cell survival upon UV damage, and that UV irradiation significantly enhances the interaction between Cep164 and XPA.
18283122 Cep164 is a key player in the DNA damage-activated signaling cascade.
17954613 These data implicate distal appendages in primary cilia formation and identify Cep164 as an excellent marker for these structures.

AA Sequence

MAGRPLRIGDQLVLEEDYDETYIPSEQEILEFAREIGIDPIKEPELMWLAREGIVAPLPGEWKPCQDITG      1 - 70
DIYYFNFANGQSMWDHPCDEHYRSLVIQERAKLSTSGAIKKKKKKKEKKDKKDRDPPKSSLALGSSLAPV     71 - 140
HVPLGGLAPLRGLVDTPPSALRGSQSVSLGSSVESGRQLGELMLPSQGLKTSAYTKGLLGSIYEDKTALS    141 - 210
LLGLGEETNEEDEEESDNQSVHSSSEPLRNLHLDIGALGGDFEYEESLRTSQPEEKKDVSLDSDAAGPPT    211 - 280
PCKPSSPGADSSLSSAVGKGRQGSGARPGLPEKEENEKSEPKICRNLVTPKADPTGSEPAKASEKEAPED    281 - 350
TVDAGEEGSRREEAAKEPKKKASALEEGSSDASQELEISEHMKEPQLSDSIASDPKSFHGLDFGFRSRIS    351 - 420
EHLLDVDVLSPVLGGACRQAQQPLGIEDKDDSQSSQDELQSKQSKGLEERLSPPLPHEERAQSPPRSLAT    421 - 490
EEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGKEQHSQAEELGPGQEEAEDPE    491 - 560
EKVAVSPTPPVSPEVRSTEPVAPPEQLSEAALKAMEEAVAQVLEQDQRHLLESKQEKMQQLREKLCQEEE    561 - 630
EEILRLHQQKEQSLSSLRERLQKAIEEEEARMREEESQRLSWLRAQVQSSTQADEDQIRAEQEASLQKLR    631 - 700
EELESQQKAERASLEQKNRQMLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLEGERKEAVATLEKEH    701 - 770
SAELERLCSSLEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKR    771 - 840
QEVEGEHERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELETVRQEQHKRL    841 - 910
EDLRRRHREQERKLQDLELDLETRAKDVKARLALLEVQEETARREKQQLLDVQRQVALKSEEATATHQQL    911 - 980
EEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQAQSQQLQKHFSSLEAEAQKKQHLLREVTVEE    981 - 1050
NNASPHFEPDLHIEDLRKSLGTNQTKEVSSSLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEFLVQQ   1051 - 1120
TRSMRRRQTALKAAQQHWRHELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKE   1121 - 1190
EKLNQLESSLWEEASDEGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHREWWRQQRIDSTPSLTSRK   1191 - 1260
IHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLASMPAQLPPRDPKSTPTPTYYGSLARFSALSSATPT   1261 - 1330
STQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLESRLGYMSASEQLRLLQHSHSQ   1331 - 1400
VPEAGSTTFQGIIEANRRWLERVKNDPRLPLFSSTPKPKATLSLLQLGLDEHNRVKVYRF             1401 - 1460
//

Text Mined References (32)

PMID Year Title
26337392 2015 MDM1 is a microtubule-binding protein that negatively regulates centriole duplication.
25340510 2014 Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.
25297623 2014 Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.
24982133 2014 Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.
24421332 2014 The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.
23530209 2013 CCDC41 is required for ciliary vesicle docking to the mother centriole.
23348840 2013 Centriole distal appendages promote membrane docking, leading to cilia initiation.
23253480 2012 Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23150559 2012 ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
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