| Tbio | Centrosomal protein of 135 kDa |
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
Comments
| Disease | Target Count |
|---|---|
| Microcephaly 8, primary, autosomal recessive | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group B ependymoma | 1530 | 9.56742794282029E-9 |
| ulcerative colitis | 2087 | 2.00082838878841E-8 |
| glioblastoma | 5572 | 2.49546058721239E-7 |
| atypical teratoid/rhabdoid tumor | 1095 | 3.21938724084613E-7 |
| psoriasis | 6685 | 1.14335535347243E-5 |
| pilocytic astrocytoma | 3086 | 1.7050929770277E-5 |
| group 3 medulloblastoma | 2254 | 2.09635984570371E-5 |
| tuberculosis and treatment for 6 months | 686 | 3.12831405644453E-5 |
| pediatric high grade glioma | 2712 | 5.79660122004126E-5 |
| nasopharyngeal carcinoma | 1056 | 6.09376132138251E-5 |
| primitive neuroectodermal tumor | 3031 | 0.00228974179132269 |
| osteosarcoma | 7933 | 0.0102469035503163 |
| ovarian cancer | 8492 | 0.0156553162196231 |
| non primary Sjogren syndrome sicca | 840 | 0.0198264148729855 |
| spina bifida | 1064 | 0.0356293316343463 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Microcephaly | 149 | 4.317 | 2.2 |
| Intellectual disability | 573 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Diabetic macular edema | 8 | 3.009 | 1.5 |
| Disease | Target Count |
|---|---|
| Primary autosomal recessive microcephaly 8 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| psoriasis | -2.500 | 0.000 |
| glioblastoma | 1.600 | 0.000 |
| osteosarcoma | -1.545 | 0.010 |
| posterior fossa group B ependymoma | 1.700 | 0.000 |
| group 3 medulloblastoma | 2.300 | 0.000 |
| atypical teratoid/rhabdoid tumor | 1.400 | 0.000 |
| primitive neuroectodermal tumor | 1.300 | 0.002 |
| tuberculosis and treatment for 6 months | 1.400 | 0.000 |
| pediatric high grade glioma | 1.200 | 0.000 |
| pilocytic astrocytoma | 1.100 | 0.000 |
| non primary Sjogren syndrome sicca | -1.200 | 0.020 |
| nasopharyngeal carcinoma | 1.300 | 0.000 |
| spina bifida | -1.749 | 0.036 |
| ulcerative colitis | 1.300 | 0.000 |
| ovarian cancer | 1.200 | 0.016 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG |
| Chicken | OMA EggNOG Inparanoid |
| Anole lizard | OMA Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26412126 | Authors suggest that the decrease in CEP135(mini) from centrosomes promotes centriole assembly. The repression of centriole duplication by a splice isoform of a protein that normally promotes it serves as a novel mechanism to limit centriole duplication. |
| 25086031 | These findings support a model in which PKC-mediated phosphorylation of CEP4 at Ser(18) and Ser(80) causes its dissociation from Cdc42, thereby increasing its affinity for TEM4 and producing Rac activation, filopodium formation, and cell motility |
| 23511974 | Authors propose that CEP135 directly connects the central hub protein, hSAS-6, to the outer microtubules, and suggest that this interaction stabilizes the proper cartwheel structure for further CPAP-mediated centriole elongation. |
| 22521416 | A truncating mutation of CEP135 caused autosomal-recessive primary microcephaly in a Pakistani family. |
| 18851962 | CEP135 acts as a platform protein for C-NAP1 at the centriole. |
MTTAVERKYINIRKRLDQLGYRQTLTVECLPLVEKLFSDLVHTTESLRQSKLSAVKAEKESANFDFVLEP 1 - 70 YKLENARLSRENNELYLELMKLREHSDQHVKELKTSLKKCARETADLKFLNNQYAHKLKLLEKESKAKNE 71 - 140 RIQQLQEKNLHAVVQTPGGKKRSIAFRRQRMQIDEPVPPSEVSSYPVPQPDDPYIADLLQVADNRIQELQ 141 - 210 QEVHQLQEKLAMMESGVRDYSKQIELREREIERLSVALDGGRSPDVLSLESRNKTNEKLIAHLNIQVDFL 211 - 280 QQANKDLEKRIRELMETKETVTSEVVNLSNKNEKLCQELTEIDQLAQQLERHKEEVLETADKELGEAKKE 281 - 350 IKRKLSEMQDLEETMAKLQLELNLCQKEKERLSDELLVKSDLETVVHQLEQEKQRLSKKVESFAVTERQL 351 - 420 TLEVERMRLEHGIKRRDRSPSRLDTFLKGIEEERDYYKKELERLQHIIQRRSCSTSYSAREKSSIFRTPE 421 - 490 KGDYNSEIHQITRERDELQRMLERFEKYMEDIQSNVKLLTAERDKLSVLYNEAQEELSALRKESTQTTAP 491 - 560 HNIVSLMEKEKELALSDLRRIMAEKEALREKLEHIEEVSLFGKSELEKTIEHLTCVNHQLESEKYELKSK 561 - 630 VLIMKETIESLENKLKVQAQKFSHVAGDSSHQKTEVNSLRIVNEQLQRSVDDYQHRLSIKRGELESAQAQ 631 - 700 IKILEEKIDELNLKMTSQDEEAHVMKKTIGVIDKEKDFLQETVDEKTEKIANLQENLANKEKAVAQMKIM 701 - 770 ISECESSVNQLKETLVNRDREINSLRRQLDAAHKELDEVGRSREIAFKENRRLQDDLATMARENQEISLE 771 - 840 LEAAVQEKEEMKSRVHKYITEVSRWESLMAAKEKENQDLLDRFQMLHNRAEDWEVKAHQAEGESSSVRLE 841 - 910 LLSIDTERRHLRERVELLEKEIQEHINAHHAYESQISSMAKAMSRLEEELRHQEDEKATVLNDLSSLREL 911 - 980 CIKLDSGKDIMTQQLNSKNLEFERVVVELENVKSESDLLKKQLSNERHTVKNLESLLATNRDKEFHSHLT 981 - 1050 SHEKDTEIQLLKEKLTLSESKLTSQSRENTMLRAKVAQLQTDYDALKRQISTERYERERAIQEMRRHGLA 1051 - 1120 TPPLSSTLRSPSHSPEHRNV 1121 - 1140 //
| PMID | Year | Title |
|---|---|---|
| 27107012 | 2016 | Pooled-matrix protein interaction screens using Barcode Fusion Genetics. |
| 26675238 | 2016 | WDR8 is a centriolar satellite and centriole-associated protein that promotes ciliary vesicle docking during ciliogenesis. |
| 26638075 | 2015 | A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. |
| 26545777 | 2015 | The conserved Wdr8-hMsd1/SSX2IP complex localises to the centrosome and ensures proper spindle length and orientation. |
| 26496610 | 2015 | A human interactome in three quantitative dimensions organized by stoichiometries and abundances. |
| 26412126 | 2015 | A Short CEP135 Splice Isoform Controls Centriole Duplication. |
| 25086031 | 2014 | Phosphorylation of Cdc42 effector protein-4 (CEP4) by protein kinase C promotes motility of human breast cells. |
| 23511974 | 2013 | Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly. |
| 23186163 | 2013 | Toward a comprehensive characterization of a human cancer cell phosphoproteome. |
| 22521416 | 2012 | A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. |
| More... |
