ID:CP135_HUMAN DESCRIPTION: RecName: Full=Centrosomal protein of 135 kDa; Short=Cep135; AltName: Full=Centrosomal protein 4; FUNCTION: Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. SUBUNIT: Interacts with DCTN2 (By similarity). Interacts with CEP250. INTERACTION: Q9P2S5:WRAP73; NbExp=2; IntAct=EBI-1046993, EBI-1054904; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Note=During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles. DISEASE: Defects in CEP135 are the cause of microcephaly, primary, type 8 (MCPH8) [MIM:614673]. MCPH8 is a disease defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. SIMILARITY: Belongs to the CEP135/TSGA10 family. SEQUENCE CAUTION: Sequence=AAH12003.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA31610.2; Type=Miscellaneous discrepancy; Note=Intron retention;
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 Q66GS9
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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.
BC136535 - Homo sapiens centrosomal protein 135kDa, mRNA (cDNA clone MGC:168148 IMAGE:9020525), complete cds. BC136536 - Homo sapiens centrosomal protein 135kDa, mRNA (cDNA clone MGC:168149 IMAGE:9020526), complete cds. KJ892828 - Synthetic construct Homo sapiens clone ccsbBroadEn_02222 CEP135 gene, encodes complete protein. AB014535 - Homo sapiens KIAA0635 mRNA for KIAA0635 protein, partial cds. AK023683 - Homo sapiens cDNA FLJ13621 fis, clone PLACE1010954. JD468988 - Sequence 450012 from Patent EP1572962. JD197376 - Sequence 178400 from Patent EP1572962. JD354466 - Sequence 335490 from Patent EP1572962. JD538186 - Sequence 519210 from Patent EP1572962. JD462795 - Sequence 443819 from Patent EP1572962. AK309554 - Homo sapiens cDNA, FLJ99595. BC012003 - Homo sapiens centrosomal protein 135kDa, mRNA (cDNA clone IMAGE:4509740), partial cds. JD369854 - Sequence 350878 from Patent EP1572962. JD361536 - Sequence 342560 from Patent EP1572962. BC070499 - Homo sapiens cDNA clone IMAGE:6199415, partial cds. JD314234 - Sequence 295258 from Patent EP1572962. JD284530 - Sequence 265554 from Patent EP1572962. JD234903 - Sequence 215927 from Patent EP1572962. JD313122 - Sequence 294146 from Patent EP1572962. JD314445 - Sequence 295469 from Patent EP1572962. JD046445 - Sequence 27469 from Patent EP1572962. JD345937 - Sequence 326961 from Patent EP1572962. JD226035 - Sequence 207059 from Patent EP1572962. JD089079 - Sequence 70103 from Patent EP1572962. JD544479 - Sequence 525503 from Patent EP1572962. JD185868 - Sequence 166892 from Patent EP1572962. JD185869 - Sequence 166893 from Patent EP1572962. JD101953 - Sequence 82977 from Patent EP1572962. JD481407 - Sequence 462431 from Patent EP1572962. JD076239 - Sequence 57263 from Patent EP1572962. JD564343 - Sequence 545367 from Patent EP1572962. JD558273 - Sequence 539297 from Patent EP1572962. JD105392 - Sequence 86416 from Patent EP1572962. JD421010 - Sequence 402034 from Patent EP1572962. JD211360 - Sequence 192384 from Patent EP1572962. JD408307 - Sequence 389331 from Patent EP1572962. JD482995 - Sequence 464019 from Patent EP1572962. JD238291 - Sequence 219315 from Patent EP1572962. JD243157 - Sequence 224181 from Patent EP1572962. JD430346 - Sequence 411370 from Patent EP1572962. JD557469 - Sequence 538493 from Patent EP1572962. JD529475 - Sequence 510499 from Patent EP1572962. JD169772 - Sequence 150796 from Patent EP1572962. JD306413 - Sequence 287437 from Patent EP1572962. JD055277 - Sequence 36301 from Patent EP1572962. JD534858 - Sequence 515882 from Patent EP1572962. JD517949 - Sequence 498973 from Patent EP1572962. JD219996 - Sequence 201020 from Patent EP1572962. JD318851 - Sequence 299875 from Patent EP1572962. JD046754 - Sequence 27778 from Patent EP1572962. JD257578 - Sequence 238602 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q66GS9 (Reactome details) participates in the following event(s):
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-5626220 C2CD3 binds the mother 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-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A 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-5620912 Anchoring of the basal body to the plasma membrane 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-5617833 Cilium Assembly R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
