CEP135 (centrosomal protein 135)

2021-06-01  

Identity

HGNC
LOCATION
4q12
LOCUSID
ALIAS
CEP4,KIAA0635,MCPH8

Other Information

Locus ID:

NCBI: 9662
MIM: 611423
HGNC: 29086
Ensembl: ENSG00000174799

Variants:

dbSNP: 9662
ClinVar: 9662
TCGA: ENSG00000174799
COSMIC: CEP135

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174799ENST00000257287Q66GS9
ENSG00000174799ENST00000422247Q66GS9

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518

References

Pubmed IDYearTitleCitations
235119742013Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly.69
225214162012A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.51
188519622008A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization.26
274773862016The Human Centriolar Protein CEP135 Contains a Two-Stranded Coiled-Coil Domain Critical for Microtubule Binding.6
266579372016A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.5
264121262015A Short CEP135 Splice Isoform Controls Centriole Duplication.4
308112672019CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells.4
250860312014Phosphorylation of Cdc42 effector protein-4 (CEP4) by protein kinase C promotes motility of human breast cells.3
305316822018The Association of CEP135 rs4865047 and NPY2R rs1902491 Single Nucleotide Polymorphisms (SNPs) with Rapid Progression of Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes Mellitus.1

Citation

Dessen P

CEP135 (centrosomal protein 135)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58365/cep135