CEP135

Chr 4q12

centrosomal protein 135

Aliases:: FLJ13621
MANE:: ENST00000257287.5

OMIM: 611423 ↗NCBI: 9662 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEP135 · Q66GS9

v62025-08-01

Predicted Aligned Error matrix for CEP135 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.9/ 100

Confident

1,140 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)67%
Low(50–70)13%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive primary microcephaly
0.74
hereditary disease
0.50
Primary microcephaly
0.37
auditory neuropathy
0.33
neurodegenerative disease
0.17
contracture
0.10
early-onset non-syndromic cataract
0.10
Total congenital cataract
0.09
Posterior polar cataract
0.09
Cataract with Y-shaped suture opacities
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Centrosomal protein of 135 kDa

Centrosomal microtubule-binding protein involved in centriole biogenesis (PubMed:27477386). 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. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865)