CEP135: Centrosomal Protein 135
Key regulator of centrosome biogenesis and microtubule organization
Gene Information Card
| Symbol | CEP135 |
|---|---|
| Full Name | Centrosomal Protein 135 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 9662 ncbi.nlm.nih.gov/gene/9662 |
| Ensembl ID | ENSG00000174799 |
| UniProt ID | Q66GS9 |
| OMIM ID | 611423 |
| HGNC ID | 29086 |
| Aliases | CEP4, MCPH8, centrosomal protein 135kDa |
Description
CEP135 encodes a centrosomal protein that localizes to the centriole and is essential for centrosome duplication and microtubule organization. It interacts with other centrosomal components to maintain centrosome integrity and is critical for proper cell division. Mutations in CEP135 cause autosomal recessive primary microcephaly type 8 (MCPH8).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive primary microcephaly 8 (MCPH8) | Loss-of-function mutations impair centrosome duplication, leading to reduced neuronal progenitor cell proliferation | OMIM #614852; PMID: 21820000 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | Disruption of centrosome function affects brain development and other tissues | ClinVar; PMID: 21820000 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Bone marrow | 6.8 | Medium |
| Spleen | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 10.1 | Moderate expression in cervical cancer cells |
| K562 | 8.4 | Moderate expression in leukemia cells |
| HepG2 | 6.3 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.973C>T (p.Arg325*) | Nonsense | Rare | Loss of function; truncates protein, abolishing centrosomal localization |
| c.1170_1171del (p.Glu391Argfs*3) | Frameshift | Rare | Loss of function; premature stop codon |
| c.1475G>A (p.Arg492His) | Missense | Rare | Likely loss of function; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or unstable protein, impairing centrosome duplication and causing microcephaly.
Gain of Function (GOF)
No gain-of-function mutations reported for CEP135.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome | • Centriole |
| • Microtubule organizing center | • Protein binding |
| • Centrosome duplication | • Cell division |
| • Microtubule cytoskeleton organization |
Pathways
• Centrosome maturation and duplication
• Cell cycle
• mitotic
• Microcephaly pathway
Protein Summary
CEP135 is a 135 kDa centrosomal protein that localizes to the centriole and is essential for centriole duplication and microtubule anchoring. It interacts with CEP152, CEP63, and other centrosomal proteins to form a complex required for centrosome biogenesis. Loss of CEP135 function leads to reduced centrosome number and impaired neurogenesis, resulting in primary microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP135 Knockout HEK293 Cell Line | EDJ-KQ50891 | Human | 9662 | Details Get a Quote |
| CEP135 Knockout HeLa Cell Line | EDJ-KQ55221 | Human | 9662 | Details Get a Quote |
| CEP135 Knockout A-549 Cell Line | EDJ-KQ63702 | Human | 9662 | Details Get a Quote |
| CEP135 Knockout HCT 116 Cell Line | EDJ-KQ72163 | Human | 9662 | Details Get a Quote |
