CEP350: Centrosomal Protein 350
A key component of the centrosome involved in microtubule organization and cell cycle progression.
Gene Information Card
| Symbol | CEP350 |
|---|---|
| Full Name | Centrosomal Protein 350 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 9857 ncbi.nlm.nih.gov/gene/9857 |
| Ensembl ID | ENSG00000135842 |
| UniProt ID | Q5VXJ9 |
| OMIM ID | 617870 |
| HGNC ID | 2427 |
| Aliases | CAP350, KIAA0478, MCPH13 |
Description
CEP350 (Centrosomal Protein 350) encodes a large coiled-coil protein that localizes to the centrosome. It is essential for microtubule anchoring, centrosome integrity, and ciliogenesis. Mutations in CEP350 are associated with primary microcephaly and ciliopathy phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 13 (MCPH13) | Loss-of-function mutations impair centrosome function and neurogenesis | OMIM #617870; ClinVar |
| Joubert syndrome (ciliopathy) | Disruption of ciliary assembly due to defective CEP350 | ClinVar; literature |
| Cancer (various) | Altered expression and rare mutations may contribute to genomic instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Brain (cortex) | 7.1 | Low |
| Kidney | 6.8 | Low |
| Liver | 4.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.5 | Cervical cancer cell line |
| HEK 293 | 8.1 | Embryonic kidney cells |
| U2OS | 7.8 | Osteosarcoma cell line |
| HepG2 | 5.2 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.5678_5681del (p.Glu1893Valfs*5) | Frameshift | Rare | Loss of function; ciliopathy |
| c.7890G>A (p.Trp2630*) | Nonsense | Rare | Loss of function; microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; cause primary microcephaly and ciliopathies.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule binding (GO:0008017) |
| • microtubule cytoskeleton organization (GO:0000226) | • cilium assembly (GO:0060271) |
| • centriole (GO:0005814) |
Pathways
• Centrosome maturation and maintenance
• Ciliogenesis
• Microtubule anchoring
Protein Summary
CEP350 is a 350 kDa centrosomal protein that interacts with microtubule minus ends and the centrosome component CEP170. It is required for proper microtubule organization, centrosome cohesion, and primary cilium formation. The protein contains multiple coiled-coil domains and localizes to the centrosome throughout the cell cycle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP350 Knockout HEK293 Cell Line | EDJ-KQ6784 | Human | 9857 | Details Get a Quote |
| CEP350 Knockout HCT 116 Cell Line | EDJ-KQ29900 | Human | 9857 | Details Get a Quote |
| CEP350 Knockout A-549 Cell Line | EDJ-KQ31253 | Human | 9857 | Details Get a Quote |
| CEP350 Knockout HeLa Cell Line | EDJ-KQ31254 | Human | 9857 | Details Get a Quote |
| CEP350 Knockout HEK293T Cell Line | EDC90312 | Human | 9857 | Details Get a Quote |
| CEP350 Knockout K-562 Cell Line | EDC90747 | Human | 9857 | Details Get a Quote |
