CEP55: Centrosomal Protein 55 – Key Regulator of Cytokinesis and Cancer Biomarker
Comprehensive genomic and proteomic overview of CEP55, a centrosomal protein involved in cell cycle regulation, linked to multiple cancers and developmental disorders.
Gene Information Card
| Symbol | CEP55 |
|---|---|
| Full Name | Centrosomal Protein 55 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 55165 ncbi.nlm.nih.gov/gene/55165 |
| Ensembl ID | ENSG00000138180 |
| UniProt ID | Q53EZ4 |
| OMIM ID | 610000 |
| HGNC ID | 23751 |
| Aliases | C10orf3, FLJ10540, MGC131970, URCC6 |
Description
CEP55 (Centrosomal Protein 55) encodes a coiled-coil domain-containing protein that localizes to the centrosome and midbody during cytokinesis. It is essential for the final stages of cell division, specifically abscission, by recruiting the ESCRT machinery. Overexpression of CEP55 is frequently observed in various cancers and is associated with poor prognosis. The gene is located on chromosome 10q23.33 and spans approximately 25 kb.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types, e.g., breast, lung, colorectal, hepatocellular carcinoma) | Overexpression leads to cytokinesis defects, aneuploidy, and enhanced cell proliferation | PubMed, COSMIC, TCGA |
| Glioma | CEP55 upregulation promotes tumor growth and invasion via PI3K/AKT pathway | PubMed, COSMIC |
| Developmental disorders (rare) | Loss-of-function variants may impair neurodevelopment; limited evidence | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 32.1 | High |
| Lymph node | 28.5 | High |
| Brain | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.5 | Cervical cancer cell line; high expression |
| MCF7 | 45.3 | Breast cancer cell line; high expression |
| A549 | 38.7 | Lung cancer cell line; high expression |
| HEK293 | 12.1 | Embryonic kidney; moderate expression |
| K562 | 8.4 | Leukemia cell line; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; uncertain significance |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Rare variant; functional impact unknown |
| c.1042G>A (p.Glu348Lys) | Missense | <0.01% | Reported in COSMIC; somatic in cancer |
| Amplification (gene copy number gain) | Copy number variation | ~5-10% in breast cancer | Overexpression; oncogenic effect |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or start-loss variants may impair cytokinesis, but evidence is limited to a few case reports.
Gain of Function (GOF)
Gene amplification and overexpression are common in cancers, leading to enhanced abscission and proliferation.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with ESCRT binding, but data are insufficient.
View complete mutation data:
Gene Ontology (GO)
Pathways
• ESCRT-mediated abscission (Reactome: R-HSA-2467813)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Cytokinesis (Reactome: R-HSA-2467813)
Protein Summary
CEP55 is a 55 kDa centrosomal protein containing a coiled-coil domain. It localizes to the centrosome during interphase and relocates to the midbody during cytokinesis, where it recruits the ESCRT-I complex (TSG101, ALIX) to facilitate abscission. CEP55 also interacts with PLK1 and CDK1 to regulate its phosphorylation and localization. Overexpression in cancer promotes chromosomal instability and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP55 Knockout HEK293 Cell Line | EDJ-KQ12866 | Human | 55165 | Details Get a Quote |
| CEP55 Knockout HCT 116 Cell Line | EDJ-KQ42035 | Human | 55165 | Details Get a Quote |
| CEP55 Knockout HeLa Cell Line | EDJ-KQ40787 | Human | 55165 | Details Get a Quote |
| CEP55 Knockout A-549 Cell Line | EDJ-KQ65041 | Human | 55165 | Details Get a Quote |