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.

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 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
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