CEP44: Centrosomal Protein 44
A centrosomal protein involved in microtubule organization and cell cycle regulation
Gene Information Card
| Symbol | CEP44 |
|---|---|
| Full Name | Centrosomal Protein 44 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q34.1 |
| NCBI Gene ID | 26097 ncbi.nlm.nih.gov/gene/26097 |
| Ensembl ID | ENSG00000164104 |
| UniProt ID | Q9C0A1 |
| OMIM ID | 614729 |
| HGNC ID | 29107 |
| Aliases | FLJ12529, MGC138290 |
Description
CEP44 encodes a centrosomal protein that localizes to the centrosome and is involved in microtubule organization and cell cycle progression. It plays a role in maintaining centrosome integrity and spindle pole formation during mitosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | CEP44 overexpression may contribute to centrosome amplification and genomic instability | COSMIC; PMID: 23568457 |
| Breast cancer | Altered CEP44 expression linked to centrosome abnormalities | COSMIC; PMID: 23568457 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cells |
| MCF7 | 8.7 | Breast cancer cell line |
| A549 | 7.4 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule organizing center (GO:0005815) |
| • cell cycle (GO:0007049) | • cell division (GO:0051301) |
| • microtubule cytoskeleton organization (GO:0000226) |
Pathways
• Centrosome maturation
• Cell cycle
• mitotic
Protein Summary
CEP44 is a 44 kDa centrosomal protein that localizes to the centrosome throughout the cell cycle. It is involved in microtubule nucleation and organization, and is essential for proper spindle formation and chromosome segregation. Overexpression has been observed in some cancers, suggesting a potential role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP44 Knockout HEK293 Cell Line | EDJ-KQ8832 | Human | 80817 | Details Get a Quote |
| CEP44 Knockout A-549 Cell Line | EDJ-KQ36398 | Human | 80817 | Details Get a Quote |
| CEP44 Knockout HCT 116 Cell Line | EDJ-KQ36400 | Human | 80817 | Details Get a Quote |
| CEP44 Knockout HeLa Cell Line | EDJ-KQ36401 | Human | 80817 | Details Get a Quote |
