CEP76: Centrosomal Protein 76
A key regulator of centriole duplication and ciliogenesis
Gene Information Card
| Symbol | CEP76 |
|---|---|
| Full Name | centrosomal protein 76 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 79959 ncbi.nlm.nih.gov/gene/79959 |
| Ensembl ID | ENSG00000101665 |
| UniProt ID | Q8TAP6 |
| OMIM ID | 616642 |
| HGNC ID | 25727 |
| Aliases | FLJ12571, HsT1706, C18orf9 |
Description
CEP76 encodes a centrosomal protein that localizes to the centrosome throughout the cell cycle. It is essential for limiting centriole duplication to once per cell cycle by preventing the formation of extra centrioles. CEP76 also plays a role in ciliogenesis by regulating the transition of centrioles to basal bodies. Loss of CEP76 leads to centriole overduplication and impaired primary cilium formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | CEP76 overexpression or mutation may contribute to centrosome amplification and genomic instability | COSMIC; PMID: 23966166 |
| Ciliopathies | Defective ciliogenesis due to CEP76 loss-of-function may underlie ciliary dysfunction | UniProt; PMID: 23966166 |
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 |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK 293 | 9.5 | Embryonic kidney cells |
| K562 | 7.8 | Leukemia cell line |
| A549 | 6.4 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; likely loss-of-function |
| c.124C>T (p.Arg42*) | nonsense | Rare | Premature stop; loss-of-function |
| c.487G>A (p.Gly163Arg) | missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with centriole overduplication.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • centriole (GO:0005814) |
| • protein binding (GO:0005515) | • centrosome cycle (GO:0007098) |
| • cilium assembly (GO:0060271) | • regulation of centriole replication (GO:0046599) |
Pathways
• Centrosome maturation and duplication
• Ciliogenesis
Protein Summary
CEP76 is a 76 kDa centrosomal protein that contains a coiled-coil domain and localizes to the centrosome throughout the cell cycle. It functions as a negative regulator of centriole duplication by preventing the formation of more than two centrioles per cell cycle. CEP76 interacts with other centrosomal proteins such as CPAP and CEP97. It is also required for the assembly of primary cilia, acting at the step where centrioles transition to basal bodies. Loss of CEP76 leads to centriole amplification and defective ciliogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP76 Knockout HEK293 Cell Line | EDJ-KQ12869 | Human | 79959 | Details Get a Quote |
| CEP76 Knockout A-549 Cell Line | EDJ-KQ42039 | Human | 79959 | Details Get a Quote |
| CEP76 Knockout HCT 116 Cell Line | EDJ-KQ42040 | Human | 79959 | Details Get a Quote |
| CEP76 Knockout HeLa Cell Line | EDJ-KQ42041 | Human | 79959 | Details Get a Quote |
