CCDC61: Coiled-Coil Domain Containing 61
A centrosomal protein involved in microtubule organization and ciliogenesis, with emerging links to cancer and ciliopathies.
Gene Information Card
| Symbol | CCDC61 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 61 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 283761 ncbi.nlm.nih.gov/gene/283761 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q9Y6R4 |
| OMIM ID | 619492 |
| HGNC ID | 26706 |
| Aliases | FLJ25333, MGC138290 |
Description
CCDC61 encodes a coiled-coil domain-containing protein that localizes to centrosomes and is involved in microtubule organization and ciliogenesis. It interacts with the centrosomal protein CEP120 and is required for primary cilium formation. The gene is expressed in multiple tissues and has been implicated in cancer cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | CCDC61 overexpression promotes cell proliferation and migration; potential oncogene | COSMIC, literature |
| Ciliopathies | Disruption of ciliogenesis due to CCDC61 dysfunction may contribute to ciliary defects | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| MCF7 | 5.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.452G>A (p.Arg151His) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • microtubule organizing center |
| • ciliary basal body | • protein binding |
| • cell cycle | • ciliogenesis |
Pathways
• Centrosome maturation
• Cilium assembly
Protein Summary
CCDC61 is a 366-amino acid protein containing coiled-coil domains. It localizes to the centrosome and basal body, interacting with CEP120 to promote microtubule nucleation and cilia formation. Its expression is elevated in several cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC61 Knockout HEK293 Cell Line | EDJ-KQ12758 | Human | 729440 | Details Get a Quote |
| CCDC61 Knockout A-549 Cell Line | EDJ-KQ41877 | Human | 729440 | Details Get a Quote |
| CCDC61 Knockout HCT 116 Cell Line | EDJ-KQ41878 | Human | 729440 | Details Get a Quote |
| CCDC61 Knockout HeLa Cell Line | EDJ-KQ41879 | Human | 729440 | Details Get a Quote |
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