National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
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|---|---|
| Protein Name | Coiled-coil domain-containing protein 78 |
| Accession Code | A2IDD5 |
| Gene | CCDC78 |
| Organism | Homo sapiens | Human (Taxonomy: 9606) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 438) |
Description |
Position in the Nuclear Envelope |
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|---|---|---|
| Location | Location ID | Description |
| Perinuclear Region | SL-0198 | The perinuclear region is the cytoplasmic region just around the nucleus. | Membrane Topology |
| Topology | Source | Annotation Type |
| Unknown | UniProt | Sequence Analysis | Assigned Ontology terms |
Description |
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|---|---|
| Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome. {Experimental EvidencePubMed:24075808}. | Assigned Ontology terms |
Description |
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|---|---|
| Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {Experimental EvidencePubMed:22818856}. Note=The disease is caused by variants affecting the gene represented in this entry. | Database Associations |
| OMIM | 614666 614807 |
| DisGeNET | 124093 |
Interactions with other proteins (3 interactors) |
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|---|---|---|---|
Database | Links |
| UNIPROT | A2IDD5 B4DNY4 B4E1U6 Q05BY7 Q05CA0 Q6T2V5 Q6ZR33 Q8IUR3 Q8NAY7 Q96S12 |
| Pfam | PF14739 |
| OMIM | 614666 614807 |
| DisGeNET | 124093 |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory