ID  A2IDD5;
PN  Coiled-coil domain-containing protein 78;
GN  CCDC78;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, perinuclear region. Cell membrane, sarcolemma. Sarcoplasmic reticulum. Note=Localizes to centrioles and deuterosome. Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm.
DR  UNIPROT: A2IDD5;
DR  UNIPROT: B4DNY4;
DR  UNIPROT: B4E1U6;
DR  UNIPROT: Q05BY7;
DR  UNIPROT: Q05CA0;
DR  UNIPROT: Q6T2V5;
DR  UNIPROT: Q6ZR33;
DR  UNIPROT: Q8IUR3;
DR  UNIPROT: Q8NAY7;
DR  UNIPROT: Q96S12;
DR  Pfam: PF14739;
DR  OMIM: 614666;
DR  OMIM: 614807;
DR  DisGeNET: 124093;
DE  Function: 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. {ECO:0000269|PubMed:24075808}.
DE  Disease: 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. {ECO:0000269|PubMed:22818856}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: Q8D194; IntAct: EBI-2874016; Score: 0.00
DE  Interaction: Q0VD86; IntAct: EBI-24727262; Score: 0.56
DE  Interaction: Q9NQ75; IntAct: EBI-21371981; Score: 0.00
GO  GO:0005814;
GO  GO:0005737;
GO  GO:0098536;
GO  GO:0048471;
GO  GO:0042383;
GO  GO:0016529;
GO  GO:0030030;
GO  GO:0098535;
GO  GO:0003009;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
SQ  AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
SQ  LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
SQ  DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
SQ  GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
SQ  SWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS
//