CCDC78
entrez
124093
canonical
uniprot
A2IDD5
canonical
ensembl
ENSG00000162004
resolver
ensp
ENSP00000293889
resolver
ensp
ENSP00000316851
resolver
ensp
ENSP00000523093
resolver
enst
ENST00000345165
resolver
genesymbol
CCDC78
resolver
genesymbol_syn
C16orf25
resolver
hgnc
HGNC:14153
resolver
uniprot
B4DNY4
resolver
uniprot
B4E1U6
resolver
uniprot
H3BLT8
resolver
uniprot
Q05BY7
resolver
uniprot
Q05CA0
resolver
uniprot
Q6T2V5
resolver
uniprot
Q6ZR33
resolver
uniprot
Q8IUR3
resolver
uniprot
Q8NAY7
resolver
uniprot
Q96S12
resolver
uniprot_entry
CCD78_HUMAN
resolver
uniprot_entry
H3BLT8_HUMAN
resolver
uniprot_sec
B4DNY4
resolver
uniprot_sec
B4E1U6
resolver
uniprot_sec
Q05BY7
resolver
uniprot_sec
Q05CA0
resolver
uniprot_sec
Q6T2V5
resolver
uniprot_sec
Q6ZR33
resolver
uniprot_sec
Q8IUR3
resolver
uniprot_sec
Q8NAY7
resolver
uniprot_sec
Q96S12
resolver
amino_acid_sequence
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
48521
uniprot
proteins
protein_family
CCDC78 family
uniprot
proteins
pubmed
11157797
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
22818856
uniprot
proteins
pubmed
24075808
uniprot
proteins
sequence_length
438
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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.
uniprot
proteins