CCDC8
entrez
83987
canonical
uniprot
Q9H0W5
canonical
ensembl
ENSG00000169515
resolver
ensp
ENSP00000303158
resolver
enst
ENST00000307522
resolver
genesymbol
CCDC8
resolver
hgnc
HGNC:25367
resolver
uniprot
G8IFA7
resolver
uniprot
Q8TB26
resolver
uniprot_entry
CCDC8_HUMAN
resolver
uniprot_entry
G8IFA7_HUMAN
resolver
uniprot_sec
Q8TB26
resolver
amino_acid_sequence
MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRRRVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQEKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAPEGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQRAGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQGSEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRFQTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL
uniprot
proteins
disease_involvement
DISEASE: 3M syndrome 3 (3M3) [MIM:614205]: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. {ECO:0000269|PubMed:21737058, ECO:0000269|PubMed:23018678}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695). {ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}.
uniprot
proteins
mass_dalton
59374
uniprot
proteins
mutagenesis
MUTAGEN 503; /note="P->A: Decreased interaction with ANKRA2."; /evidence="ECO:0000269|PubMed:25752541"; MUTAGEN 504; /note="T->A: Decreased interaction with ANKRA2."; /evidence="ECO:0000269|PubMed:25752541
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21737058
uniprot
proteins
pubmed
23018678
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24793695
uniprot
proteins
pubmed
24793696
uniprot
proteins
pubmed
25752541
uniprot
proteins
sequence_length
538
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24793695}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24793695}.
uniprot
proteins