HOME
BACK
The Q9H0W5 Proteins with novel repeats
Uniprot ID:Q9H0W5
Gene name: CCDC8
Protein Family:
Protein name: Coiled-coil domain-containing protein 8
Length : 538
Sequnce
>Q9H0W5 539 MLQIGEDVDYLLIPREVRLAGGVWRVISKPATKEAEFRERLTQFLEEEGRTLEDVARIMEKSTPHPPQPPKKPKEPRVRRRVQQMVTPPPRLVVGTYDSSNASDSEFSDFETSRDKSRQGPRRGKKVRKMPVSYLGSKFLGSDLESEDDEELVEAFLRRQEKQPSAPPARRRVNLPVPMFEDNLGPQLSKADRWREYVSQVSWGKLKRRVKGWAPRAGPGVGEARLASTAVESAGVSSAPEGTSPGDRLGNAGDVCVPQASPRRWRPKINWASFRRRRKEQTAPTGQGADIEADQGGEAADSQREEAIADQREGAAGNQRAGAPADQGAEAADNQREEAADNQRAGAPAEEGAEAADNQREEAADNQRAEAPADQRSQGTDNHREEAADNQRAEAPADQGSEVTDNQREEAVHDQRERAPAVQGADNQRAQARAGQRAEAAHNQRAGAPGIQEAEVSAAQGTTGTAPGARARKQVKTVRFQTPGRFSWFCKRRRAFWHTPRLPTLPKRVPRAGEARNLRVLRAEARAEAEQGEQEDQL
T-REKS Repeated Sequence regions
Length: 24 residues : 3 times from 360 to 431 :0.7777777777777778 region Length:72 REEAADNQRAEAPADQRSQGTDNH REEAADNQRAEAPADQGSEVTDNQ REEAVHDQRERAPAVQGADNQRAQ
XSTREAM Repeated Sequence regions
Repeat Length:24; Regions:311-402 QREGAAGNQRAGAPADQGAEAADN QREEAADNQRAGAPAEEGAEAADN QREEAADNQRAEAPADQRSQGTDN HREEAADNQRAEAPADQGSE
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)"
Motifs
MOTIF 500 506 PxLPxI/L motif. mediates interaction with ANKRA2
Mutation
503 503 P->A: Decreased interaction with ANKRA2 504 504 T->A: Decreased interaction with ANKRA2
Disease
"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 Note=The disease is caused by mutations affecting the gene represented in this entry"