CEP83
entrez
51134
canonical
uniprot
Q9Y592
canonical
ensembl
ENSG00000173588
resolver
ensp
ENSP00000344655
resolver
ensp
ENSP00000380911
resolver
ensp
ENSP00000448913
resolver
ensp
ENSP00000531250
resolver
ensp
ENSP00000660060
resolver
ensp
ENSP00000685752
resolver
ensp
ENSP00000685754
resolver
enst
ENST00000547575
resolver
genesymbol
CCDC41
resolver
genesymbol
CEP83
resolver
genesymbol_syn
CCDC41
resolver
hgnc
HGNC:17966
resolver
uniprot
A4FVB1
resolver
uniprot
F8VYN8
resolver
uniprot
Q08AP1
resolver
uniprot
Q3B787
resolver
uniprot_entry
CEP83_HUMAN
resolver
uniprot_entry
F8VYN8_HUMAN
resolver
uniprot_entry
Q3B787_HUMAN
resolver
uniprot_sec
A4FVB1
resolver
uniprot_sec
Q08AP1
resolver
amino_acid_sequence
MVVSTFTDMDTFPNNFPPGGDSGLTGSQSEFQKMLIDERLRCEHHKANYQTLKAEHTRLQNEHVKLQNELKHLFNEKQTQQEKLQLLLEELRGELVEKTKDLEEMKLQILTPQKLELLRAQIQQELETPMRERFRNLDEEVEKYRAVYNKLRYEHTFLKSEFEHQKEEYARILDEGKIKYESEIARLEEDKEELRNQLLNVDLTKDSKRVEQLAREKVYLCQKLKGLEAEVAELKAEKENSEAQVENAQRIQVRQLAEMQATVRSLEAEKQSANLRAERLEKELQSSSEQNTFLINKLHKAEREINTLSSKVKELKHSNKLEITDIKLETARAKSELERERNKIQSELDGLQSDNEILKAAVEHHKVLLVEKDRELIRKVQAAKEEGYQKLVVLQDEKLELENRLADLEKMKVEHDVWRQSEKDQYEEKLRASQMAEEITRKELQSVRLKLQQQIVTIENAEKEKNENSDLKQQISSLQIQVTSLAQSENDLLNSNQMLKEMVERLKQECRNFRSQAEKAQLEAEKTLEEKQIQWLEEKHKLHERITDREEKYNQAKEKLQRAAIAQKKRKSLHENKLKRLQEKVEVLEAKKEELETENQVLNRQNVPFEDYTRLQKRLKDIQRRHNEFRSLILVPNMPPTASINPVSFQSSAMVPSMELPFPPHMQEEQHQRELSLLRKRLEELETTQRKQLEELGSSGE
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis 18 (NPHP18) [MIM:615862]: An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. {ECO:0000269|PubMed:24882706}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly. {ECO:0000269|PubMed:23348840, ECO:0000269|PubMed:23530209}.
uniprot
proteins
mass_dalton
82940
uniprot
proteins
protein_family
CEP83 family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
23348840
uniprot
proteins
pubmed
23530209
uniprot
proteins
pubmed
24882706
uniprot
proteins
sequence_length
701
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23348840, ECO:0000269|PubMed:23530209}. Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis.
uniprot
proteins