Sequence Detail

ID/Version

Q6A078 Q8BIB8 (UniProt | EBI)

Last sequence update: 2006-10-31
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Centrosomal protein of 290 kDa; Short=Cep290;AltName: Full=Bardet-Biedl syndrome 14 protein homolog;AltName: Full=Nephrocystin-6;

Provider

SWISS-PROT

Sequence

Polypeptide 2472 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Cep290	centrosomal protein 290	68	96	3	17

Sequence references in MGI

J:92575 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2004 Jun 30;11(3):205-18
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:108467 Chang B, et al., In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006 Jun 1;15(11):1847-57
J:111268 Sayer JA, et al., The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006 Jun;38(6):674-81
J:111278 Valente EM, et al., Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5
J:172420 Lancaster MA, et al., Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat Med. 2011 Jun;17(6):726-31
J:173396 Sang L, et al., Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28
J:176174 Garcia-Gonzalo FR, et al., A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Aug;43(8):776-84
J:203124 Zhang Y, et al., BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet. 2014 Jan 1;23(1):40-51
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89