MOUSE:CE290

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Cep290 (ECO:0000312 with MGI:MGI:2384917)
Protein Name(s)	Centrosomal protein of 290 kDa Cep290 Bardet-Biedl syndrome 14 protein homolog Nephrocystin-6
External Links
UniProt	Q6A078
EMBL	AK029960 AC153501 AK172940
RefSeq	NP_666121.2 XP_006513591.1
UniGene	Mm.229114
BioGrid	229729
DIP	DIP-46317N
IntAct	Q6A078
PhosphoSite	Q6A078
MaxQB	Q6A078
PaxDb	Q6A078
PRIDE	Q6A078
GeneID	216274
KEGG	mmu:216274
UCSC	uc007gxw.2
CTD	80184
MGI	MGI:2384917
eggNOG	NOG12793
HOGENOM	HOG000111526
HOVERGEN	HBG081077
InParanoid	Q6A078
KO	K16533
PhylomeDB	Q6A078
Reactome	REACT_196635 REACT_243078 REACT_244487 REACT_245720
ChiTaRS	Cep290
NextBio	375097
PRO	PR:Q6A078
Proteomes	UP000000589
Bgee	Q6A078
CleanEx	MM_CEP290
ExpressionAtlas	Q6A078
Genevestigator	Q6A078
GO	GO:0034451 GO:0005813 GO:0036064 GO:0005829 GO:0000930 GO:0016020 GO:0005634 GO:0032391 GO:0043234 GO:0036038 GO:0042384 GO:0060271 GO:0007163 GO:0042462 GO:0030902 GO:0030916 GO:0090316 GO:0045893 GO:0048793 GO:0015031 GO:0030814 GO:0070201 GO:0060041 GO:0006351
InterPro	IPR026201
PANTHER	PTHR18879

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0005813	centrosome	PMID:21565611^[1]	ECO:0000314			C		Figure 3 C shows localization to centrosome	complete CACAO 7569
involved_in	GO:0060271	cilium assembly	PMID:21725307^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:21565611^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
NOT\|enables	GO:0051011	microtubule minus-end binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	F		Seeded From UniProt	complete
involved_in	GO:0048793	pronephros development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P85001	P		Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	P		Seeded From UniProt	complete
involved_in	GO:0042462	eye photoreceptor cell development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P85001	P		Seeded From UniProt	complete
involved_in	GO:0030916	otic vesicle formation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P85001	P		Seeded From UniProt	complete
involved_in	GO:0030902	hindbrain development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P85001	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
colocalizes_with	GO:0000930	gamma-tubulin complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
involved_in	GO:0090316	positive regulation of intracellular protein transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:21565611^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	PMID:21725307^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	PMID:16682973^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	PMID:16632484^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0015031	protein transport	PMID:16632484^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:16632484^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:24927541^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:0000515)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:22832925^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:1000546)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0090316	positive regulation of intracellular protein transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0070201	regulation of establishment of protein localization	PMID:24421332^[7]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060271	cilium assembly	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060041	retina development in camera-type eye	PMID:21052544^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	results_in_development_of:(EMAPA:17168)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045494	photoreceptor cell maintenance	PMID:23943788^[9]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:2143311	P	occurs_in:(EMAPA:17168)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045494	photoreceptor cell maintenance	PMID:23943788^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:3624136	P	occurs_in:(EMAPA:17168)	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	F		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1311640	C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	PMID:22446187^[10]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0010009) part_of:(EMAPA:17168)\|part_of:(CL:0000589) part_of:(EMAPA:17597)	Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	PMID:27979967^[11]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	PMID:24469809^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0034451	centriolar satellite	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0032991	protein-containing complex	PMID:24421332^[7]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0032391	photoreceptor connecting cilium	PMID:23943788^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0010009) part_of:(EMAPA:17168)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007507	heart development	PMID:25807483^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007368	determination of left/right symmetry	PMID:25807483^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007163	establishment or maintenance of cell polarity	PMID:22832925^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	occurs_in:(CL:1000546)	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005814	centriole	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
colocalizes_with	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0001750	photoreceptor outer segment	PMID:23943788^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:17168)	Seeded From UniProt	complete
colocalizes_with	GO:0000930	gamma-tubulin complex	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O15078	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR026201	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR026201	C		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR026201	P		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
involved_in	GO:0030030	cell projection organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0970	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
involved_in	GO:0015031	protein transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0653	P		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969 UniProtKB-SubCell:SL-0066	C		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0968	C		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C		Seeded From UniProt	complete
part_of	GO:0005814	centriole	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0046	C		Seeded From UniProt	complete
part_of	GO:0005815	microtubule organizing center	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0048	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page
↑ ^2.0 ^2.1 Garcia-Gonzalo, FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43 776-84 PubMed GONUTS page
↑ Sayer, JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38 674-81 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Chang, B et al. (2006) 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. 15 1847-57 PubMed GONUTS page
↑ Fu, W et al. (2014) Primary cilia control hedgehog signaling during muscle differentiation and are deregulated in rhabdomyosarcoma. Proc. Natl. Acad. Sci. U.S.A. 111 9151-6 PubMed GONUTS page
↑ ^6.0 ^6.1 Ghosh, AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am. J. Physiol. Renal Physiol. 303 F1225-9 PubMed GONUTS page
↑ ^7.0 ^7.1 Kobayashi, T et al. (2014) The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly. J. Cell Biol. 204 215-29 PubMed GONUTS page
↑ Won, J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011 391384 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 Zhang, Y et al. (2014) BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum. Mol. Genet. 23 40-51 PubMed GONUTS page
↑ Rachel, RA et al. (2012) Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J. Clin. Invest. 122 1233-45 PubMed GONUTS page
↑ Zhang, B et al. (2017) DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. J. Biol. Chem. 292 1351-1360 PubMed GONUTS page
↑ Ye, X et al. (2014) C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. Proc. Natl. Acad. Sci. U.S.A. 111 2164-9 PubMed GONUTS page
↑ ^13.0 ^13.1 Li, Y et al. (2015) Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature 521 520-4 PubMed GONUTS page

[PMID:21565611-1] 1.0 ^1.1 ^1.2 Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page

[PMID:21725307-2] 2.0 ^2.1 Garcia-Gonzalo, FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43 776-84 PubMed GONUTS page

[PMID:16682973-3] Sayer, JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38 674-81 PubMed GONUTS page

[PMID:16632484-4] 4.0 ^4.1 ^4.2 Chang, B et al. (2006) 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. 15 1847-57 PubMed GONUTS page

[PMID:24927541-5] Fu, W et al. (2014) Primary cilia control hedgehog signaling during muscle differentiation and are deregulated in rhabdomyosarcoma. Proc. Natl. Acad. Sci. U.S.A. 111 9151-6 PubMed GONUTS page

[PMID:22832925-6] 6.0 ^6.1 Ghosh, AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am. J. Physiol. Renal Physiol. 303 F1225-9 PubMed GONUTS page

[PMID:24421332-7] 7.0 ^7.1 Kobayashi, T et al. (2014) The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly. J. Cell Biol. 204 215-29 PubMed GONUTS page

[PMID:21052544-8] Won, J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011 391384 PubMed GONUTS page

[PMID:23943788-9] 9.0 ^9.1 ^9.2 ^9.3 Zhang, Y et al. (2014) BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum. Mol. Genet. 23 40-51 PubMed GONUTS page

[PMID:22446187-10] Rachel, RA et al. (2012) Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J. Clin. Invest. 122 1233-45 PubMed GONUTS page

[PMID:27979967-11] Zhang, B et al. (2017) DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle. J. Biol. Chem. 292 1351-1360 PubMed GONUTS page

[PMID:24469809-12] Ye, X et al. (2014) C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. Proc. Natl. Acad. Sci. U.S.A. 111 2164-9 PubMed GONUTS page

[PMID:25807483-13] 13.0 ^13.1 Li, Y et al. (2015) Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature 521 520-4 PubMed GONUTS page

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MOUSE:CE290

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