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MGI:Cep290
Contents |
| Species (Taxon ID) | Mus musculus (house mouse) (taxon:10090) | |
| Gene Name(s) | Cep290 ( synonyms: Nphp6 ) | |
| Protein Name(s) | centrosomal protein 290, | |
| External Links | ||
| MGI | MGI:2384917 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005515 |
protein binding |
MGI:MGI:5013991 |
IPI: Inferred from Physical Interaction |
F |
From MGI |
|||
| GO:0005634 |
nucleus |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005737 |
cytoplasm |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005813 |
centrosome |
MGI:MGI:3624140 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0005813 |
centrosome |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005829 |
cytosol |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0005856 |
cytoskeleton |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0206 |
C |
From MGI |
||
| GO:0005929 |
cilium |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0969 |
C |
From MGI |
||
| GO:0006351 |
transcription, DNA-dependent |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0804 |
P |
From MGI |
||
| GO:0006355 |
regulation of transcription, DNA-dependent |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0805 |
P |
From MGI |
||
| GO:0006810 |
transport |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0813 |
P |
From MGI |
||
| GO:0009986 |
cell surface |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
C |
From MGI |
|||
| GO:0015031 |
protein transport |
MGI:MGI:3624140 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0030030 |
cell projection organization |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0970 |
P |
From MGI |
||
| GO:0032391 |
photoreceptor connecting cilium |
MGI:MGI:3624140 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0032391 |
photoreceptor connecting cilium |
MGI:MGI:3653539 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0036038 |
TCTN-B9D complex |
MGI:MGI:5288576 |
IDA: Inferred from Direct Assay |
C |
From MGI |
|||
| GO:0042384 |
cilium assembly |
MGI:MGI:5013991 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0042995 |
cell projection |
MGI:MGI:1354194 |
IEA: Inferred from Electronic Annotation |
UniProtKB-KW:KW-0966 |
C |
From MGI |
||
| GO:0045893 |
positive regulation of transcription, DNA-dependent |
MGI:MGI:4834177 |
ISO: Inferred from Sequence Orthology |
P |
From MGI |
|||
| GO:0060041 |
retina development in camera-type eye |
MGI:MGI:4849309 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
|||
| GO:0060271 |
cilium morphogenesis |
MGI:MGI:5288576 |
IMP: Inferred from Mutant Phenotype |
P |
From MGI |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 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 2.2 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
- ↑ 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 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
- ↑ Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol 2011: 391384 PubMed GONUTS page
