Centrosomal protein 290 (Q21983031)

http://www.ebi.ac.uk/interpro/protein/Q6A078

Centrosomal protein of 290kDa, coiled-coil region, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

25 May 2022

1 reference

25 May 2022

6 references

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

microtubule minus-end binding

IPI

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

identical protein binding

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

2 references

2 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

5 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Community Assessment of Community Annotation with Ontologies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

1 reference

14 February 2019

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

photoreceptor outer segment

IDA

1 reference

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

4 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

photoreceptor connecting cilium

IDA

3 references

14 February 2019

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

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

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

microtubule organizing center

IDA

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

4 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

2 references

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

protein-containing complex

1 reference

14 February 2019

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

ISO

biological process

pronephros development

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

regulation of transcription, DNA-templated

1 reference

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q6A078&geneProductId=UniProtKB:Q6A078

otic vesicle formation

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

hindbrain development

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

transcription, DNA-templated

1 reference

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q6A078&geneProductId=UniProtKB:Q6A078

establishment or maintenance of cell polarity

1 reference

14 February 2019

3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

1 reference

14 February 2019

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

determination of left/right symmetry

IMP

1 reference

14 February 2019

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

cell projection organization

IMP

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

retina development in camera-type eye

1 reference

14 February 2019

Mouse model resources for vision research

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

regulation of establishment of protein localization

IMP

1 reference

14 February 2019

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

eye photoreceptor cell development

ISO

1 reference

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

4 references

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

14 February 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q6A078

Centrosomal protein of 290kDa, coiled-coil region

has part(s)

1 reference

stated in

InterPro Release 71.0