InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Cep290

Summary

InnateDB Protein

IDBP-626075.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Cep290

Protein Name

centrosomal protein 290

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000130899

InnateDB Gene

IDBG-188035 (Cep290)

Protein Structure

UniProt Annotation

Function

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Activates ATF4-mediated transcription (By similarity). Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. {ECO:0000250, ECO:0000269PubMed:16632484, ECO:0000269PubMed:21565611, ECO:0000269PubMed:21725307}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Nucleus {ECO:0000250}. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (By similarity). Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Disease Associations

Note=Defects in Cep290 are a cause of early-onset retinal degeneration with autosomal recessive inheritance. The rd16 mutant carries a deletion of residues 1599-1897 in the Cep290 protein. Homozygous rd16 mice are characterized by the appearance of white retinal vessels at 1 month of age and large pigment patches at 2 months. Retinal degeneration is apparent as early as postnatal day 19 and progresses with age. The rd16 retina exhibits altered disitribution of Rpgr and phototransduction proteins within the photoreceptor cells.

Tissue Specificity

Expressed in multiple organs during early postnatal development, with highest levels in hindbrain. {ECO:0000269PubMed:16682970}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	43 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	13 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0007163	establishment or maintenance of cell polarity
GO:0015031	protein transport
GO:0030814	regulation of cAMP metabolic process
GO:0030902	hindbrain development
GO:0030916	otic vesicle formation
GO:0042384	cilium assembly
GO:0042462	eye photoreceptor cell development
GO:0045893	positive regulation of transcription, DNA-templated
GO:0048793	pronephros development
GO:0060041	retina development in camera-type eye
GO:0060271	cilium morphogenesis
GO:0070201	regulation of establishment of protein localization
GO:0090316	positive regulation of intracellular protein transport

Cellular Component

GO:0000930	gamma-tubulin complex
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005829	cytosol
GO:0016020	membrane
GO:0032391	photoreceptor connecting cilium
GO:0034451	centriolar satellite
GO:0036038	TCTN-B9D complex
GO:0036064	ciliary basal body
GO:0043234	protein complex