InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CEP290

Summary

InnateDB Protein

IDBP-587982.3

Last Modified

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

Gene Symbol

CEP290

Protein Name

centrosomal protein 290kDa

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000448012

InnateDB Gene

IDBG-50244 (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 (By similarity). Activates ATF4-mediated transcription. 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:16682973}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=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 (By similarity). Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock. {ECO:0000250}.

Disease Associations

Joubert syndrome 5 (JBTS5) [MIM:610188]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. {ECO:0000269PubMed:16682970, ECO:0000269PubMed:16682973, ECO:0000269PubMed:22425360}. Note=The disease is caused by mutations affecting the gene represented in this entry.Senior-Loken syndrome 6 (SLSN6) [MIM:610189]: A renal- retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269PubMed:20683928}. Note=The disease is caused by mutations affecting the gene represented in this entry.Leber congenital amaurosis 10 (LCA10) [MIM:611755]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:16909394}. Note=The disease is caused by mutations affecting the gene represented in this entry.Meckel syndrome 4 (MKS4) [MIM:611134]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:17564974}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. {ECO:0000269PubMed:11149944}.Bardet-Biedl syndrome 14 (BBS14) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269PubMed:18327255}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269PubMed:11149944, ECO:0000269PubMed:16682973}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 24 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	17 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	24 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000278	mitotic cell cycle
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