InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CEP290

Summary

InnateDB Gene

IDBG-50244.6

Last Modified

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

Gene Symbol

CEP290

Gene Name

centrosomal protein 290kDa

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000198707

Encoded Proteins

IDBP-50246

centrosomal protein 290kDa

IDBP-234437

centrosomal protein 290kDa

IDBP-587304

centrosomal protein 290kDa

IDBP-587982

centrosomal protein 290kDa

IDBP-601519

centrosomal protein 290kDa

IDBP-590281

centrosomal protein 290kDa

IDBP-585309

centrosomal protein 290kDa

IDBP-813118

centrosomal protein 290kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 12:88049014-88142216

Strand

Reverse strand

Band

q21.32

Transcripts

ENST00000309041	ENSP00000308021
ENST00000397838	ENSP00000380938
ENST00000547691	ENSP00000446905
ENST00000552810	ENSP00000448012
ENST00000547926	ENSP00000448573
ENST00000550962	ENSP00000447623
ENST00000552770	ENSP00000447527
ENST00000604024	ENSP00000473863

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