Mus musculus Gene: Cep290
Summary
InnateDB Gene IDBG-188035.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cep290
Gene Name centrosomal protein 290
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000019971
Encoded Proteins
centrosomal protein 290
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000198707:
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 10:100488289-100573655
Strand Forward strand
Band D1
Transcripts
ENSMUST00000164751 ENSMUSP00000130899
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Recruitment of mitotic centrosome proteins and complexes pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Loss of Nlp from mitotic centrosomes pathway
Cell Cycle pathway
Mitotic G2-G2/M phases pathway
Loss of proteins required for interphase microtubule organization� from the centrosome pathway
Regulation of PLK1 Activity at G2/M Transition pathway
Centrosome maturation pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Regulation of PLK1 Activity at G2/M Transition pathway
Loss of Nlp from mitotic centrosomes pathway
Loss of proteins required for interphase microtubule organization� from the centrosome pathway
Recruitment of mitotic centrosome proteins and complexes pathway
Cell Cycle pathway
Centrosome maturation pathway
G2/M Transition pathway
Cell Cycle, Mitotic pathway
Mitotic G2-G2/M phases pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q6A078
TrEMBL E9Q9M0
UniProt Splice Variant
Entrez Gene 216274
UniGene Mm.229114
RefSeq NM_146009 XM_006513528
OMIM
CCDS CCDS48685
HPRD
IMGT
MGI ID MGI:2384917
MGI Symbol Cep290
EMBL AC153501 AK029960 AK172940
GenPept BAC26700 BAD32218
RNA Seq Atlas 216274