Bos taurus Gene: CEP290
Summary
InnateDB Gene IDBG-630538.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CEP290
Gene Name centrosomal protein of 290 kDa
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000018745
Encoded Proteins
centrosomal protein of 290 kDa
centrosomal protein of 290 kDa
centrosomal protein of 290 kDa
centrosomal protein of 290 kDa
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 5:17902277-17998418
Strand Reverse strand
Band
Transcripts
ENSBTAT00000024961 ENSBTAP00000024961
ENSBTAT00000005450 ENSBTAP00000005450
ENSBTAT00000063396 ENSBTAP00000054733
ENSBTAT00000065117 ENSBTAP00000055652
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 33 interaction(s) predicted by orthology.
Predicted by orthology
Total 33 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007163 establishment or maintenance of cell polarity
GO:0015031 protein transport
GO:0030814 regulation of cAMP metabolic process
GO:0042384 cilium assembly
GO:0045893 positive regulation of transcription, DNA-templated
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:0043234 protein complex
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
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
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
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Bt.229
RefSeq NM_174722 XM_005206049
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas