Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Cep290. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Cep290
  • is located in the following cellular components:
    • centrosome ^[1]
    • photoreceptor connecting cilium ^{[1, 5]}
    • TCTN-B9D complex ^[2]
• The gene product of Cep290 has been shown to bind to the gene products of Cep120, Iqcb1. ^{[4, 7]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Cep290
  • participates in the following biological processes:
    • cilium assembly ^[4]
    • cilium morphogenesis ^{[2, 3]}
    • establishment or maintenance of cell polarity ^[3]
    • protein transport ^[1]
    • regulation of cAMP metabolic process ^[3]
    • retina development in camera-type eye ^[6]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Cep290:
  • participates in the following biological processes:
    • positive regulation of transcription, DNA-dependent
  • is located in the following cellular components:
    • cell surface
    • centrosome
    • cytoplasm
    • cytosol
    • nucleus

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Cep290 indicates that it:
  • participates in the following biological processes:
    • cell projection organization
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
    • transport
  • is located in the following cellular components:
    • cell projection
    • cilium
    • cytoskeleton

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References

1. Chang B et al. (2006) In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet, 15:1847-57. (PubMed:16632484)
2. Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet, 43:776-84. (PubMed:21725307)
3. Ghosh AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am J Physiol Renal Physiol, 303:F1225-9. (PubMed:22832925)
4. Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell, 145:513-28. (PubMed:21565611)
5. Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet, 38:674-81. (PubMed:16682973)
6. Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol, 2011:391384. (PubMed:21052544)
7. Xie Z et al. (2007) Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. Neuron, 56:79-93. (PubMed:17920017)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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