Description: Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. RefSeq Summary (NM_025114): 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]. Transcript (Including UTRs) Position: hg19 chr12:88,487,375-88,523,653 Size: 36,279 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr12:88,487,541-88,523,608 Size: 36,068 Coding Exon Count: 20
Joubert syndrome nephronophthisis Tory, K. et al. 2007, High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis, J Am Soc Nephrol 2007.
[PubMed 17409309]
NPHP1 and NPHP6 are major genes of nephronophthisis associated with JS.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6PNN2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
