ID:RP1_HUMAN DESCRIPTION: RecName: Full=Oxygen-regulated protein 1; AltName: Full=Retinitis pigmentosa 1 protein; AltName: Full=Retinitis pigmentosa RP1 protein; FUNCTION: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). SUBUNIT: Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1 (By similarity). Interacts with MAK (By similarity). SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell projection, cilium, photoreceptor outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors. TISSUE SPECIFICITY: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas. DOMAIN: The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation (By similarity). POLYMORPHISM: Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous state. DISEASE: Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) [MIM:180100]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. SIMILARITY: Contains 2 doublecortin domains. WEB RESOURCE: Name=RetNet; Note=Retinal information network; URL="https://sph.uth.tmc.edu/retnet/"; WEB RESOURCE: Name=Mutations of the RP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rp1mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP1";
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 P56715
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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
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
