oxygen-regulated protein 1; retinitis pigmentosa 1 protein; retinitis pigmentosa RP1 protein (RP1 ORP1)

Function

• microtubule-associated protein
• regulates stability & length of microtubule-based axoneme of photoreceptors
• required for differentiation of photoreceptor cells
• role in organization of the outer segment of rod & cone photoreceptors ensuring the correct orientation & higher order stacking of outer segment disks along the photoreceptor axoneme
• interacts (via the doublecortin domains) with microtubules
• interacts with RP1L1 (putative
• interacts with MAK (putative)

Structure

• the doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization & function in photoreceptor differentiation
• contains 2 doublecortin domains

Compartment

• cytoplasm, cytoskeleton, cilium axoneme
• cell projection, cilium, photoreceptor outer segment
• specifically localized in the connecting cilia of rod & cone photoreceptors

Expression

• expressed in retina
• not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen or pancreas

Pathology

• defects in RP1 are the cause of retinitis pigmentosa type 1

Polymorphism

• homozygous Tyr-985 is associated with susceptibility to hypertriglyceridemia

More general terms

• phosphoprotein
• microtubule-associated protein (MAP)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6101
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6101
• OMIM: https://mirror.omim.org/entry/145750
• OMIM: https://mirror.omim.org/entry/180100
• OMIM: https://mirror.omim.org/entry/603937
• UniProt: http://www.uniprot.org/uniprot/P56715.html