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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
Polymorphism:
- homozygous Tyr-985 is associated with susceptibility to hypertriglyceridemia
Pathology:
- defects in RP1 are the cause of retinitis pigmentosa type 1
General
microtubule-associated protein (MAP)
phosphoprotein
Properties
SIZE: entity length = 2156 aa
MW = 241 kD
COMPARTMENT: cytoplasm
MOTIF: doublecortin domain {36-118}
doublecortin domain {154-233}
serine-rich region {268-273}
MOTIF: serine residue (SEVERAL)
lysine-rich region {671-675}
MOTIF: lysine residue (SEVERAL)
Ser phosphorylation site {S781}
serine-rich region {1687-1691}
MOTIF: serine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 603937
UniProt P56715
Pfam PF03607
Entrez Gene 6101
Kegg hsa:6101
References
- UniProt :accession P56715
- RetNet; Note: retinal information network
https://sph.uth.tmc.edu/retnet/
- Mutations of the RP1 gene
Retina International's scientific newsletter
http://www.retina-international.org/files/sci-news/rp1mut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RP1