RP1

This article is about the protein. For the rocket fuel, see RP-1. For other uses, see RP 1.

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.^[5][6]

RP1
Identifiers
Aliases	RP1, DCDC4A, Oretinitis pigmentosa 1 (autosomal dominant), axonemal microtubule associated, RP1 axonemal microtubule associated
External IDs	OMIM: 603937; MGI: 1341105; HomoloGene: 4564; GeneCards: RP1; OMA:RP1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q11.23-q12.1 Start 54,509,422 bp[1] End 54,871,720 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 A1|1 1.65 cM Start 4,069,780 bp[2] End 4,479,464 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube olfactory zone of nasal mucosa testicle gonad right lung bronchial epithelial cell upper lobe of left lung human kidney retina retinal pigment epithelium Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens ciliary body spermatocyte spermatid iris morula conjunctival fornix cornea More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule binding protein binding Cellular component cytoplasm cell projection photoreceptor outer segment cilium microtubule cytoskeleton photoreceptor inner segment microtubule associated complex axoneme photoreceptor connecting cilium ciliary tip Biological process intracellular signal transduction response to stimulus photoreceptor cell development cell projection organization phototransduction, visible light visual perception axoneme assembly photoreceptor cell outer segment organization photoreceptor cell maintenance retinal rod cell development retinal cone cell development retina development in camera-type eye retina morphogenesis in camera-type eye cellular response to light stimulus positive regulation of non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6101 19888 Ensembl ENSG00000104237 ENSMUSG00000025900 UniProt P56715 P56716 RefSeq (mRNA) NM_006269 NM_001195662 NM_011283 NM_001370921 RefSeq (protein) NP_006260 NP_001362583 NP_001182591 NP_035413 NP_001357850 Location (UCSC) Chr 8: 54.51 – 54.87 Mb Chr 1: 4.07 – 4.48 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains that bind to microtubules and regulate microtubule polymerization. The encoded protein is a protein associated with the photoreceptor cell microtubules in the retina and is necessary for the correct stacking of outer segment disc. This protein and another retinal-specific protein, RP1L1, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptor cells.^[6]

History

Initially named "ORP1" for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'.

Clinical significance

Mutations in this gene cause autosomal dominant or autosomal recessive retinitis pigmentosa.^{[7][8][9][10][11]} Transcript variants produced by alternative promoters and alternative splicing have been discovered that overlap with the current reference sequence and have multiple exons upstream and downstream of the current reference sequence. However, as of 2010, it is currently impossible to determine the biological effectiveness and full-length nature of certain variants.^[6]

See also

• Disc shedding