Gene: RP1

Alternate names for this Gene: DCDC4A|ORP1

Gene Summary: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.

Gene is located in Chromosome: 8

Location in Chromosome : 8q11.23-q12.1

Description of this Gene: RP1 axonemal microtubule associated

Type of Gene: protein-coding

rs56204645 in RP1 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs188586526 in RP1 gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs10104997 in RP1 gene and Dengue Shock Syndrome PMID 22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

rs10102164 in RP1 gene and Factor VIII measurement PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

rs9298506 in RP1 gene and Intracranial Aneurysm PMID 20364137 2010 Genome-wide association study of intracranial aneurysm identifies three new risk loci.

PMID 18997786 2008 Susceptibility loci for intracranial aneurysm in European and Japanese populations.

rs35262860 in RP1 gene and Longevity PMID 31413261 2019 A meta-analysis of genome-wide association studies identifies multiple longevity genes.

rs10102164 in RP1 gene and Low density lipoprotein cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs28600710 in RP1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs180729424 in RP1 gene and RETINITIS PIGMENTOSA 1 PMID 11095597 2000 RP1 protein truncating mutations predominate at the RP1 adRP locus.

PMID 20664799 2010 Differential pattern of RP1 mutations in retinitis pigmentosa.

PMID 22052604 2012 RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

PMID 15863674 2005 Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.

PMID 10391211 1999 Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 15933747 2006 A novel missense RP1 mutation in retinitis pigmentosa.

PMID 10484783 1999 Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.

rs28600710 in RP1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1563329888 in RP1 gene and Retinal Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1449723475 in RP1 gene and Retinitis Pigmentosa PMID 11095597 2000 RP1 protein truncating mutations predominate at the RP1 adRP locus.

PMID 16597330 2006 Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

PMID 10484783 1999 Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

PMID 10391211 1999 Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

rs10102164 in RP1 gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs10102164 in RP1 gene and Serum total cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs10104997 in RP1 gene and Severe Dengue PMID 22001756 2011 Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.

rs56204645 in RP1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.