RP1 Chromosome 8
RP1 axonemal microtubule associated
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What This Gene Does
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.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Doublecortin superfamily
Locus Type
gene with protein product
Location
8q11.23-q12.1
Ensembl
ENSG00000104237
Associated Conditions (10)
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa 1
RP1-related disorder
Leber congenital amaurosis 1
Retinal disorder
RP1-related recessive retinopathy
Autosomal recessive retinitis pigmentosa
Cone-rod dystrophy
Key Variants
RS111445591
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS112323560
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Inborn genetic diseases, Retinitis pigmentosa
Health Risk
RS1159796938
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS118031911
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 1, Retinal dystrophy
Health Risk
RS1371672240
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS138106612
Conflicting classifications of pathogenicity
RP1-related disorder, RP1-related disorder
Health Risk
RS139294220
Conflicting classifications of pathogenicity
Retinitis pigmentosa, RP1-related disorder, Retinitis pigmentosa
Health Risk
RS141279458
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS142600056
Conflicting classifications of pathogenicity
Retinitis pigmentosa 1, Retinitis pigmentosa, Retinitis pigmentosa 1
Health Risk
RS143494598
Conflicting classifications of pathogenicity
Retinitis pigmentosa 1, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS144999144
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145661075
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (337)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1805856024 | Health Risk | Pathogenic | — |
| RS1805857731 | Health Risk | Pathogenic | — |
| RS1805867082 | Health Risk | Pathogenic | — |
| RS1805900125 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1805978316 | Health Risk | Pathogenic | — |
| RS1805984836 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 1, Retinitis pigmentosa |
| RS1806028872 | Health Risk | Pathogenic | — |
| RS1806031833 | Health Risk | Pathogenic | — |
| RS1806032708 | Health Risk | Pathogenic | — |
| RS1806033441 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1806033714 | Health Risk | Pathogenic | — |
| RS1806033844 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS1806036718 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1806040543 | Health Risk | Pathogenic | — |
| RS1806042579 | Health Risk | Pathogenic | — |
| RS1806057524 | Health Risk | Pathogenic | — |
| RS1806061474 | Health Risk | Pathogenic | — |
| RS1806069993 | Health Risk | Pathogenic | — |
| RS1806079109 | Health Risk | Pathogenic | — |
| RS1806088386 | Health Risk | Pathogenic | — |
| RS1806096563 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1806099964 | Health Risk | Pathogenic | — |
| RS1806103875 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1806120012 | Health Risk | Pathogenic | — |
| RS1806128079 | Health Risk | Pathogenic | — |
| RS1806128576 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS1806144355 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1806153102 | Health Risk | Pathogenic | — |
| RS1806171937 | Health Risk | Pathogenic | — |
| RS1806185357 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1806205612 | Health Risk | Pathogenic | — |
| RS1806207146 | Health Risk | Pathogenic | — |
| RS2129314132 | Health Risk | Pathogenic | — |
| RS2129314417 | Health Risk | Pathogenic | — |
| RS2129314434 | Health Risk | Pathogenic | — |
| RS2129314450 | Health Risk | Pathogenic | — |
| RS2129314462 | Health Risk | Pathogenic | Retinitis pigmentosa 1, Retinitis pigmentosa 1 |
| RS2129316028 | Health Risk | Pathogenic | — |
| RS2129316266 | Health Risk | Pathogenic | — |
| RS2129316272 | Health Risk | Pathogenic | — |
| RS2129316318 | Health Risk | Pathogenic | — |
| RS2129316376 | Health Risk | Pathogenic | Retinitis pigmentosa 1, Retinitis pigmentosa 1, Retinitis pigmentosa 1 |
| RS2129316381 | Health Risk | Pathogenic | — |
| RS2129316413 | Health Risk | Pathogenic | — |
| RS2129316415 | Health Risk | Pathogenic | Retinitis pigmentosa 1, Retinitis pigmentosa 1 |
| RS2129316422 | Health Risk | Pathogenic | — |
| RS2129316431 | Health Risk | Pathogenic | — |
| RS2129316466 | Health Risk | Pathogenic | — |
| RS2129316479 | Health Risk | Pathogenic | — |
| RS2129316492 | Health Risk | Pathogenic | — |