| Gene Information | |
|---|---|
| Gene Name | RPGR |
| Organism | Homo sapiens (Human) |
| Gene Length | 1020 |
| Protein Names | X-linked retinitis pigmentosa GTPase regulator |
| Target Name | x-linked retinitis pigmentosa gtpase regulator |
| Target Type | Clinical trial target |
| Gene Age | 1064 ( ENSG00000156313 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q92834 |
| Gene Card | RPGR |
| Uniprot ID | Q92834 |
| Pfam | PF00415 |
| In ASD | no |
| Allosteric Prediction | no (-0.945741004) |
| Ortholog in Animals | Dog_ RPGR ( ortholog_one2one ) Mouse_ Rpgr ( ortholog_one2one ) Rat_ Rpgr ( ortholog_one2many ) |
| Ohnologs | NA |
| Paralogs | SERGEF, RCC2, RCBTB2, RCBTB1, RCC1L, RCCD1, HERC1, RCC1, ALS2 |
| Tissue | NA |
| Tissue Specificity | Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments. {ECO:0000269|PubMed:12140192}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4JHN (X-ray 1.70A ) 4JHP (X-ray 1.90A ) 4QAM (X-ray 1.83A ) |
| DBSNP | rs62638630 rs62638629 rs62638634 rs111631988 rs1801685 rs62638636 rs62638637 rs62638643 rs62638644 rs137852550 rs5963403 rs62650218 rs62638651 rs62650220 rs1601961064 rs138018739 rs62642057 rs62640587 rs62640589 rs62640590 rs62640593 rs41305223 rs1801687 rs62635003 rs62635004 rs41312104 rs1801688 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9R0X5}. Golgi apparatus {ECO:0000269|PubMed:15772089}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9R0X5}. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with WHRN in the photoreceptor connecting cilium (By similarity). Colocalizes with CEP290 in the photoreceptor connecting cilium (By similarity). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (By similarity). {ECO:0000250|UniProtKB:Q9R0X5}.; [Isoform 6]: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. |
| Mouse PG classification | NA |
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