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RPGR
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.
Protein class
Cancer-related genes, Disease related genes, Human disease related genes
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Endometrial ciliated cells, Hepatic stellate cells, Respiratory ciliated cells)
Immune cell specificity
Immune cell enhanced (neutrophil)
Cell line specificity
Cell line enhanced (HL-60)
Interaction
Interacts with SPATA7 (By similarity). Interacts with CEP290 (By similarity). Interacts with WHRN (By similarity). Interacts with PDE6D (PubMed:9990021, PubMed:23559067, PubMed:24981858). Interacts with RPGRIP1 (PubMed:10958648, PubMed:24981858). Interacts with RPGRIP1L (PubMed:19430481, PubMed:24981858). PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (PubMed:24981858). Isoform 6 interacts with NPM1 (via C-terminus) (PubMed:15772089). Isoform 6 interacts with SMC1A and SMC3 (PubMed:16043481).
Molecular function
Guanine-nucleotide releasing factor
More Types Infomation
- Rabbit Anti-Human RPGR Antibody (MOB-014CQ)
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IHC-P
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For Research Use Only. Not For Clinical Use.