Summary: 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. [provided by RefSeq, Dec 2008].

retinitis pigmentosa GTPase regulatorMIM:312610Ensembl:ENSG00000156313HGNC:HGNC:10295PA34656Xp11.4

GO terms in RPGR

Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0001750photoreceptor outer segment
CCIDAGO:0005794Golgi apparatus
CCISSGO:0005794Golgi apparatus
CCISSGO:0036064ciliary basal body
CCISSGO:0036126sperm flagellum
BPTASGO:0006886intracellular protein transport
BPIMPGO:0007601visual perception
BPISSGO:0042073intraciliary transport
BPIEAGO:0050896response to stimulus
BPIMPGO:0060271cilium assembly
MFHDAGO:0003723RNA binding
MFIEAGO:0005085guanyl-nucleotide exchange factor activity
MFIPIGO:0005515protein binding

Gene expression in normal tissue: RPGR

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in RPGR

DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RPGR