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RPGR

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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
retinitis pigmentosa GTPase regulator	MIM:312610	Ensembl:ENSG00000156313	HGNC:HGNC:10295	PA34656	Xp11.4

GO terms in RPGR

Term Type	Evidence Type	GO Term ID	GO Des.
CC	IDA	GO:0001750	photoreceptor outer segment
CC	IDA	GO:0005794	Golgi apparatus
CC	ISS	GO:0005794	Golgi apparatus
CC	IDA	GO:0005813	centrosome
CC	ISS	GO:0036064	ciliary basal body
CC	ISS	GO:0036126	sperm flagellum
BP	TAS	GO:0006886	intracellular protein transport
BP	IMP	GO:0007601	visual perception
BP	ISS	GO:0042073	intraciliary transport
BP	IEA	GO:0050896	response to stimulus
BP	IMP	GO:0060271	cilium assembly
MF	HDA	GO:0003723	RNA binding
MF	IEA	GO:0005085	guanyl-nucleotide exchange factor activity
MF	IPI	GO:0005515	protein binding

Gene expression in normal tissue: RPGR

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in RPGR

Database	Pathway ID	Pathway Des.

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD398	Sepantronium	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RPGR

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