Retinitis pigmentosa GTPase regulator

RPGR
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4JHN, 4JHP, 4QAM
Identifiers
Aliases	RPGR, COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15, Retinitis pigmentosa GTPase regulator
External IDs	OMIM: 312610; MGI: 1344037; HomoloGene: 55455; GeneCards: RPGR; OMA:RPGR - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	38,327,564 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	10,083,159 bp
RNA expression pattern
	Top expressed in
	sperm; ; bronchial epithelial cell; ; right uterine tube; ; right lung; ; anterior pituitary; ; mucosa of paranasal sinus; ; tibial nerve; ; subcutaneous adipose tissue; ; Epithelium of choroid plexus; ; upper lobe of left lung;
	Top expressed in
	saccule; ; medial ganglionic eminence; ; otic placode; ; nucleus accumbens; ; otic vesicle; ; olfactory epithelium; ; dorsal striatum; ; superior cervical ganglion; ; substantia nigra; ; spermatid;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; guanyl-nucleotide exchange factor activity; RNA binding;
Cellular component	cytoplasm; ciliary basal body; centrosome; photoreceptor outer segment; cell projection; sperm flagellum; cilium; cytoskeleton; microtubule organizing center; Golgi apparatus; motile cilium;
Biological process	intracellular protein transport; cell projection organization; response to stimulus; visual perception; intraciliary transport; cilium assembly; regulation of molecular function;
	Sources:Amigo / QuickGO
Orthologs
	6103
	19893
	ENSG00000156313
	ENSMUSG00000031174
	Q92834
	Q9R0X5
	NM_000328; NM_001023582; NM_001034853
NM_001177950; NM_001177951; NM_001177952; NM_001177953; NM_001177954;
	NM_011285
NP_000319; NP_001030025; NP_001354174; NP_001354175; NP_001354176;
	NP_001354177; NP_001354178; NP_001354179; NP_001354180
NP_001171421; NP_001171422; NP_001171423; NP_001171424; NP_001171425;
	NP_035415
	Wikidata
View/Edit Human	View/Edit Mouse

X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments.