Retinitis pigmentosa GTPase regulator information

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.^[5]^[6]^[7]^[8] 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.^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000156313 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031174 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A (May 1996). "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)". Nature Genetics. 13 (1): 35–42. doi:10.1038/ng0596-35. PMID 8673101. S2CID 31695757.
^ Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W (Jul 1996). "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1". Human Molecular Genetics. 5 (7): 1035–41. doi:10.1093/hmg/5.7.1035. hdl:2066/22748. PMID 8817343.
^ Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H (Sep 2010). "Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration". Human Molecular Genetics. 19 (18): 3591–8. doi:10.1093/hmg/ddq275. PMC 2928130. PMID 20631154.
^ "Entrez Gene: RPGR retinitis pigmentosa GTPase regulator".
^ Khanna H (October 2015). "Photoreceptor Sensory Cilium: Traversing the Ciliary Gate". Cells. 4 (4): 674–86. doi:10.3390/cells4040674. PMC 4695852. PMID 26501325.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000156313 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031174 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8673101-5] Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A (May 1996). "A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)". Nature Genetics. 13 (1): 35–42. doi:10.1038/ng0596-35. PMID 8673101. S2CID 31695757.

[pmid8817343-6] Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W (Jul 1996). "Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1". Human Molecular Genetics. 5 (7): 1035–41. doi:10.1093/hmg/5.7.1035. hdl:2066/22748. PMID 8817343.

[pmid20631154-7] Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H (Sep 2010). "Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration". Human Molecular Genetics. 19 (18): 3591–8. doi:10.1093/hmg/ddq275. PMC 2928130. PMID 20631154.

[entrez-8] "Entrez Gene: RPGR retinitis pigmentosa GTPase regulator".

[pmid26501325-9] Khanna H (October 2015). "Photoreceptor Sensory Cilium: Traversing the Ciliary Gate". Cells. 4 (4): 674–86. doi:10.3390/cells4040674. PMC 4695852. PMID 26501325.

Retinitis pigmentosa GTPase regulator information

and 12 Related for: Retinitis pigmentosa GTPase regulator information

Retinitis pigmentosa GTPase regulator

Retinitis pigmentosa

Locus heterogeneity

RPGRIP1

FTO gene

Pleasantine Mill

PDE6D

CUX1

RPGRIP1L

Chromosome 3

RIMS1

Actin