Rpgr - retinitis pigmentosa GTPase regulator Gene

Also Known as Rd9; Rp3h

Species: Mus musculus

Gene Type: protein coding

Gene ID: 19893

Summary

Predicted to enable guanyl-nucleotide exchange factor activity. Involved in intraciliary transport. Acts upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in several cellular components, including ciliary basal body; photoreceptor distal connecting cilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; nervous system; and sensory organ. Used to study X-linked cone-rod dystrophy 1 and retinitis pigmentosa 3. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator). [provided by Alliance of Genome Resources, Apr 2022]

Rpgr Products (6)

mRNA	Protein	Name
NM_001177950.1	NP_001171421.1	X-linked retinitis pigmentosa GTPase regulator isoform 1
NM_001177951.1	NP_001171422.1	X-linked retinitis pigmentosa GTPase regulator isoform 2
NM_001177952.1	NP_001171423.1	X-linked retinitis pigmentosa GTPase regulator isoform 4
NM_001177953.1	NP_001171424.1	X-linked retinitis pigmentosa GTPase regulator isoform 5
NM_001177954.1	NP_001171425.1	X-linked retinitis pigmentosa GTPase regulator isoform 6
NM_011285.2	NP_035415.1	X-linked retinitis pigmentosa GTPase regulator isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9990021	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within cellular response to light stimulus	IMP IMP: Inferred from mutant phenotype	10725384	MGI
acts upstream of or within eye photoreceptor cell development	IMP IMP: Inferred from mutant phenotype	12651948	MGI
involved in intraciliary transport	IMP IMP: Inferred from mutant phenotype	18579752	MGI
acts upstream of or within retina morphogenesis in camera-type eye	IMP IMP: Inferred from mutant phenotype	10725384	MGI
acts upstream of or within visual perception	IMP IMP: Inferred from mutant phenotype	12651948	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9677393	MGI
located in ciliary basal body	IDA IDA: Inferred from direct assay	16043481	MGI
located in cilium	IDA IDA: Inferred from direct assay	11104772	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	11104772	MGI
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	10725384	MGI
located in photoreceptor distal connecting cilium	IDA IDA: Inferred from direct assay	29899041	MGI
located in sperm flagellum	IDA IDA: Inferred from direct assay	16043481	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
X-linked retinitis pigmentosa GTPase regulator	mRpgr

Rpgr Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	Rpgr	Q9R0X5	RPGRIP1L	Homo sapiens	Q68CZ1	Y2H	19430481

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12154	RPGR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Rpgr	NCBI	NCBI:6103