Sequence Detail

ID/Version

Q9R0X5 O88408 A2ADP3 Q9CU92 G9BBQ2 (UniProt | EBI)

Last sequence update: 2013-02-06
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=X-linked retinitis pigmentosa GTPase regulator; Short=mRpgr;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 1001 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Rpgr	retinitis pigmentosa GTPase regulator	37	101	4	13

Sequence references in MGI

J:48951 Yan D, et al., Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem. 1998 Jul 31;273(31):19656-63
J:56612 Kirschner R, et al., RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet. 1999 Aug;8(8):1571-8
J:72570 Kirschner R, et al., DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Hum Genet. 2001 Sep;109(3):271-8
J:99279 Shu X, et al., RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet. 2005 May 1;14(9):1183-97
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:102458 Khanna H, et al., RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem. 2005 Sep 30;280(39):33580-7
J:108467 Chang B, et al., In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet. 2006 Jun 1;15(11):1847-57
J:140894 Brunner S, et al., Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod. 2008 Oct;79(4):608-17
J:160802 Brunner S, et al., Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15
J:168215 Linari M, et al., The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1315-20
J:181417 Wright RN, et al., Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration. Invest Ophthalmol Vis Sci. 2011 Jul;52(8):5189-201
J:196243 Wright RN, et al., RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest Ophthalmol Vis Sci. 2012 Mar;53(3):1519-29
J:237833 Thompson DA, et al., Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. PLoS One. 2012;7(5):e35865
J:264617 Dharmat R, et al., SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 Aug 6;217(8):2851-2865
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89