NP_000319.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
X-linked retinitis pigmentosa GTPase regulator isoform A
NCBI Official Synonym Full Names
retinitis pigmentosa GTPase regulator
NCBI Official Synonym Symbols
CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1 [Similar Products]
NCBI Protein Information
X-linked retinitis pigmentosa GTPase regulator
UniProt Protein Name
X-linked retinitis pigmentosa GTPase regulator
UniProt Synonym Gene Names
UniProt Entry Name
RPGR_HUMAN
NCBI Summary for RPGR
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]
UniProt Comments for RPGR
RPGR: a guanine nucleotide exchange factor (GEF) that plays a role in cilia biogenesis and maintenance. Interacts with the GDP-bound form of the small GTPase RAB8A. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes May be involved in microtubule organization and regulation of transport in primary cilia. Interacts with PDE6D, RPGRIP1, CEP290, and DFNB31. Defects in RPGR are the cause of retinitis pigmentosa (RP3, RP15, and RPDSI), cone-rod dystrophy, X-linked 1 (CORDX1), and macular degeneration, X-linked, atrophic (MDXLA). Six isoforms of the human protein are produced by alternative splicing. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments. Isoform 6 associates with microtubule organizing centers, cilium basal bodies, and cilium axonemes. Interacts with NPM1 (via C-terminus), RPGRIP1L, SMC1A and SMC3.
Protein type: GEFs, Rab; GEFs
Chromosomal Location of Human Ortholog: Xp21.1
Cellular Component: centrosome; Golgi apparatus; photoreceptor connecting cilium; photoreceptor outer segment
Molecular Function: guanyl-nucleotide exchange factor activity; protein binding
Biological Process: cilium biogenesis; eye photoreceptor cell development; intracellular protein transport; intraflagellar transport; positive regulation of GTPase activity; retina morphogenesis in camera-type eye; visual perception
Disease: Cone-rod Dystrophy, X-linked, 1; Macular Degeneration, X-linked Atrophic; Retinitis Pigmentosa 3; Retinitis Pigmentosa, X-linked, And Sinorespiratory Infections, With Or Without Deafness
Research Articles on RPGR
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Products associated with anti-RPGR antibody
Diseases associated with anti-RPGR antibody
Disease Name |
Pubmed Publications |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Antibodies |
>35607 publications with RPGR and Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
Retinitis Pigmentosa Antibodies |
>254 publications with RPGR and Retinitis Pigmentosa |
Retinal Degeneration Antibodies |
>226 publications with RPGR and Retinal Degeneration |
Retinal Dystrophies Antibodies |
>198 publications with RPGR and Retinal Dystrophies |
CONE-ROD DYSTROPHY, X-LINKED, 1 Antibodies |
>91 publications with RPGR and CONE-ROD DYSTROPHY, X-LINKED, 1 |
Retinitis Pigmentosa 3 Antibodies |
>76 publications with RPGR and Retinitis Pigmentosa 3 |
Atrophy Antibodies |
>18 publications with RPGR and Atrophy |
Hearing Loss Antibodies |
>12 publications with RPGR and Hearing Loss |
Chromosome Aberrations Antibodies |
>7 publications with RPGR and Chromosome Aberrations |
Kidney Diseases Antibodies |
>5 publications with RPGR and Kidney Diseases |
Organs/Tissues associated with anti-RPGR antibody
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