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RPGR retinitis pigmentosa GTPase regulator [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000328 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001034853 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005272633 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006724538 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol RPGR
Entrez Gene ID 6103
Full Name retinitis pigmentosa GTPase regulator
Synonyms COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
General protein information
Preferred Names
X-linked retinitis pigmentosa GTPase regulator
Names
X-linked retinitis pigmentosa GTPase regulator
retinitis pigmentosa 15
retinitis pigmentosa 3 GTPase regulator
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp21.1

Summary 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].
Disorder

MIM: 312610

Retinitis pigmentosa-3, 300029 (3); Cone-rod dystrophy-1, 304020 (3);

mRNA Protein Product Sequence Price Select
NM_000328, 66932995 NP_000319, 4506581 X-linked retinitis pigmentosa GTPase regulator isoform A ORF Sequence $750.00
NM_001034853, 78190491 NP_001030025, 78190492 X-linked retinitis pigmentosa GTPase regulator isoform C ORF Sequence $1500.00
XM_005272633, 530421508 XP_005272690, 530421509 X-linked retinitis pigmentosa GTPase regulator isoform X1 ORF Sequence $700.00
XM_006724538, 578838048 XP_006724601, 578838049 X-linked retinitis pigmentosa GTPase regulator isoform X2 ORF Sequence $1500.00
Homo sapiens (human)RPGRNP_000319.1
Pan troglodytes (chimpanzee)RPGRXP_003954016.1
Canis lupus familiaris (dog)RPGRNP_001003126.1
Mus musculus (house mouse)RpgrNP_001171421.1
Rattus norvegicus (Norway rat)RpgrXP_006256751.1
Danio rerio (zebrafish)rpgrbXP_005169406.1
Xenopus (Silurana) tropicalis (western clawed frog)rpgrNP_001037872.1
Process
IDNameEvidence
GO:0006886intracellular protein transportTAS
GO:0007601visual perceptionIMP
GO:0042073intraciliary transportISS
GO:0042384cilium assemblyIMP
GO:0042462eye photoreceptor cell developmentIEA
GO:0043547positive regulation of GTPase activityIEA
GO:0050896response to stimulusIEA
Component
IDNameEvidence
GO:0001750photoreceptor outer segmentIDA
GO:0005794Golgi apparatusISS
GO:0005813centrosomeIDA
GO:0036064ciliary basal bodyISS
GO:0036126sperm flagellumISS
Function
IDNameEvidence
GO:0005085guanyl-nucleotide exchange factor activityIEA
GO:0005515protein bindingIPI
GO:0044822poly(A) RNA bindingIDA
GeneCards RPGR
UniProt Q92834
Vega OTTHUMG00000021361
MIM 312610
Ensembl ENSG00000156313
HGNC 10295
HPRD 02425

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the RPGR gene?

The RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies suggest that it plays an important role in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input, including hearing, smell, and vision.

Several different versions (isoforms) of the RPGR protein are produced from the RPGR gene. One version contains a segment known as the ORF15 exon. This version of the RPGR protein is active (expressed) predominantly in the retina, which is the light-sensitive tissue at the back of the eye. Specifically, the ORF15-containing isoform is found in the retina's specialized light receptor cells (photoreceptors). Researchers suspect that this isoform may help maintain photoreceptors by regulating the function of cilia. Other isoforms of the RPGR protein are expressed in other parts of the body, where they are probably also involved in cilia function.

Interactant

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