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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22105 NM_001034853 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu22373 NM_000328 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu54007 XM_006724538 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu54008 XM_005272633 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu22105C NM_001034853 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. Customized vector On-demand TBD $1699.00
OHu22373C NM_000328 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. Customized vector On-demand 12-14 $329.00
OHu54007C XM_006724538 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X2, mRNA. Customized vector On-demand 25 $1699.00
OHu54008C XM_005272633 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X1, mRNA. Customized vector On-demand 12-14 $329.00

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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?

Interactant

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