Property Summary

NCBI Gene PubMed Count 115
Grant Count 96
R01 Count 69
Funding $17,274,939.29
PubMed Score 248.82
PubTator Score 280.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
ependymoma 2.400 0.007
psoriasis -2.000 0.000
osteosarcoma -2.878 0.000
tuberculosis -1.600 0.000
non-small cell lung cancer -1.316 0.000
lung cancer -2.200 0.000
lung adenocarcinoma -1.200 0.000
Breast cancer -1.300 0.000
pituitary cancer -3.000 0.000

Synonym

Accession Q92834 B1ARN3 E9PE28 O00702 O00737 Q3KN84 Q8N5T6 Q93039 Q9HD29 Q9UMR1
Symbols CRD
RP3
COD1
PCDX
RP15
XLRP3
orf15
CORDX1

Gene

PDB

4JHP   4JHN   4QAM  

Gene RIF (76)

PMID Text
26431479 The regulator of chromosome condensation 1-like domain of RPGR was conserved in vertebrates and invertebrates, but RPGR(ORF15) was unique to vertebrates.
25569437 Coverage-based analysis indicated that the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients.
25556114 The edge of the ellipsoid zone in each patient with X-linked retinitis pigmentosa indicates a transition zone between relatively healthy and relatively degenerate retina.
25352739 Severe retinal degeneration is found in a Czech family women with a c.2543del mutation in ORF15 of the RPGR gene.
25301933 X-linked retinitis pigmentosa caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration. [review]
24664734 We will summarize the functional characterization of RPGR and highlight recent studies in animal models, which will not only shed light on the disease mechanisms in X linked retinitis pigmentosa but will also provide therapeutic strategies for treatment.
24555744 Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype.
24489377 A novel RPGR gene was found in a retinal dystrophy patient in a family with Stargardt disease.
24454928 RPGR mutations associated with X-linked retinitis pigmentosa.
24428633 Although carriers of XLRP are usually asymptomatic or have a mild disease of late onset, the proband presented here exhibited an early-onset, aggressive form of the disease.
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AA Sequence

MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLG      1 - 70
SKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEH     71 - 140
KIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGE    141 - 210
LYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFL    211 - 280
FETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFI    281 - 350
VKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD    351 - 420
SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTV    421 - 490
ESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK    491 - 560
QHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGG    561 - 630
HSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQD    631 - 700
VIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKET    701 - 770
KPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAE    771 - 840
DHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEE    841 - 910
RAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSI    911 - 980
GDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL                                  981 - 1020
//

Text Mined References (118)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
26431479 2015 Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene.
25569437 2015 Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.
25556114 2015 Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.
25416956 2014 A proteome-scale map of the human interactome network.
25352739 2014 Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
25301933 2014 Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.
24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.
More...