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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001034853 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_001034853.1, 78190491
Length 4718 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.
Product X-linked retinitis pigmentosa GTPase regulator isoform C
Comment

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].


Transcript Variant: This variant (C) encodes the longest isoform (C).

RefSeq NP_001030025.1
CDS 169..3627
Misc Feature(1)28..30
Misc Feature(2)280..366
Misc Feature(3)280..366
Misc Feature(4)331..471
Misc Feature(5)484..633
Misc Feature(6)592..681
Misc Feature(7)640..783
Misc Feature(8)790..942
Misc Feature(9)955..1098
Misc Feature(10)1108..1248
Exon (1)1..196
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (2)197..322
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (3)323..415
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (4)416..478
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (5)479..637
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (6)638..787
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (7)788..946
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (8)947..1102
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (9)1103..1227
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (10)1228..1413
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (11)1414..1582
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (12)1583..1674
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (13)1675..1740
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (14)1741..1921
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Exon (15)1922..4718
Gene:RPGR
Gene Synonym:COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
Translation MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFG SNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLG LGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNV CVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSE IPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYI SCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCH MVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTK EAEIDNSSTVESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTE NDDSDEYEEMSEMKEGKACKQHVSQGIFMTQPATTIEAFSDEEVEIPEEKEGAEDSKGNG IEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAEVSEGKAKSVGEAEDGPEGRGDGTCE EGSSGAEHWQDEEREKGEKDKGRGEMERPGEGEKELAEKEEWKKRDGEEQEQKEREQGHQ KERNQEMEEGGEEEHGEGEEEEGDREEEEEKEGEGKEEGEGEEVEGEREKEEGERKKEER AGKEEKGEEEGDQGEGEEEETEGRGEEKEEGGEVEGGEVEEGKGEREEEEEEGEGEEEEG EGEEEEGEGEEEEGEGKGEEEGEEGEGEEEGEEGEGEGEEEEGEGEGEEEGEGEGEEEEG EGEGEEEGEGEGEEEEGEGKGEEEGEEGEGEGEEEEGEGEGEDGEGEGEEEEGEWEGEEE EGEGEGEEEGEGEGEEGEGEGEEEEGEGEGEEEEGEEEGEEEGEGEEEGEGEGEEEEEGE VEGEVEGEEGEGEGEEEEGEEEGEEREKEGEGEENRRNREEEEEEEGKYQETGEEENERQ DGEEYKKVSKIKGSVKYGKHKTYQKKSVTNTQGNGKEQRSKMPVQSKRLLKNGPSGSKKF WNNVLPHYLELK
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Position Chain Variation Link
complement(22)-dbSNP:
complement(22)-g, adbSNP:372175632
complement(88)-g, cdbSNP:111635026
complement(117)-t, gdbSNP:147711382
complement(123)-g, cdbSNP:12835565
complement(148)-t, cdbSNP:368132110
complement(198)-dbSNP:
complement(198)-t, adbSNP:202156474
complement(200)-g, adbSNP:143975950
265+, adbSNP:281865295
complement(273)-t, adbSNP:193018400
274+g, tdbSNP:62638628
295+a, gdbSNP:62638629
296+a, gdbSNP:62638630
309+g, tdbSNP:62638631
complement(321)-g, adbSNP:201242851
322+g, tdbSNP:281865296
347+dbSNP:
347+g, tdbSNP:62638634
complement(390)-g, adbSNP:143521661
complement(391)-t, cdbSNP:111631988
395+g, tdbSNP:1801685
405..406+, atdbSNP:62650215
complement(428)-dbSNP:
complement(428)-, tdbSNP:36043846
462+a, cdbSNP:62638636
463..464+, cadbSNP:62638638
464+a, cdbSNP:62638637
523+dbSNP:
523+, tdbSNP:62638641
539+, cdbSNP:62638642
547+a, gdbSNP:62638643
557+g, tdbSNP:62638644
complement(582)-g, adbSNP:376887697
583+g, tdbSNP:62638645
complement(589)-t, cdbSNP:146920569
complement(639)-dbSNP:
complement(639)-t, cdbSNP:201702850
650..651+, ttdbSNP:281865298
650+, tdbSNP:281865297
660+a, gdbSNP:62638648
complement(673)-t, c, adbSNP:369037463
685+c, gdbSNP:137852550
complement(720)-c, adbSNP:5963403
749+a, gdbSNP:62650216
complement(753)-t, gdbSNP:376866035
773+a, cdbSNP:62650217
complement(777)-g, adbSNP:371899162
812+dbSNP:
812+g, tdbSNP:62650218
complement(841)-g, adbSNP:150477878
complement(858)-t, gdbSNP:370173004
871+c, tdbSNP:62638651
874+c, tdbSNP:62638652
898+a, tdbSNP:62638653
900+a, gdbSNP:62638654
915+, cdbSNP:62650219
916+c, tdbSNP:62650220
918..919+, tgdbSNP:281865299
complement(953)-dbSNP:
complement(953)-g, cdbSNP:138018739
974+a, gdbSNP:398123336
991+a, gdbSNP:62642057
1001..1004+, ctttdbSNP:62640584
1002..1003+, ttdbSNP:281865300
1002+, tdbSNP:62640586
1033+a, gdbSNP:62640587
1037+, adbSNP:62640588
1054..1068+, acaataagttatattdbSNP:62653026
complement(1055)-g, adbSNP:41309615
complement(1067)-g, adbSNP:111883266
1072+c, tdbSNP:62640589
1073+a, c, gdbSNP:62640590
1099+a, gdbSNP:62640591
complement(1107)-dbSNP:
complement(1107)-g, adbSNP:369916698
1126+a, gdbSNP:62640593
1148+g, tdbSNP:62640594
1162+g, tdbSNP:62642058
complement(1170)-g, adbSNP:200413654
complement(1201)-t, cdbSNP:41305223
complement(1209)-g, cdbSNP:144187092
complement(1249)-dbSNP:
complement(1249)-t, cdbSNP:372028552
1256..1257+, tdbSNP:281865301
complement(1266)-g, adbSNP:369391462
1267+, cdbSNP:62635000
1288+g, tdbSNP:62635001
complement(1299)-g, adbSNP:17852968
complement(1328)-g, adbSNP:148501922
complement(1331)-g, adbSNP:199661899
1332+a, gdbSNP:1801686
complement(1343)-g, adbSNP:372004762
complement(1344)-t, g, cdbSNP:149742786
complement(1372)-g, adbSNP:368494625
complement(1400)-t, cdbSNP:139594653
complement(1408)-g, cdbSNP:150549982
1412..1413+, agdbSNP:281865302
complement(1412)-c, adbSNP:143536063
1429..1447+dbSNP:
1429..1447+, tctttttcaatgaggagaadbSNP:281865303
1442+a, gdbSNP:1801687
complement(1450)-g, cdbSNP:182345461
1459+a, g, tdbSNP:62635003
complement(1464)-t, adbSNP:28718831
1475+a, gdbSNP:62635004
complement(1535)-t, cdbSNP:144635565
complement(1539)-g, cdbSNP:371226433
1544..1545+, tcdbSNP:62653029
1570..1573+, ccagdbSNP:62653030
complement(1611)-dbSNP:
complement(1611)-t, gdbSNP:144863059
complement(1634)-g, adbSNP:149417653
1644+, cdbSNP:62635005
1646+a, tdbSNP:62635006
complement(1668)-t, gdbSNP:375014257
1676..1677+dbSNP:
1676..1677+, cadbSNP:281865304
complement(1676)-g, cdbSNP:374555833
1743..1746+dbSNP:
1743..1746+, acaadbSNP:281865305
1744..1746+, caadbSNP:62653033
1747..1749+, caadbSNP:398123335
complement(1758)-t, cdbSNP:375288851
complement(1766)-g, adbSNP:41312104
complement(1767)-t, cdbSNP:368883287
complement(1776)-t, adbSNP:145089607
complement(1855)-t, cdbSNP:148334278
complement(1857)-c, adbSNP:183675735
1865+a, gdbSNP:1801688
complement(1877)-g, adbSNP:202154504
complement(1878)-t, cdbSNP:138347728
complement(1889)-g, adbSNP:202013664
complement(1890)-t, cdbSNP:372171763
complement(1896)-g, adbSNP:145682975
1915+g, tdbSNP:62635013
2000..2001+dbSNP:
2000..2001+, adbSNP:62635014
complement(2015)-t, cdbSNP:184789544
complement(2034)-t, cdbSNP:201069691
complement(2036)-g, adbSNP:140467410
complement(2089)-c, adbSNP:371422457
complement(2114)-t, adbSNP:367882990
complement(2150)-t, cdbSNP:374039361
complement(2223)-t, cdbSNP:370892592
complement(2225)-t, adbSNP:151247357
complement(2262)-c, adbSNP:377524122
complement(2266)-g, cdbSNP:373790368
complement(2312)-t, cdbSNP:142222599
complement(2388)-t, cdbSNP:149101436
complement(2391)-t, cdbSNP:147619484
complement(2425)-t, cdbSNP:267606453
complement(2502..2504)-, tccdbSNP:201730068
complement(2509)-t, cdbSNP:5917557
complement(2509)-g, adbSNP:111154989
complement(2510)-g, adbSNP:368235489
complement(2511)-t, cdbSNP:139643783
2573..2574+, agdbSNP:398122960
complement(2579)-t, cdbSNP:147388235
complement(2632)-t, cdbSNP:375806829
complement(2774..2788)-, cttcctccccttcttdbSNP:200824587
complement(2774)-t, cdbSNP:201131185
complement(2802)-t, cdbSNP:371230592
2818+g, tdbSNP:137852549
complement(2835..2837)-, tccdbSNP:199663434
complement(2949)-t, adbSNP:192410099
complement(2976)-t, adbSNP:187844918
complement(2997)-t, adbSNP:201655057
3015..3016+ag, ctdbSNP:267607019
complement(3047)-t, cdbSNP:111221005
complement(3075)-t, adbSNP:201247231
3097+g, tdbSNP:137852551
complement(3219..3221)-, tccdbSNP:200955614
complement(3228..3239)-, tccccttccactdbSNP:199896738
complement(3230)-t, adbSNP:144299434
complement(3240)-t, cdbSNP:373542041
complement(3242..3253)-, cctccccttccadbSNP:201134185
complement(3242..3244)-, ccadbSNP:202048304
complement(3284..3286)-, ctcdbSNP:200211905
complement(3334)-t, adbSNP:141583035
complement(3387)-g, adbSNP:111787313
3399+a, tdbSNP:62636730
complement(3432)-t, cdbSNP:78736275
complement(3516)-t, cdbSNP:138405457
complement(3519)-g, cdbSNP:199691696
complement(3535)-g, adbSNP:200556302
complement(3539)-t, adbSNP:201671932
complement(3564)-g, adbSNP:12687163
complement(3570)-t, gdbSNP:199602213
complement(3575)-t, cdbSNP:150960964
complement(3598)-t, cdbSNP:12688514
complement(3598)-g, adbSNP:386525640
complement(3647)-t, cdbSNP:376964154
complement(3699)-t, cdbSNP:139467624
complement(3743)-, tdbSNP:397895009
complement(3752)-, tdbSNP:35637775
complement(3788)-t, cdbSNP:190788513
complement(3811)-t, cdbSNP:147363795
complement(3819)-g, cdbSNP:376714176
complement(3855)-t, adbSNP:371002358
complement(3860)-t, gdbSNP:79675956
complement(4097)-t, cdbSNP:5963392
complement(4168)-t, cdbSNP:144832227
complement(4250)-t, cdbSNP:186269331
complement(4263)-c, adbSNP:182953211
complement(4348)-t, cdbSNP:149408606
complement(4355)-g, adbSNP:55711031
complement(4504)-t, adbSNP:191558770
complement(4613)-t, cdbSNP:185996057
Gene SymbolRPGR
Gene SynonymCOD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; XLRP3
ChromosomeX
Locus MapXp21.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001034853 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA. On-demand TBD TBD
NM_000328 Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA. On-demand $899.00 20
XM_006724538 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X2, mRNA. On-demand $1699.00 25
XM_005272633 PREDICTED: Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant X1, mRNA. On-demand $849.00 20
Title Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations .
Author Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR and Jayasundera T.
Journal JAMA Ophthalmol 131 (8), 1016-1025 (2013)
Title The interplay between RPGR, PDEdelta and Arl2/3 regulate the ciliary targeting of farnesylated cargo .
Author Watzlich D, Vetter I, Gotthardt K, Miertzschke M, Chen YX, Wittinghofer A and Ismail S.
Journal EMBO Rep. 14 (5), 465-472 (2013)
Title RPGR mutations might cause reduced orientation of respiratory cilia .
Author Bukowy-Bieryllo Z, Zietkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H and Witt M.
Journal Pediatr. Pulmonol. 48 (4), 352-363 (2013)
Title Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa .
Author Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR and Daiger SP.
Journal Invest. Ophthalmol. Vis. Sci. 54 (2), 1411-1416 (2013)
Title Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease .
Author Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR and Swaroop A.
Journal Invest. Ophthalmol. Vis. Sci. 53 (13), 8232-8237 (2012)
Title Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 .
Author Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP and Berger W.
Journal Hum. Mol. Genet. 5 (7), 1035-1041 (1996)
Title A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) .
Author Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T and Wright A.
Journal Nat. Genet. 13 (1), 35-42 (1996)
Title X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11 .
Author McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR and Daiger SP.
Journal Am. J. Hum. Genet. 57 (1), 87-94 (1995)
Title Retinitis Pigmentosa Overview .
Author Fahim,A.T., Daiger,S.P. and Weleber,R.G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests .
Author Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Frey D and Gal A.
Journal Proc. Natl. Acad. Sci. U.S.A. 87 (2), 701-704 (1990)

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