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Protein

X-linked retinitis pigmentosa GTPase regulator

Gene

RPGR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. 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 (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia.By similarity1 Publication

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • intracellular protein transport Source: ProtInc
  • intraciliary transport Source: UniProtKB
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Keywords - Biological processi

Cilium biogenesis/degradation, Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
X-linked retinitis pigmentosa GTPase regulator
Gene namesi
Name:RPGR
Synonyms:RP3, XLRP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:10295. RPGR.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • photoreceptor outer segment Source: UniProtKB
  • sperm flagellum Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 3 (RP3)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
See also OMIM:300029
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431G → E in RP3. 1 Publication
Corresponds to variant rs62638630 [ dbSNP | Ensembl ].
VAR_018057
Natural varianti43 – 431G → R in RP3. 1 Publication
Corresponds to variant rs62638629 [ dbSNP | Ensembl ].
VAR_018058
Natural varianti60 – 601G → V in RP3. 3 Publications
Corresponds to variant rs62638634 [ dbSNP | Ensembl ].
VAR_008501
Natural varianti75 – 751I → V in RP3; unknown pathological significance. 1 Publication
Corresponds to variant rs111631988 [ dbSNP | Ensembl ].
VAR_008503
Natural varianti98 – 981H → Q in RP3; reduces interaction with PDE6D. 3 Publications
Corresponds to variant rs62638636 [ dbSNP | Ensembl ].
VAR_008504
Natural varianti99 – 991T → N in RP3. 1 Publication
Corresponds to variant rs62638637 [ dbSNP | Ensembl ].
VAR_013625
Natural varianti127 – 1271R → G in RP3. 2 Publications
Corresponds to variant rs62638643 [ dbSNP | Ensembl ].
VAR_018059
Natural varianti130 – 1301F → C in RP3; reduces interaction with PDE6D. 2 Publications
Corresponds to variant rs62638644 [ dbSNP | Ensembl ].
VAR_006850
Natural varianti152 – 1521S → L in RP3. 1 Publication
VAR_025949
Natural varianti173 – 1731G → R in RP3 and RPDSI. 2 Publications
Corresponds to variant rs137852550 [ dbSNP | Ensembl ].
VAR_018060
Natural varianti215 – 2151G → V in RP3; reduces interaction with PDE6D. 3 Publications
Corresponds to variant rs62650218 [ dbSNP | Ensembl ].
VAR_008505
Natural varianti235 – 2351P → S in RP3; reduces interaction with PDE6D. 2 Publications
Corresponds to variant rs62638651 [ dbSNP | Ensembl ].
VAR_006851
Natural varianti250 – 2501C → R in RP3; reduces interaction with PDE6D. 3 Publications
Corresponds to variant rs62650220 [ dbSNP | Ensembl ].
VAR_008506
Natural varianti250 – 2501C → Y in RP3. 1 Publication
VAR_018061
Natural varianti258 – 2581Missing in RP3. 1 Publication
VAR_018062
Natural varianti262 – 2621A → G in RP3; unknown pathological significance. 1 Publication
Corresponds to variant rs138018739 [ dbSNP | Ensembl ].
VAR_008507
Natural varianti267 – 2671G → E in RP3.
VAR_018063
Natural varianti267 – 2671G → R in RP3. 1 Publication
VAR_026127
Natural varianti275 – 2751G → S in RP3; reduces interaction with PDE6D. 2 Publications
Corresponds to variant rs62642057 [ dbSNP | Ensembl ].
VAR_006852
Natural varianti285 – 2851E → G in RP3. 1 Publication
VAR_026128
Natural varianti289 – 2891I → V in RP3. 1 Publication
Corresponds to variant rs62640587 [ dbSNP | Ensembl ].
VAR_013626
Natural varianti296 – 3005Missing in RP3. 1 Publication
VAR_013627
Natural varianti302 – 3021C → R in RP3. 1 Publication
Corresponds to variant rs62640589 [ dbSNP | Ensembl ].
VAR_011561
Natural varianti302 – 3021C → Y in RP3. 1 Publication
Corresponds to variant rs62640590 [ dbSNP | Ensembl ].
VAR_018064
Natural varianti312 – 3121D → N in RP3. 1 Publication
VAR_018065
Natural varianti312 – 3121D → Y in RP3. 1 Publication
VAR_018066
Natural varianti320 – 3201G → R in RP3; impairs protein folding. 2 Publications
Corresponds to variant rs62640593 [ dbSNP | Ensembl ].
VAR_018067
Natural varianti436 – 4361G → D in RP3. 3 Publications
Corresponds to variant rs62635004 [ dbSNP | Ensembl ].
VAR_008510
Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by the association primary ciliary dyskinesia features with retinitis pigmentosa. Some patients also manifest deafness.
See also OMIM:300455
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti173 – 1731G → R in RP3 and RPDSI. 2 Publications
Corresponds to variant rs137852550 [ dbSNP | Ensembl ].
VAR_018060
Cone-rod dystrophy, X-linked 1 (CORDX1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms.
See also OMIM:304020
Macular degeneration, X-linked, atrophic (MDXLA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.
See also OMIM:300834

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi36 – 361V → F: Does not reduce interaction with PDE6D. 1 Publication
Mutagenesisi323 – 3231R → E: Abolishes interaction with RPGRIP1. 1 Publication

Keywords - Diseasei

Ciliopathy, Cone-rod dystrophy, Deafness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

MalaCardsiRPGR.
MIMi300029. phenotype.
300455. phenotype.
300834. phenotype.
304020. phenotype.
Orphaneti49382. Achromatopsia.
1872. Cone rod dystrophy.
244. Primary ciliary dyskinesia.
247522. Primary ciliary dyskinesia - retinitis pigmentosa.
791. Retinitis pigmentosa.
PharmGKBiPA34656.

Polymorphism and mutation databases

BioMutaiRPGR.
DMDMi23503098.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10171017X-linked retinitis pigmentosa GTPase regulatorPRO_0000206638Add
BLAST
Propeptidei1018 – 10203Removed in mature formSequence analysisPRO_0000370844

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei418 – 4181PhosphoserineCombined sources
Modified residuei518 – 5181PhosphoserineCombined sources
Modified residuei1017 – 10171Cysteine methyl esterSequence analysis
Lipidationi1017 – 10171S-geranylgeranyl cysteineSequence analysis

Post-translational modificationi

Prenylated.By similarity

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ92834.
MaxQBiQ92834.
PaxDbiQ92834.
PeptideAtlasiQ92834.
PRIDEiQ92834.

PTM databases

iPTMnetiQ92834.
PhosphoSiteiQ92834.

Expressioni

Tissue specificityi

Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments.1 Publication

Gene expression databases

BgeeiENSG00000156313.
CleanExiHS_RPGR.
ExpressionAtlasiQ92834. baseline and differential.
GenevisibleiQ92834. HS.

Organism-specific databases

HPAiHPA001593.

Interactioni

Subunit structurei

Interacts with CEP290 (By similarity). Interacts with DFNB31 (By similarity). Interacts with PDE6D, RPGRIP1 and RPGRIP1L; PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites(PubMed:24981858). Isoform 6 interacts with NPM1 (via C-terminus) (PubMed:15772089). Isoform 6 interacts with SMC1A and SMC3 (PubMed:16043481).By similarity7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PDE6DO439249EBI-6558417,EBI-712685
Pde6dO550573EBI-6558417,EBI-6558402From a different organism.
RPGRIP1Q96KN76EBI-6558417,EBI-1050213

Protein-protein interaction databases

BioGridi112030. 37 interactions.
IntActiQ92834. 25 interactions.
STRINGi9606.ENSP00000367766.

Structurei

Secondary structure

1
1020
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi13 – 208Combined sources
Helixi23 – 253Combined sources
Beta strandi26 – 305Combined sources
Beta strandi37 – 426Combined sources
Beta strandi44 – 518Combined sources
Beta strandi56 – 616Combined sources
Beta strandi69 – 713Combined sources
Beta strandi73 – 808Combined sources
Helixi82 – 843Combined sources
Beta strandi89 – 946Combined sources
Beta strandi96 – 1038Combined sources
Beta strandi108 – 1125Combined sources
Beta strandi121 – 1233Combined sources
Beta strandi127 – 1326Combined sources
Beta strandi142 – 1476Combined sources
Beta strandi149 – 1568Combined sources
Beta strandi161 – 1666Combined sources
Beta strandi179 – 1857Combined sources
Beta strandi188 – 1903Combined sources
Beta strandi192 – 1976Combined sources
Beta strandi199 – 2068Combined sources
Beta strandi211 – 2155Combined sources
Turni219 – 2224Combined sources
Helixi226 – 2316Combined sources
Beta strandi245 – 2506Combined sources
Beta strandi252 – 26110Combined sources
Beta strandi263 – 2686Combined sources
Beta strandi282 – 2887Combined sources
Turni291 – 2944Combined sources
Beta strandi297 – 3026Combined sources
Beta strandi304 – 3118Combined sources
Beta strandi316 – 3205Combined sources
Helixi323 – 3253Combined sources
Beta strandi337 – 3426Combined sources
Helixi344 – 3463Combined sources
Beta strandi349 – 3568Combined sources
Beta strandi358 – 36710Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4JHNX-ray1.70A/B/C/D1-392[»]
4JHPX-ray1.90C7-368[»]
4QAMX-ray1.83A1-392[»]
ProteinModelPortaliQ92834.
SMRiQ92834. Positions 6-369.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati54 – 10552RCC1 1Add
BLAST
Repeati106 – 15853RCC1 2Add
BLAST
Repeati159 – 20850RCC1 3Add
BLAST
Repeati209 – 26153RCC1 4Add
BLAST
Repeati262 – 31352RCC1 5Add
BLAST
Repeati314 – 36754RCC1 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi530 – 903374Glu-richAdd
BLAST

Domaini

The RCC1 repeat region mediates interactions with RPGRIP1.1 Publication

Sequence similaritiesi

Contains 6 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00840000129719.
HOGENOMiHOG000231314.
HOVERGENiHBG026899.
InParanoidiQ92834.
KOiK19607.
OMAiKMPVQSK.
OrthoDBiEOG091G08E2.
PhylomeDBiQ92834.
TreeFamiTF331400.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR032994. RPGR.
[Graphical view]
PANTHERiPTHR22870:SF211. PTHR22870:SF211. 1 hit.
PfamiPF00415. RCC1. 6 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SUPFAMiSSF50985. SSF50985. 1 hit.
PROSITEiPS00626. RCC1_2. 4 hits.
PS50012. RCC1_3. 6 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q92834-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MREPEELMPD SGAVFTFGKS KFAENNPGKF WFKNDVPVHL SCGDEHSAVV
60 70 80 90 100
TGNNKLYMFG SNNWGQLGLG SKSAISKPTC VKALKPEKVK LAACGRNHTL
110 120 130 140 150
VSTEGGNVYA TGGNNEGQLG LGDTEERNTF HVISFFTSEH KIKQLSAGSN
160 170 180 190 200
TSAALTEDGR LFMWGDNSEG QIGLKNVSNV CVPQQVTIGK PVSWISCGYY
210 220 230 240 250
HSAFVTTDGE LYVFGEPENG KLGLPNQLLG NHRTPQLVSE IPEKVIQVAC
260 270 280 290 300
GGEHTVVLTE NAVYTFGLGQ FGQLGLGTFL FETSEPKVIE NIRDQTISYI
310 320 330 340 350
SCGENHTALI TDIGLMYTFG DGRHGKLGLG LENFTNHFIP TLCSNFLRFI
360 370 380 390 400
VKLVACGGCH MVVFAAPHRG VAKEIEFDEI NDTCLSVATF LPYSSLTSGN
410 420 430 440 450
VLQRTLSARM RRRERERSPD SFSMRRTLPP IEGTLGLSAC FLPNSVFPRC
460 470 480 490 500
SERNLQESVL SEQDLMQPEE PDYLLDEMTK EAEIDNSSTV ESLGETTDIL
510 520 530 540 550
NMTHIMSLNS NEKSLKLSPV QKQKKQQTIG ELTQDTALTE NDDSDEYEEM
560 570 580 590 600
SEMKEGKACK QHVSQGIFMT QPATTIEAFS DEEVGNDTGQ VGPQADTDGE
610 620 630 640 650
GLQKEVYRHE NNNGVDQLDA KEIEKESDGG HSQKESEAEE IDSEKETKLA
660 670 680 690 700
EIAGMKDLRE REKSTKKMSP FFGNLPDRGM NTESEENKDF VKKRESCKQD
710 720 730 740 750
VIFDSERESV EKPDSYMEGA SESQQGIADG FQQPEAIEFS SGEKEDDEVE
760 770 780 790 800
TDQNIRYGRK LIEQGNEKET KPIISKSMAK YDFKCDRLSE IPEEKEGAED
810 820 830 840 850
SKGNGIEEQE VEANEENVKV HGGRKEKTEI LSDDLTDKAE DHEFSKTEEL
860 870 880 890 900
KLEDVDEEIN AENVESKKKT VGDDESVPTG YHSKTEGAER TNDDSSAETI
910 920 930 940 950
EKKEKANLEE RAICEYNENP KGYMLDDADS SSLEILENSE TTPSKDMKKT
960 970 980 990 1000
KKIFLFKRVP SINQKIVKNN NEPLPEIKSI GDQIILKSDN KDADQNHMSQ
1010 1020
NHQNIPPTNT ERRSKSCTIL
Length:1,020
Mass (Da):113,387
Last modified:September 19, 2002 - v2
Checksum:iEAB16275A9A436C3
GO
Isoform 2 (identifier: Q92834-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     585-789: Missing.

Show »
Length:815
Mass (Da):90,245
Checksum:i70D84EAD988348D1
GO
Isoform 3 (identifier: Q92834-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     585-789: Missing.
     841-851: DHEFSKTEELK → YSASHSQIVSV
     852-1020: Missing.

Show »
Length:646
Mass (Da):70,981
Checksum:iBE8E98184F0404A6
GO
Isoform 4 (identifier: Q92834-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     354-415: Missing.
     585-789: Missing.

Show »
Length:753
Mass (Da):83,394
Checksum:iA84202BD00B84930
GO
Isoform 5 (identifier: Q92834-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     473-480: YLLDEMTK → THHEPEFQ
     481-1020: Missing.

Note: No experimental confirmation available.
Show »
Length:480
Mass (Da):52,628
Checksum:i6766EA259A232631
GO
Isoform 6 (identifier: Q92834-6) [UniParc]FASTAAdd to basket
Also known as: ORF15

The sequence of this isoform differs from the canonical sequence as follows:
     585-1020: GNDTGQVGPQ...ERRSKSCTIL → EIPEEKEGAE...NVLPHYLELK

Show »
Length:1,152
Mass (Da):127,042
Checksum:i9A07A64016D8C01A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 33MRE → MAKLRRSTTTAL in CAB54002 (PubMed:10401007).Curated
Sequence conflicti190 – 1901K → N in CAC86116 (PubMed:10401007).Curated
Isoform 6 (identifier: Q92834-6)
Sequence conflicti1144 – 11441V → I in DAA05713 (PubMed:15772089).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431G → E in RP3. 1 Publication
Corresponds to variant rs62638630 [ dbSNP | Ensembl ].
VAR_018057
Natural varianti43 – 431G → R in RP3. 1 Publication
Corresponds to variant rs62638629 [ dbSNP | Ensembl ].
VAR_018058
Natural varianti60 – 601G → V in RP3. 3 Publications
Corresponds to variant rs62638634 [ dbSNP | Ensembl ].
VAR_008501
Natural varianti75 – 751I → V in RP3; unknown pathological significance. 1 Publication
Corresponds to variant rs111631988 [ dbSNP | Ensembl ].
VAR_008503
Natural varianti76 – 761S → I.1 Publication
Corresponds to variant rs1801685 [ dbSNP | Ensembl ].
VAR_013624
Natural varianti98 – 981H → Q in RP3; reduces interaction with PDE6D. 3 Publications
Corresponds to variant rs62638636 [ dbSNP | Ensembl ].
VAR_008504
Natural varianti99 – 991T → N in RP3. 1 Publication
Corresponds to variant rs62638637 [ dbSNP | Ensembl ].
VAR_013625
Natural varianti127 – 1271R → G in RP3. 2 Publications
Corresponds to variant rs62638643 [ dbSNP | Ensembl ].
VAR_018059
Natural varianti130 – 1301F → C in RP3; reduces interaction with PDE6D. 2 Publications
Corresponds to variant rs62638644 [ dbSNP | Ensembl ].
VAR_006850
Natural varianti152 – 1521S → L in RP3. 1 Publication
VAR_025949
Natural varianti173 – 1731G → R in RP3 and RPDSI. 2 Publications
Corresponds to variant rs137852550 [ dbSNP | Ensembl ].
VAR_018060
Natural varianti184 – 1841Q → H.
Corresponds to variant rs5963403 [ dbSNP | Ensembl ].
VAR_033259
Natural varianti215 – 2151G → V in RP3; reduces interaction with PDE6D. 3 Publications
Corresponds to variant rs62650218 [ dbSNP | Ensembl ].
VAR_008505
Natural varianti235 – 2351P → S in RP3; reduces interaction with PDE6D. 2 Publications
Corresponds to variant rs62638651 [ dbSNP | Ensembl ].
VAR_006851
Natural varianti250 – 2501C → R in RP3; reduces interaction with PDE6D. 3 Publications
Corresponds to variant rs62650220 [ dbSNP | Ensembl ].
VAR_008506
Natural varianti250 – 2501C → Y in RP3. 1 Publication
VAR_018061
Natural varianti258 – 2581Missing in RP3. 1 Publication
VAR_018062
Natural varianti262 – 2621A → G in RP3; unknown pathological significance. 1 Publication
Corresponds to variant rs138018739 [ dbSNP | Ensembl ].
VAR_008507
Natural varianti267 – 2671G → E in RP3.
VAR_018063
Natural varianti267 – 2671G → R in RP3. 1 Publication
VAR_026127
Natural varianti275 – 2751G → S in RP3; reduces interaction with PDE6D. 2 Publications
Corresponds to variant rs62642057 [ dbSNP | Ensembl ].
VAR_006852
Natural varianti285 – 2851E → G in RP3. 1 Publication
VAR_026128
Natural varianti289 – 2891I → V in RP3. 1 Publication
Corresponds to variant rs62640587 [ dbSNP | Ensembl ].
VAR_013626
Natural varianti296 – 3005Missing in RP3. 1 Publication
VAR_013627
Natural varianti302 – 3021C → R in RP3. 1 Publication
Corresponds to variant rs62640589 [ dbSNP | Ensembl ].
VAR_011561
Natural varianti302 – 3021C → Y in RP3. 1 Publication
Corresponds to variant rs62640590 [ dbSNP | Ensembl ].
VAR_018064
Natural varianti312 – 3121D → N in RP3. 1 Publication
VAR_018065
Natural varianti312 – 3121D → Y in RP3. 1 Publication
VAR_018066
Natural varianti320 – 3201G → R in RP3; impairs protein folding. 2 Publications
Corresponds to variant rs62640593 [ dbSNP | Ensembl ].
VAR_018067
Natural varianti345 – 3451N → D Rare polymorphism. 2 Publications
Corresponds to variant rs41305223 [ dbSNP | Ensembl ].
VAR_018068
Natural varianti425 – 4251R → K.4 Publications
Corresponds to variant rs1801687 [ dbSNP | Ensembl ].
VAR_008508
Natural varianti431 – 4311I → V.2 Publications
Corresponds to variant rs62635003 [ dbSNP | Ensembl ].
VAR_008509
Natural varianti436 – 4361G → D in RP3. 3 Publications
Corresponds to variant rs62635004 [ dbSNP | Ensembl ].
VAR_008510
Natural varianti526 – 5261Missing .1 Publication
VAR_011562
Natural varianti533 – 5331T → M.1 Publication
Corresponds to variant rs41312104 [ dbSNP | Ensembl ].
VAR_011563
Natural varianti566 – 5661G → E.4 Publications
Corresponds to variant rs1801688 [ dbSNP | Ensembl ].
VAR_008511

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei354 – 41562Missing in isoform 4. 1 PublicationVSP_005547Add
BLAST
Alternative sequencei473 – 4808YLLDEMTK → THHEPEFQ in isoform 5. 1 PublicationVSP_009183
Alternative sequencei481 – 1020540Missing in isoform 5. 1 PublicationVSP_009184Add
BLAST
Alternative sequencei585 – 1020436GNDTG…SCTIL → EIPEEKEGAEDSKGNGIEEQ EVEANEENVKVHGGRKEKTE ILSDDLTDKAEVSEGKAKSV GEAEDGPEGRGDGTCEEGSS GAEHWQDEEREKGEKDKGRG EMERPGEGEKELAEKEEWKK RDGEEQEQKEREQGHQKERN QEMEEGGEEEHGEGEEEEGD REEEEEKEGEGKEEGEGEEV EGEREKEEGERKKEERAGKE EKGEEEGDQGEGEEEETEGR GEEKEEGGEVEGGEVEEGKG EREEEEEEGEGEEEEGEGEE EEGEGEEEEGEGKGEEEGEE GEGEEEGEEGEGEGEEEEGE GEGEEEGEGEGEEEEGEGEG EEEGEGEGEEEEGEGKGEEE GEEGEGEGEEEEGEGEGEDG EGEGEEEEGEWEGEEEEGEG EGEEEGEGEGEEGEGEGEEE EGEGEGEEEEGEEEGEEEGE GEEEGEGEGEEEEEGEVEGE VEGEEGEGEGEEEEGEEEGE EREKEGEGEENRRNREEEEE EEGKYQETGEEENERQDGEE YKKVSKIKGSVKYGKHKTYQ KKSVTNTQGNGKEQRSKMPV QSKRLLKNGPSGSKKFWNNV LPHYLELK in isoform 6. CuratedVSP_044559Add
BLAST
Alternative sequencei585 – 789205Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_005548Add
BLAST
Alternative sequencei841 – 85111DHEFSKTEELK → YSASHSQIVSV in isoform 3. 1 PublicationVSP_005549Add
BLAST
Alternative sequencei852 – 1020169Missing in isoform 3. 1 PublicationVSP_005550Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57629 mRNA. Translation: AAC50481.1.
X97668 mRNA. Translation: CAA66258.1.
AJ238395 mRNA. Translation: CAB54002.1.
AJ318463 Genomic DNA. Translation: CAC86116.1.
AL606748 Genomic DNA. Translation: CAI95407.1.
CH471141 Genomic DNA. Translation: EAW59441.1.
BC031624 mRNA. Translation: AAH31624.1.
AF286471 Genomic DNA. Translation: AAG00550.1.
BK005711 mRNA. Translation: DAA05713.1.
CCDSiCCDS14246.1. [Q92834-2]
CCDS35229.1. [Q92834-6]
RefSeqiNP_000319.1. NM_000328.2. [Q92834-2]
NP_001030025.1. NM_001034853.1. [Q92834-6]
UniGeneiHs.61438.

Genome annotation databases

EnsembliENST00000318842; ENSP00000322219; ENSG00000156313. [Q92834-2]
ENST00000339363; ENSP00000343671; ENSG00000156313. [Q92834-1]
ENST00000378505; ENSP00000367766; ENSG00000156313. [Q92834-6]
ENST00000474584; ENSP00000418926; ENSG00000156313. [Q92834-5]
ENST00000482855; ENSP00000419276; ENSG00000156313. [Q92834-3]
GeneIDi6103.
KEGGihsa:6103.
UCSCiuc004deb.4. human. [Q92834-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RPGR gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U57629 mRNA. Translation: AAC50481.1.
X97668 mRNA. Translation: CAA66258.1.
AJ238395 mRNA. Translation: CAB54002.1.
AJ318463 Genomic DNA. Translation: CAC86116.1.
AL606748 Genomic DNA. Translation: CAI95407.1.
CH471141 Genomic DNA. Translation: EAW59441.1.
BC031624 mRNA. Translation: AAH31624.1.
AF286471 Genomic DNA. Translation: AAG00550.1.
BK005711 mRNA. Translation: DAA05713.1.
CCDSiCCDS14246.1. [Q92834-2]
CCDS35229.1. [Q92834-6]
RefSeqiNP_000319.1. NM_000328.2. [Q92834-2]
NP_001030025.1. NM_001034853.1. [Q92834-6]
UniGeneiHs.61438.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4JHNX-ray1.70A/B/C/D1-392[»]
4JHPX-ray1.90C7-368[»]
4QAMX-ray1.83A1-392[»]
ProteinModelPortaliQ92834.
SMRiQ92834. Positions 6-369.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112030. 37 interactions.
IntActiQ92834. 25 interactions.
STRINGi9606.ENSP00000367766.

PTM databases

iPTMnetiQ92834.
PhosphoSiteiQ92834.

Polymorphism and mutation databases

BioMutaiRPGR.
DMDMi23503098.

Proteomic databases

EPDiQ92834.
MaxQBiQ92834.
PaxDbiQ92834.
PeptideAtlasiQ92834.
PRIDEiQ92834.

Protocols and materials databases

DNASUi6103.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318842; ENSP00000322219; ENSG00000156313. [Q92834-2]
ENST00000339363; ENSP00000343671; ENSG00000156313. [Q92834-1]
ENST00000378505; ENSP00000367766; ENSG00000156313. [Q92834-6]
ENST00000474584; ENSP00000418926; ENSG00000156313. [Q92834-5]
ENST00000482855; ENSP00000419276; ENSG00000156313. [Q92834-3]
GeneIDi6103.
KEGGihsa:6103.
UCSCiuc004deb.4. human. [Q92834-1]

Organism-specific databases

CTDi6103.
GeneCardsiRPGR.
GeneReviewsiRPGR.
HGNCiHGNC:10295. RPGR.
HPAiHPA001593.
MalaCardsiRPGR.
MIMi300029. phenotype.
300455. phenotype.
300834. phenotype.
304020. phenotype.
312610. gene.
neXtProtiNX_Q92834.
Orphaneti49382. Achromatopsia.
1872. Cone rod dystrophy.
244. Primary ciliary dyskinesia.
247522. Primary ciliary dyskinesia - retinitis pigmentosa.
791. Retinitis pigmentosa.
PharmGKBiPA34656.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
GeneTreeiENSGT00840000129719.
HOGENOMiHOG000231314.
HOVERGENiHBG026899.
InParanoidiQ92834.
KOiK19607.
OMAiKMPVQSK.
OrthoDBiEOG091G08E2.
PhylomeDBiQ92834.
TreeFamiTF331400.

Miscellaneous databases

ChiTaRSiRPGR. human.
GeneWikiiRetinitis_pigmentosa_GTPase_regulator.
GenomeRNAii6103.
PROiQ92834.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156313.
CleanExiHS_RPGR.
ExpressionAtlasiQ92834. baseline and differential.
GenevisibleiQ92834. HS.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR032994. RPGR.
[Graphical view]
PANTHERiPTHR22870:SF211. PTHR22870:SF211. 1 hit.
PfamiPF00415. RCC1. 6 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SUPFAMiSSF50985. SSF50985. 1 hit.
PROSITEiPS00626. RCC1_2. 4 hits.
PS50012. RCC1_3. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRPGR_HUMAN
AccessioniPrimary (citable) accession number: Q92834
Secondary accession number(s): B1ARN3
, E9PE28, O00702, O00737, Q3KN84, Q8N5T6, Q93039, Q9HD29, Q9UMR1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 19, 2002
Last modified: September 7, 2016
This is version 175 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.