Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156313-MONOMER.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01805743G → E in RP3. 1 PublicationCorresponds to variant rs62638630dbSNPEnsembl.1
Natural variantiVAR_01805843G → R in RP3. 1 PublicationCorresponds to variant rs62638629dbSNPEnsembl.1
Natural variantiVAR_00850160G → V in RP3. 3 PublicationsCorresponds to variant rs62638634dbSNPEnsembl.1
Natural variantiVAR_00850375I → V in RP3; unknown pathological significance. 1 PublicationCorresponds to variant rs111631988dbSNPEnsembl.1
Natural variantiVAR_00850498H → Q in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant rs62638636dbSNPEnsembl.1
Natural variantiVAR_01362599T → N in RP3. 1 PublicationCorresponds to variant rs62638637dbSNPEnsembl.1
Natural variantiVAR_018059127R → G in RP3. 2 PublicationsCorresponds to variant rs62638643dbSNPEnsembl.1
Natural variantiVAR_006850130F → C in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant rs62638644dbSNPEnsembl.1
Natural variantiVAR_025949152S → L in RP3. 1 Publication1
Natural variantiVAR_018060173G → R in RP3 and RPDSI. 2 PublicationsCorresponds to variant rs137852550dbSNPEnsembl.1
Natural variantiVAR_008505215G → V in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant rs62650218dbSNPEnsembl.1
Natural variantiVAR_006851235P → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant rs62638651dbSNPEnsembl.1
Natural variantiVAR_008506250C → R in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant rs62650220dbSNPEnsembl.1
Natural variantiVAR_018061250C → Y in RP3. 1 Publication1
Natural variantiVAR_018062258Missing in RP3. 1 Publication1
Natural variantiVAR_008507262A → G in RP3; unknown pathological significance. 1 PublicationCorresponds to variant rs138018739dbSNPEnsembl.1
Natural variantiVAR_018063267G → E in RP3. 1
Natural variantiVAR_026127267G → R in RP3. 1 Publication1
Natural variantiVAR_006852275G → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant rs62642057dbSNPEnsembl.1
Natural variantiVAR_026128285E → G in RP3. 1 Publication1
Natural variantiVAR_013626289I → V in RP3. 1 PublicationCorresponds to variant rs62640587dbSNPEnsembl.1
Natural variantiVAR_013627296 – 300Missing in RP3. 1 Publication5
Natural variantiVAR_011561302C → R in RP3. 1 PublicationCorresponds to variant rs62640589dbSNPEnsembl.1
Natural variantiVAR_018064302C → Y in RP3. 1 PublicationCorresponds to variant rs62640590dbSNPEnsembl.1
Natural variantiVAR_018065312D → N in RP3. 1 Publication1
Natural variantiVAR_018066312D → Y in RP3. 1 Publication1
Natural variantiVAR_018067320G → R in RP3; impairs protein folding. 2 PublicationsCorresponds to variant rs62640593dbSNPEnsembl.1
Natural variantiVAR_008510436G → D in RP3. 3 PublicationsCorresponds to variant rs62635004dbSNPEnsembl.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_018060173G → R in RP3 and RPDSI. 2 PublicationsCorresponds to variant rs137852550dbSNPEnsembl.1
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)DescriptionActionsGraphical viewLength
Mutagenesisi36V → F: Does not reduce interaction with PDE6D. 1 Publication1
Mutagenesisi323R → E: Abolishes interaction with RPGRIP1. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi6103.
MalaCardsiRPGR.
MIMi300029. phenotype.
300455. phenotype.
300834. phenotype.
304020. phenotype.
OpenTargetsiENSG00000156313.
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)DescriptionActionsGraphical viewLength
ChainiPRO_00002066381 – 1017X-linked retinitis pigmentosa GTPase regulatorAdd BLAST1017
PropeptideiPRO_00003708441018 – 1020Removed in mature formSequence analysis3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei418PhosphoserineCombined sources1
Modified residuei518PhosphoserineCombined sources1
Modified residuei1017Cysteine methyl esterSequence analysis1
Lipidationi1017S-geranylgeranyl cysteineSequence analysis1

Post-translational modificationi

Prenylated.By similarity

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ92834.
MaxQBiQ92834.
PaxDbiQ92834.
PeptideAtlasiQ92834.
PRIDEiQ92834.

PTM databases

iPTMnetiQ92834.
PhosphoSitePlusiQ92834.

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 WHRN (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
NPHP4O751612EBI-6558417,EBI-4281852
PDE6DO439249EBI-6558417,EBI-712685
Pde6dO550573EBI-6558417,EBI-6558402From a different organism.
RPGRIP1Q96KN79EBI-6558417,EBI-1050213

Protein-protein interaction databases

BioGridi112030. 37 interactors.
IntActiQ92834. 29 interactors.
STRINGi9606.ENSP00000367766.

Structurei

Secondary structure

11020
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi13 – 20Combined sources8
Helixi23 – 25Combined sources3
Beta strandi26 – 30Combined sources5
Beta strandi37 – 42Combined sources6
Beta strandi44 – 51Combined sources8
Beta strandi56 – 61Combined sources6
Beta strandi69 – 71Combined sources3
Beta strandi73 – 80Combined sources8
Helixi82 – 84Combined sources3
Beta strandi89 – 94Combined sources6
Beta strandi96 – 103Combined sources8
Beta strandi108 – 112Combined sources5
Beta strandi121 – 123Combined sources3
Beta strandi127 – 132Combined sources6
Beta strandi142 – 147Combined sources6
Beta strandi149 – 156Combined sources8
Beta strandi161 – 166Combined sources6
Beta strandi179 – 185Combined sources7
Beta strandi188 – 190Combined sources3
Beta strandi192 – 197Combined sources6
Beta strandi199 – 206Combined sources8
Beta strandi211 – 215Combined sources5
Turni219 – 222Combined sources4
Helixi226 – 231Combined sources6
Beta strandi245 – 250Combined sources6
Beta strandi252 – 261Combined sources10
Beta strandi263 – 268Combined sources6
Beta strandi282 – 288Combined sources7
Turni291 – 294Combined sources4
Beta strandi297 – 302Combined sources6
Beta strandi304 – 311Combined sources8
Beta strandi316 – 320Combined sources5
Helixi323 – 325Combined sources3
Beta strandi337 – 342Combined sources6
Helixi344 – 346Combined sources3
Beta strandi349 – 356Combined sources8
Beta strandi358 – 367Combined sources10

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati54 – 105RCC1 1Add BLAST52
Repeati106 – 158RCC1 2Add BLAST53
Repeati159 – 208RCC1 3Add BLAST50
Repeati209 – 261RCC1 4Add BLAST53
Repeati262 – 313RCC1 5Add BLAST52
Repeati314 – 367RCC1 6Add BLAST54

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi530 – 903Glu-richAdd BLAST374

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.
GeneTreeiENSGT00860000133726.
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)DescriptionActionsGraphical viewLength
Sequence conflicti1 – 3MRE → MAKLRRSTTTAL in CAB54002 (PubMed:10401007).Curated3
Sequence conflicti190K → N in CAC86116 (PubMed:10401007).Curated1
Isoform 6 (identifier: Q92834-6)
Sequence conflicti1144V → I in DAA05713 (PubMed:15772089).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01805743G → E in RP3. 1 PublicationCorresponds to variant rs62638630dbSNPEnsembl.1
Natural variantiVAR_01805843G → R in RP3. 1 PublicationCorresponds to variant rs62638629dbSNPEnsembl.1
Natural variantiVAR_00850160G → V in RP3. 3 PublicationsCorresponds to variant rs62638634dbSNPEnsembl.1
Natural variantiVAR_00850375I → V in RP3; unknown pathological significance. 1 PublicationCorresponds to variant rs111631988dbSNPEnsembl.1
Natural variantiVAR_01362476S → I.1 PublicationCorresponds to variant rs1801685dbSNPEnsembl.1
Natural variantiVAR_00850498H → Q in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant rs62638636dbSNPEnsembl.1
Natural variantiVAR_01362599T → N in RP3. 1 PublicationCorresponds to variant rs62638637dbSNPEnsembl.1
Natural variantiVAR_018059127R → G in RP3. 2 PublicationsCorresponds to variant rs62638643dbSNPEnsembl.1
Natural variantiVAR_006850130F → C in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant rs62638644dbSNPEnsembl.1
Natural variantiVAR_025949152S → L in RP3. 1 Publication1
Natural variantiVAR_018060173G → R in RP3 and RPDSI. 2 PublicationsCorresponds to variant rs137852550dbSNPEnsembl.1
Natural variantiVAR_033259184Q → H.Corresponds to variant rs5963403dbSNPEnsembl.1
Natural variantiVAR_008505215G → V in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant rs62650218dbSNPEnsembl.1
Natural variantiVAR_006851235P → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant rs62638651dbSNPEnsembl.1
Natural variantiVAR_008506250C → R in RP3; reduces interaction with PDE6D. 3 PublicationsCorresponds to variant rs62650220dbSNPEnsembl.1
Natural variantiVAR_018061250C → Y in RP3. 1 Publication1
Natural variantiVAR_018062258Missing in RP3. 1 Publication1
Natural variantiVAR_008507262A → G in RP3; unknown pathological significance. 1 PublicationCorresponds to variant rs138018739dbSNPEnsembl.1
Natural variantiVAR_018063267G → E in RP3. 1
Natural variantiVAR_026127267G → R in RP3. 1 Publication1
Natural variantiVAR_006852275G → S in RP3; reduces interaction with PDE6D. 2 PublicationsCorresponds to variant rs62642057dbSNPEnsembl.1
Natural variantiVAR_026128285E → G in RP3. 1 Publication1
Natural variantiVAR_013626289I → V in RP3. 1 PublicationCorresponds to variant rs62640587dbSNPEnsembl.1
Natural variantiVAR_013627296 – 300Missing in RP3. 1 Publication5
Natural variantiVAR_011561302C → R in RP3. 1 PublicationCorresponds to variant rs62640589dbSNPEnsembl.1
Natural variantiVAR_018064302C → Y in RP3. 1 PublicationCorresponds to variant rs62640590dbSNPEnsembl.1
Natural variantiVAR_018065312D → N in RP3. 1 Publication1
Natural variantiVAR_018066312D → Y in RP3. 1 Publication1
Natural variantiVAR_018067320G → R in RP3; impairs protein folding. 2 PublicationsCorresponds to variant rs62640593dbSNPEnsembl.1
Natural variantiVAR_018068345N → D Rare polymorphism. 2 PublicationsCorresponds to variant rs41305223dbSNPEnsembl.1
Natural variantiVAR_008508425R → K.4 PublicationsCorresponds to variant rs1801687dbSNPEnsembl.1
Natural variantiVAR_008509431I → V.2 PublicationsCorresponds to variant rs62635003dbSNPEnsembl.1
Natural variantiVAR_008510436G → D in RP3. 3 PublicationsCorresponds to variant rs62635004dbSNPEnsembl.1
Natural variantiVAR_011562526Missing .1 Publication1
Natural variantiVAR_011563533T → M.1 PublicationCorresponds to variant rs41312104dbSNPEnsembl.1
Natural variantiVAR_008511566G → E.4 PublicationsCorresponds to variant rs1801688dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005547354 – 415Missing in isoform 4. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_009183473 – 480YLLDEMTK → THHEPEFQ in isoform 5. 1 Publication8
Alternative sequenceiVSP_009184481 – 1020Missing in isoform 5. 1 PublicationAdd BLAST540
Alternative sequenceiVSP_044559585 – 1020GNDTG…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. CuratedAdd BLAST436
Alternative sequenceiVSP_005548585 – 789Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST205
Alternative sequenceiVSP_005549841 – 851DHEFSKTEELK → YSASHSQIVSV in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_005550852 – 1020Missing in isoform 3. 1 PublicationAdd BLAST169

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]
XP_016885199.1. XM_017029710.1. [Q92834-1]
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]
XP_016885199.1. XM_017029710.1. [Q92834-1]
UniGeneiHs.61438.

3D structure databases

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

Protein-protein interaction databases

BioGridi112030. 37 interactors.
IntActiQ92834. 29 interactors.
STRINGi9606.ENSP00000367766.

PTM databases

iPTMnetiQ92834.
PhosphoSitePlusiQ92834.

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.
DisGeNETi6103.
GeneCardsiRPGR.
GeneReviewsiRPGR.
HGNCiHGNC:10295. RPGR.
HPAiHPA001593.
MalaCardsiRPGR.
MIMi300029. phenotype.
300455. phenotype.
300834. phenotype.
304020. phenotype.
312610. gene.
neXtProtiNX_Q92834.
OpenTargetsiENSG00000156313.
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.
GeneTreeiENSGT00860000133726.
HOGENOMiHOG000231314.
HOVERGENiHBG026899.
InParanoidiQ92834.
KOiK19607.
OMAiKMPVQSK.
OrthoDBiEOG091G08E2.
PhylomeDBiQ92834.
TreeFamiTF331400.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156313-MONOMER.

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: November 30, 2016
This is version 178 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.