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Protein

X-linked retinitis pigmentosa GTPase regulator

Gene

Rpgr

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Could be a guanine-nucleotide releasing factor (By similarity). Plays a role in ciliogenesis (By similarity). Probably regulates cilia formation by regulating actin stress filaments and cell contractility (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia (By similarity). Plays an important role in photoreceptor integrity. Isoform 5 may play a critical role in spermatogenesis and in intraflagellar transport processes.By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

  • cellular response to light stimulus Source: MGI
  • cilium assembly Source: MGI
  • eye photoreceptor cell development Source: MGI
  • intraciliary transport Source: UniProtKB
  • retina morphogenesis in camera-type eye Source: MGI
  • 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
Short name:
mRpgr
Gene namesi
Name:Rpgr
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1344037. Rpgr.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Golgi apparatus

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002066391 – 998X-linked retinitis pigmentosa GTPase regulatorAdd BLAST998
PropeptideiPRO_0000370845999 – 1001Removed in mature formSequence analysis3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei518PhosphoserineBy similarity1
Modified residuei998Cysteine methyl esterSequence analysis1
Lipidationi998S-geranylgeranyl cysteine1 Publication1

Post-translational modificationi

Prenylated.1 Publication

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

PaxDbiQ9R0X5.
PRIDEiQ9R0X5.

PTM databases

iPTMnetiQ9R0X5.
PhosphoSitePlusiQ9R0X5.

Expressioni

Tissue specificityi

Colocalizes with either CEP290, WHRN or RPGRIP1 in the photoreceptor connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment. Expressed in kidney. Isoforms 1 and 5 expressed in retina (at protein level). Widely expressed with highest levels in brain and testis and low levels in eye.9 Publications

Developmental stagei

At postnatal day 3 isoform 1 is expressed in the retina in a narrow band at the developing photoreceptor layer; expression in this band persists through to postnatal day 14 but becomes severely diminished in the adult retina. Isoform 5 is first detected in the retina at postnatal day 14 and is expressed at increased levels in the adult retina (at protein level). Expressed throughout embryonic development from day 7 of gestation. Also expressed in adult.2 Publications

Gene expression databases

BgeeiENSMUSG00000031174.
CleanExiMM_RPGR.

Interactioni

Subunit structurei

Interacts with PDE6D, RPGRIP1 and RPGRIP1L; PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites (By similarity). Interacts with NPM1 (By similarity). Interacts with PDE6D. Isoform 5 interacts (via N-terminus) with SMC1A and SMC3. Isoform 5 interacts with CEP290. Interacts with WHRN.By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Dfnb31Q80VW5-122EBI-6915646,EBI-6915655

Protein-protein interaction databases

BioGridi202963. 1 interactor.
DIPiDIP-46319N.
IntActiQ9R0X5. 2 interactors.
STRINGi10090.ENSMUSP00000037358.

Structurei

3D structure databases

ProteinModelPortaliQ9R0X5.
SMRiQ9R0X5.
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 – 885Glu-richAdd BLAST356

Domaini

The RCC1 repeat region mediates interactions with RPGRIP1.By similarity

Sequence similaritiesi

Contains 6 RCC1 repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
HOGENOMiHOG000231314.
HOVERGENiHBG026899.
InParanoidiQ9R0X5.
KOiK19607.
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. 3 hits.
PS50012. RCC1_3. 6 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9R0X5-1) [UniParc]FASTAAdd to basket
Also known as: ex1-19

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
MAESESLVPD TGAVFTFGKT KFAENIPSKF WFKNDIPICL SCGDEHTAIV
60 70 80 90 100
TGNNKLYMFG SNNWGQLGLG SKAAIIKPTC IKALKPEKVK LAACGRNHTL
110 120 130 140 150
VSTDTGGVYA AGGNNEGQLG LGDTDDRDTF HQIVFFTPAD TIKQLSAGAN
160 170 180 190 200
TSAALTEDGK LFMWGDNSEG QIGLEDKSNV CIPHEVTVGK PISWISCGYY
210 220 230 240 250
HSAFVTMDGE LYTFGEPENG KLGLPNELLM NHRSPQRVLG IPERVIQVAC
260 270 280 290 300
GGGHTVVLTE KVVYAFGLGQ FGQLGLGTFL FETSEPKIIE RIKDQKICHI
310 320 330 340 350
SCGENHTALM TELGLLYTFG DGRHGKLGLG MENFTNQFFP TLCSNFLRFA
360 370 380 390 400
VQLIACGGCH MLVFATPRLG TIDEPKFEDV YEPYISTGSF SINDLSPRSS
410 420 430 440 450
LNRSLSARLR RRERERPPCS ASMVGTLPPL EGTSASTSAY FYPSSPPFHL
460 470 480 490 500
SVNNYPEKSP SESMEPLDSD YFEDKMNKDT ETENSSAVDS ENFGETNDIL
510 520 530 540 550
NMTHMMTTSS NEKLLDFSPI QKQQNQDTFE KVMESTPCTE NEDSYEYEEM
560 570 580 590 600
SKIKEVTVYK QYLAKGIYMI RPAEILEAFS DEEVGNGLDQ VEEPRVFTDG
610 620 630 640 650
KGLQSKQVGK ESDEEIVSEK KTEVMEVADV KKIRESEENS KSDSLFDDLP
660 670 680 690 700
DKTMNSESED NKDIAEERRS SEQNMTFDSE TELVEEPDSY MECERHSEQD
710 720 730 740 750
SAEELEQPKL VEYSSEEKDE KDEKDDDEVE TENLWYDRNC TEQETENVFR
760 770 780 790 800
ATRFFPKFDL KHDHLSGIPE EQEGPEDSEG NVVVEQVVQA QKENLEFEGD
810 820 830 840 850
RKEAKAEAPS DVITEKEAPQ LSETVKPEEG EMDEEISILN VEDTVEEERK
860 870 880 890 900
EGEKEIVEEG SIPETEGSET IDITDEKLDE VLKEEDSASL LQRALREYNE
910 920 930 940 950
NPKGHMYDRV KSSSSEILGG NDPTSKDIKK AKKISFFNRM SLTGQKLMQN
960 970 980 990 1000
TNDPLPEIKP IGDQIALQSD KKDANQNHMG QNLQDSTTPN MEGKSKSCTI

L
Length:1,001
Mass (Da):111,801
Last modified:February 6, 2013 - v2
Checksum:i021997395B74E6CA
GO
Isoform 2 (identifier: Q9R0X5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     525-817: Missing.

Show »
Length:708
Mass (Da):77,884
Checksum:i1960A6183DB7F93D
GO
Isoform 3 (identifier: Q9R0X5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     525-817: Missing.
     904-943: Missing.

Show »
Length:668
Mass (Da):73,427
Checksum:i1B7ACEC74AFBE2D0
GO
Isoform 4 (identifier: Q9R0X5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     260-469: Missing.
     525-817: Missing.
     904-907: GHMY → DFLL
     908-1001: Missing.

Show »
Length:404
Mass (Da):44,323
Checksum:i419389829C4A7BB3
GO
Isoform 5 (identifier: Q9R0X5-5) [UniParc]FASTAAdd to basket
Also known as: ORF15

The sequence of this isoform differs from the canonical sequence as follows:
     818-1001: APQLSETVKP...EGKSKSCTIL → VSESERESGG...DVLPLYLELK

Note: No experimental confirmation available.
Show »
Length:1,305
Mass (Da):146,029
Checksum:iC2630A87241006B5
GO

Sequence cautioni

The sequence AAC40190 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB30628 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAM22657 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti226N → S in CAC86115 (PubMed:11702207).Curated1
Sequence conflicti606K → R in CAB54041 (PubMed:10401007).Curated1
Sequence conflicti606K → R in AEO00588 (PubMed:22323458).Curated1
Sequence conflicti697S → N in CAB54041 (PubMed:10401007).Curated1
Sequence conflicti697S → N in AEO00588 (PubMed:22323458).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005551260 – 469Missing in isoform 4. 1 PublicationAdd BLAST210
Alternative sequenceiVSP_005552525 – 817Missing in isoform 2, isoform 3 and isoform 4. 1 PublicationAdd BLAST293
Alternative sequenceiVSP_045292818 – 1001APQLS…SCTIL → VSESERESGGEREDRSEGDG DQICEKVSLETEHLQRAQGK QERKKGKDKRARCILDMKER EEDKGWEKGSEGGDKMKRDE GNQEKRKKEMEERDAGDERS EEEEGEEEEPEEGEKEEGGE EEEGTSEDQSREDEGDRQEK EGRREGKGRQEDGREGWKEG EEQEQEEEIEEGEEEEREGE EEGGEEEGEGEGEREEEGEG EEEGEGEEEGEGEEEGEGEE EGEGEEEGEGEEEGEGEEEG EGEEDGEGEEDGEGEEEGEG EEEGEREEDGEGEEDGEGEE EGEGEEEGEGEEEGEGEEEG EGEGEEEGEGEWEGEEEGEG EEEGEGEEEGEGEEEGEGEE EGEGEEEGGEDDEGEELEKK KGDITEEEEEEEEGQEGDER EREEHGSCEDDVEEDKTYDR EEGEYKKAIGKVADNESQED RKQSPKVSKINGSMKYGRHG TYSEKPITNLGKTQPSKMPM ESRQLVENGLLGSERFWSDV LPLYLELK in isoform 5. CuratedAdd BLAST184
Alternative sequenceiVSP_005553904 – 943Missing in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_005554904 – 907GHMY → DFLL in isoform 4. 1 Publication4
Alternative sequenceiVSP_005555908 – 1001Missing in isoform 4. 1 PublicationAdd BLAST94

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044677 mRNA. Translation: AAC40190.1. Different initiation.
AJ238396 mRNA. Translation: CAB54041.1.
AJ318464 Genomic DNA. Translation: CAC86115.1.
AL671042 Genomic DNA. Translation: CAM22657.1. Different initiation.
AK017192 mRNA. Translation: BAB30628.3. Different initiation.
BX005236 Genomic DNA. No translation available.
HQ260316 Genomic DNA. Translation: AEO00588.1.
RefSeqiNP_035415.1. NM_011285.2.
UniGeneiMm.247556.

Genome annotation databases

GeneIDi19893.
KEGGimmu:19893.
UCSCiuc009sqj.2. mouse. [Q9R0X5-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044677 mRNA. Translation: AAC40190.1. Different initiation.
AJ238396 mRNA. Translation: CAB54041.1.
AJ318464 Genomic DNA. Translation: CAC86115.1.
AL671042 Genomic DNA. Translation: CAM22657.1. Different initiation.
AK017192 mRNA. Translation: BAB30628.3. Different initiation.
BX005236 Genomic DNA. No translation available.
HQ260316 Genomic DNA. Translation: AEO00588.1.
RefSeqiNP_035415.1. NM_011285.2.
UniGeneiMm.247556.

3D structure databases

ProteinModelPortaliQ9R0X5.
SMRiQ9R0X5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202963. 1 interactor.
DIPiDIP-46319N.
IntActiQ9R0X5. 2 interactors.
STRINGi10090.ENSMUSP00000037358.

PTM databases

iPTMnetiQ9R0X5.
PhosphoSitePlusiQ9R0X5.

Proteomic databases

PaxDbiQ9R0X5.
PRIDEiQ9R0X5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi19893.
KEGGimmu:19893.
UCSCiuc009sqj.2. mouse. [Q9R0X5-4]

Organism-specific databases

CTDi6103.
MGIiMGI:1344037. Rpgr.

Phylogenomic databases

eggNOGiKOG1426. Eukaryota.
COG5184. LUCA.
HOGENOMiHOG000231314.
HOVERGENiHBG026899.
InParanoidiQ9R0X5.
KOiK19607.
TreeFamiTF331400.

Miscellaneous databases

ChiTaRSiRpgr. mouse.
PROiQ9R0X5.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000031174.
CleanExiMM_RPGR.

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. 3 hits.
PS50012. RCC1_3. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRPGR_MOUSE
AccessioniPrimary (citable) accession number: Q9R0X5
Secondary accession number(s): A2ADP3
, G9BBQ2, O88408, Q9CU92
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: February 6, 2013
Last modified: November 30, 2016
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Miscellaneous

Male transgenic mice carrying multiple copies of the Rpgr transgene are infertile showing normal mating but no progeny; these mice also exhibit reduced sperm numbers as well as morphological and functional defects in the sperm flagellum.1 Publication
Male BL/6 and BALB/c transgenic mice with an in-frame deletion of exon 4 of Rpgr show retinal degeneration that is rod or cone dominated, respectively.1 Publication
Overexpression of isoform 1 results in atypical accumulation of Rpgr in photoreceptor outer segments, abnormal photoreceptor morphology and severe retinal degeneration.1 Publication
In a mouse model of X-linked retinosa pigmentosa, where a 32bp duplication leads to a frameshift in the reading frame and a premature stop codon in isoform 5 (ORF15), mice exhibited retinal pathology including pigment loss and a slow progressive decrease in outer nuclear layer thickness.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. 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.