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Q9R0X5

- RPGR_MOUSE

UniProt

Q9R0X5 - RPGR_MOUSE

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Protein

X-linked retinitis pigmentosa GTPase regulator

Gene
Rpgr
Organism
Mus musculus (Mouse)
Status
Reviewed - 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.2 Publications

GO - Molecular functioni

  1. guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  2. protein binding Source: IntAct

GO - Biological processi

  1. cilium assembly Source: Ensembl
  2. eye photoreceptor cell development Source: MGI
  3. intraciliary transport Source: UniProtKB
  4. response to stimulus Source: UniProtKB-KW
  5. 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
ProteomesiUP000000589: Unplaced

Organism-specific databases

MGIiMGI:1344037. Rpgr.

Subcellular locationi

Golgi apparatus. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity 4 Publications
Isoform 5 : Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletoncilium axoneme. Cytoplasmcytoskeletonflagellum axoneme 4 Publications

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. ciliary basal body Source: UniProtKB
  3. cilium Source: MGI
  4. cytoplasm Source: MGI
  5. Golgi apparatus Source: UniProtKB
  6. photoreceptor outer segment Source: Ensembl
  7. sperm flagellum Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Golgi apparatus

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 998998X-linked retinitis pigmentosa GTPase regulatorPRO_0000206639Add
BLAST
Propeptidei999 – 10013Removed in mature form Reviewed predictionPRO_0000370845

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei998 – 9981Cysteine methyl ester Reviewed prediction
Lipidationi998 – 9981S-geranylgeranyl cysteine Inferred

Post-translational modificationi

Prenylated.

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

PaxDbiQ9R0X5.
PRIDEiQ9R0X5.

PTM databases

PhosphoSiteiQ9R0X5.

Expressioni

Tissue specificityi

Colocalizes with either CEP290, DFNB31 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

CleanExiMM_RPGR.
GenevestigatoriQ9R0X5.

Interactioni

Subunit structurei

Interacts with RPGRIP1 By similarity. Interacts with PDE6D. Interacts with NPM1 By similarity. Interacts with RPGRIP1L By similarity. Isoform 5 interacts (via N-terminus) with SMC1A and SMC3. Isoform 5 interacts with CEP290. Interacts with DFNB31.3 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi202963. 1 interaction.
DIPiDIP-46319N.
IntActiQ9R0X5. 1 interaction.
STRINGi10090.ENSMUSP00000037358.

Structurei

3D structure databases

ProteinModelPortaliQ9R0X5.
SMRiQ9R0X5. Positions 7-367.

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 – 885356Glu-richAdd
BLAST

Sequence similaritiesi

Contains 6 RCC1 repeats.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG5184.
HOGENOMiHOG000231314.
HOVERGENiHBG026899.
InParanoidiQ9R0X5.
TreeFamiTF331400.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
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. Align

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

MAESESLVPD TGAVFTFGKT KFAENIPSKF WFKNDIPICL SCGDEHTAIV     50
TGNNKLYMFG SNNWGQLGLG SKAAIIKPTC IKALKPEKVK LAACGRNHTL 100
VSTDTGGVYA AGGNNEGQLG LGDTDDRDTF HQIVFFTPAD TIKQLSAGAN 150
TSAALTEDGK LFMWGDNSEG QIGLEDKSNV CIPHEVTVGK PISWISCGYY 200
HSAFVTMDGE LYTFGEPENG KLGLPNELLM NHRSPQRVLG IPERVIQVAC 250
GGGHTVVLTE KVVYAFGLGQ FGQLGLGTFL FETSEPKIIE RIKDQKICHI 300
SCGENHTALM TELGLLYTFG DGRHGKLGLG MENFTNQFFP TLCSNFLRFA 350
VQLIACGGCH MLVFATPRLG TIDEPKFEDV YEPYISTGSF SINDLSPRSS 400
LNRSLSARLR RRERERPPCS ASMVGTLPPL EGTSASTSAY FYPSSPPFHL 450
SVNNYPEKSP SESMEPLDSD YFEDKMNKDT ETENSSAVDS ENFGETNDIL 500
NMTHMMTTSS NEKLLDFSPI QKQQNQDTFE KVMESTPCTE NEDSYEYEEM 550
SKIKEVTVYK QYLAKGIYMI RPAEILEAFS DEEVGNGLDQ VEEPRVFTDG 600
KGLQSKQVGK ESDEEIVSEK KTEVMEVADV KKIRESEENS KSDSLFDDLP 650
DKTMNSESED NKDIAEERRS SEQNMTFDSE TELVEEPDSY MECERHSEQD 700
SAEELEQPKL VEYSSEEKDE KDEKDDDEVE TENLWYDRNC TEQETENVFR 750
ATRFFPKFDL KHDHLSGIPE EQEGPEDSEG NVVVEQVVQA QKENLEFEGD 800
RKEAKAEAPS DVITEKEAPQ LSETVKPEEG EMDEEISILN VEDTVEEERK 850
EGEKEIVEEG SIPETEGSET IDITDEKLDE VLKEEDSASL LQRALREYNE 900
NPKGHMYDRV KSSSSEILGG NDPTSKDIKK AKKISFFNRM SLTGQKLMQN 950
TNDPLPEIKP IGDQIALQSD KKDANQNHMG QNLQDSTTPN MEGKSKSCTI 1000
L 1001
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 AAC40190.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAB30628.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence CAM22657.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei260 – 469210Missing in isoform 4. VSP_005551Add
BLAST
Alternative sequencei525 – 817293Missing in isoform 2, isoform 3 and isoform 4. VSP_005552Add
BLAST
Alternative sequencei818 – 1001184APQLS…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. VSP_045292Add
BLAST
Alternative sequencei904 – 94340Missing in isoform 3. VSP_005553Add
BLAST
Alternative sequencei904 – 9074GHMY → DFLL in isoform 4. VSP_005554
Alternative sequencei908 – 100194Missing in isoform 4. VSP_005555Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti226 – 2261N → S in CAC86115. 1 Publication
Sequence conflicti606 – 6061K → R in CAB54041. 1 Publication
Sequence conflicti606 – 6061K → R in AEO00588. 1 Publication
Sequence conflicti697 – 6971S → N in CAB54041. 1 Publication
Sequence conflicti697 – 6971S → N in AEO00588. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc009sqh.2. mouse.
uc009sqj.2. mouse. [Q9R0X5-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
RefSeqi NP_035415.1. NM_011285.2.
UniGenei Mm.247556.

3D structure databases

ProteinModelPortali Q9R0X5.
SMRi Q9R0X5. Positions 7-367.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 202963. 1 interaction.
DIPi DIP-46319N.
IntActi Q9R0X5. 1 interaction.
STRINGi 10090.ENSMUSP00000037358.

PTM databases

PhosphoSitei Q9R0X5.

Proteomic databases

PaxDbi Q9R0X5.
PRIDEi Q9R0X5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 19893.
KEGGi mmu:19893.
UCSCi uc009sqh.2. mouse.
uc009sqj.2. mouse. [Q9R0X5-4 ]

Organism-specific databases

CTDi 6103.
MGIi MGI:1344037. Rpgr.

Phylogenomic databases

eggNOGi COG5184.
HOGENOMi HOG000231314.
HOVERGENi HBG026899.
InParanoidi Q9R0X5.
TreeFami TF331400.

Miscellaneous databases

ChiTaRSi RPGR. mouse.
NextBioi 297416.
PROi Q9R0X5.
SOURCEi Search...

Gene expression databases

CleanExi MM_RPGR.
Genevestigatori Q9R0X5.

Family and domain databases

Gene3Di 2.130.10.30. 1 hit.
InterProi IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view ]
Pfami PF00415. RCC1. 6 hits.
[Graphical view ]
PRINTSi PR00633. RCCNDNSATION.
SUPFAMi SSF50985. SSF50985. 1 hit.
PROSITEi PS00626. RCC1_2. 3 hits.
PS50012. RCC1_3. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator."
    Yan D., Swain P.K., Breuer D., Tucker R.M., Wu W., Fujita R., Rehemtulla A., Burke D., Swaroop A.
    J. Biol. Chem. 273:19656-19663(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, ISOPRENYLATION.
    Tissue: Brain.
  2. "RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa."
    Kirschner R., Rosenberg T., Schultz-Heienbrok R., Lenzner S., Feil S., Roepman R., Cremers F.P.M., Ropers H.-H., Berger W.
    Hum. Mol. Genet. 8:1571-1578(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Testis.
  3. "DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements."
    Kirschner R., Erturk D., Zeitz C., Sahin S., Ramser J., Cremers F.P.M., Ropers H.-H., Berger W.
    Hum. Genet. 109:271-278(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
    Strain: 129/SvEvTacfBr.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  5. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-845 (ISOFORMS 2/3).
    Strain: C57BL/6J.
    Tissue: Ovary and Uterus.
  6. "RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms."
    Wright R.N., Hong D.H., Perkins B.
    Invest. Ophthalmol. Vis. Sci. 53:1519-1529(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 525-1001 (ISOFORM 5), INTERACTION WITH DFNB31, TISSUE SPECIFICITY.
    Strain: 129/Sv.
  7. "The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase."
    Linari M., Ueffing M., Manson F., Wright A., Meitinger T., Becker J.
    Proc. Natl. Acad. Sci. U.S.A. 96:1315-1320(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PDE6D.
  8. "Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species."
    Mavlyutov T.A., Zhao H., Ferreira P.A.
    Hum. Mol. Genet. 11:1899-1907(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  9. "RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin."
    Shu X., Fry A.M., Tulloch B., Manson F.D., Crabb J.W., Khanna H., Faragher A.J., Lennon A., He S., Trojan P., Giessl A., Wolfrum U., Vervoort R., Swaroop A., Wright A.F.
    Hum. Mol. Genet. 14:1183-1197(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  10. "RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins."
    Khanna H., Hurd T.W., Lillo C., Shu X., Parapuram S.K., He S., Akimoto M., Wright A.F., Margolis B., Williams D.S., Swaroop A.
    J. Biol. Chem. 280:33580-33587(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SMC1A AND SMC3, SUBCELLULAR LOCATION.
  11. "In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse."
    Chang B., Khanna H., Hawes N., Jimeno D., He S., Lillo C., Parapuram S.K., Cheng H., Scott A., Hurd R.E., Sayer J.A., Otto E.A., Attanasio M., O'Toole J.F., Jin G., Shou C., Hildebrandt F., Williams D.S., Heckenlively J.R., Swaroop A.
    Hum. Mol. Genet. 15:1847-1857(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTS WITH CEP290, TISSUE SPECIFICITY.
  12. "Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly."
    Brunner S., Colman D., Travis A.J., Luhmann U.F., Shi W., Feil S., Imsand C., Nelson J., Grimm C., Rulicke T., Fundele R., Neidhardt J., Berger W.
    Biol. Reprod. 79:608-617(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY.
  13. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  14. "Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney."
    Patil S.B., Verma R., Venkatareddy M., Khanna H.
    Kidney Int. 78:622-623(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  15. "Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration."
    Wright R.N., Hong D.H., Perkins B.
    Invest. Ophthalmol. Vis. Sci. 52:5189-5201(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  16. "Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15."
    Thompson D.A., Khan N.W., Othman M.I., Chang B., Jia L., Grahek G., Wu Z., Hiriyanna S., Nellissery J., Li T., Khanna H., Colosi P., Swaroop A., Heckenlively J.R.
    PLoS ONE 7:E35865-E35865(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MOUSE MODEL OF X-LINKED RETINOSA PIGMENTOSA.

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: June 11, 2014
This is version 117 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

External Data

Dasty 3

Similar proteinsi