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Q9R0X5 (RPGR_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified June 11, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
X-linked retinitis pigmentosa GTPase regulator

Short name=mRpgr
Gene names
Name:Rpgr
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1001 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.12 Ref.16

Subunit structure

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. Ref.6 Ref.7 Ref.10

Subcellular location

Golgi apparatus. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity Ref.1 Ref.9 Ref.10 Ref.13.

Isoform 5: Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletoncilium axoneme. Cytoplasmcytoskeletonflagellum axoneme Ref.1 Ref.9 Ref.10 Ref.13.

Tissue specificity

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. Ref.1 Ref.2 Ref.6 Ref.8 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15

Developmental stage

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. Ref.1 Ref.15

Post-translational modification

Prenylated.

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 (Ref.12).

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 (Ref.13).

Overexpression of isoform 1 results in atypical accumulation of Rpgr in photoreceptor outer segments, abnormal photoreceptor morphology and severe retinal degeneration (Ref.15).

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 (Ref.16).

Sequence similarities

Contains 6 RCC1 repeats.

Sequence caution

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.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Sensory transduction
Vision
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
Golgi apparatus
   Coding sequence diversityAlternative splicing
   DomainRepeat
   Molecular functionGuanine-nucleotide releasing factor
   PTMLipoprotein
Methylation
Prenylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcilium assembly

Inferred from electronic annotation. Source: Ensembl

eye photoreceptor cell development

Inferred from mutant phenotype PubMed 12651948. Source: MGI

intraciliary transport

Inferred from mutant phenotype Ref.12. Source: UniProtKB

response to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentGolgi apparatus

Inferred from direct assay Ref.1. Source: UniProtKB

centrosome

Inferred from sequence or structural similarity. Source: UniProtKB

ciliary basal body

Inferred from direct assay Ref.10. Source: UniProtKB

cilium

Inferred from direct assay PubMed 11104772PubMed 12651948. Source: MGI

cytoplasm

Inferred from direct assay PubMed 11104772. Source: MGI

photoreceptor outer segment

Inferred from electronic annotation. Source: Ensembl

sperm flagellum

Inferred from direct assay Ref.10. Source: UniProtKB

   Molecular_functionguanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: UniProtKB-KW

protein binding

Inferred from physical interaction Ref.6. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Dfnb31Q80VW5-122EBI-6915646,EBI-6915655

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9R0X5-1)

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.
Isoform 2 (identifier: Q9R0X5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     525-817: Missing.
Isoform 3 (identifier: Q9R0X5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     525-817: Missing.
     904-943: Missing.
Isoform 4 (identifier: Q9R0X5-4)

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.
Isoform 5 (identifier: Q9R0X5-5)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 998998X-linked retinitis pigmentosa GTPase regulator
PRO_0000206639
Propeptide999 – 10013Removed in mature form Potential
PRO_0000370845

Regions

Repeat54 – 10552RCC1 1
Repeat106 – 15853RCC1 2
Repeat159 – 20850RCC1 3
Repeat209 – 26153RCC1 4
Repeat262 – 31352RCC1 5
Repeat314 – 36754RCC1 6
Compositional bias530 – 885356Glu-rich

Amino acid modifications

Modified residue9981Cysteine methyl ester Potential
Lipidation9981S-geranylgeranyl cysteine Probable

Natural variations

Alternative sequence260 – 469210Missing in isoform 4.
VSP_005551
Alternative sequence525 – 817293Missing in isoform 2, isoform 3 and isoform 4.
VSP_005552
Alternative sequence818 – 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_045292
Alternative sequence904 – 94340Missing in isoform 3.
VSP_005553
Alternative sequence904 – 9074GHMY → DFLL in isoform 4.
VSP_005554
Alternative sequence908 – 100194Missing in isoform 4.
VSP_005555

Experimental info

Sequence conflict2261N → S in CAC86115. Ref.3
Sequence conflict6061K → R in CAB54041. Ref.2
Sequence conflict6061K → R in AEO00588. Ref.6
Sequence conflict6971S → N in CAB54041. Ref.2
Sequence conflict6971S → N in AEO00588. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (ex1-19) [UniParc].

Last modified February 6, 2013. Version 2.
Checksum: 021997395B74E6CA

FASTA1,001111,801
        10         20         30         40         50         60 
MAESESLVPD TGAVFTFGKT KFAENIPSKF WFKNDIPICL SCGDEHTAIV TGNNKLYMFG 

        70         80         90        100        110        120 
SNNWGQLGLG SKAAIIKPTC IKALKPEKVK LAACGRNHTL VSTDTGGVYA AGGNNEGQLG 

       130        140        150        160        170        180 
LGDTDDRDTF HQIVFFTPAD TIKQLSAGAN TSAALTEDGK LFMWGDNSEG QIGLEDKSNV 

       190        200        210        220        230        240 
CIPHEVTVGK PISWISCGYY HSAFVTMDGE LYTFGEPENG KLGLPNELLM NHRSPQRVLG 

       250        260        270        280        290        300 
IPERVIQVAC GGGHTVVLTE KVVYAFGLGQ FGQLGLGTFL FETSEPKIIE RIKDQKICHI 

       310        320        330        340        350        360 
SCGENHTALM TELGLLYTFG DGRHGKLGLG MENFTNQFFP TLCSNFLRFA VQLIACGGCH 

       370        380        390        400        410        420 
MLVFATPRLG TIDEPKFEDV YEPYISTGSF SINDLSPRSS LNRSLSARLR RRERERPPCS 

       430        440        450        460        470        480 
ASMVGTLPPL EGTSASTSAY FYPSSPPFHL SVNNYPEKSP SESMEPLDSD YFEDKMNKDT 

       490        500        510        520        530        540 
ETENSSAVDS ENFGETNDIL NMTHMMTTSS NEKLLDFSPI QKQQNQDTFE KVMESTPCTE 

       550        560        570        580        590        600 
NEDSYEYEEM SKIKEVTVYK QYLAKGIYMI RPAEILEAFS DEEVGNGLDQ VEEPRVFTDG 

       610        620        630        640        650        660 
KGLQSKQVGK ESDEEIVSEK KTEVMEVADV KKIRESEENS KSDSLFDDLP DKTMNSESED 

       670        680        690        700        710        720 
NKDIAEERRS SEQNMTFDSE TELVEEPDSY MECERHSEQD SAEELEQPKL VEYSSEEKDE 

       730        740        750        760        770        780 
KDEKDDDEVE TENLWYDRNC TEQETENVFR ATRFFPKFDL KHDHLSGIPE EQEGPEDSEG 

       790        800        810        820        830        840 
NVVVEQVVQA QKENLEFEGD RKEAKAEAPS DVITEKEAPQ LSETVKPEEG EMDEEISILN 

       850        860        870        880        890        900 
VEDTVEEERK EGEKEIVEEG SIPETEGSET IDITDEKLDE VLKEEDSASL LQRALREYNE 

       910        920        930        940        950        960 
NPKGHMYDRV KSSSSEILGG NDPTSKDIKK AKKISFFNRM SLTGQKLMQN TNDPLPEIKP 

       970        980        990       1000 
IGDQIALQSD KKDANQNHMG QNLQDSTTPN MEGKSKSCTI L 

« Hide

Isoform 2 [UniParc].

Checksum: 1960A6183DB7F93D
Show »

FASTA70877,884
Isoform 3 [UniParc].

Checksum: 1B7ACEC74AFBE2D0
Show »

FASTA66873,427
Isoform 4 [UniParc].

Checksum: 419389829C4A7BB3
Show »

FASTA40444,323
Isoform 5 (ORF15) [UniParc].

Checksum: C2630A87241006B5
Show »

FASTA1,305146,029

References

« Hide 'large scale' references
[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]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds."
Brunner S., Skosyrski S., Kirschner-Schwabe R., Knobeloch K.P., Neidhardt J., Feil S., Glaus E., Luhmann U.F., Ruther K., Berger W.
Invest. Ophthalmol. Vis. Sci. 51:1106-1115(2010) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_035415.1. NM_011285.2.
UniGeneMm.247556.

3D structure databases

ProteinModelPortalQ9R0X5.
SMRQ9R0X5. Positions 7-367.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid202963. 1 interaction.
DIPDIP-46319N.
IntActQ9R0X5. 1 interaction.
STRING10090.ENSMUSP00000037358.

PTM databases

PhosphoSiteQ9R0X5.

Proteomic databases

PaxDbQ9R0X5.
PRIDEQ9R0X5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID19893.
KEGGmmu:19893.
UCSCuc009sqh.2. mouse.
uc009sqj.2. mouse. [Q9R0X5-4]

Organism-specific databases

CTD6103.
MGIMGI:1344037. Rpgr.

Phylogenomic databases

eggNOGCOG5184.
HOGENOMHOG000231314.
HOVERGENHBG026899.
InParanoidQ9R0X5.
TreeFamTF331400.

Gene expression databases

CleanExMM_RPGR.
GenevestigatorQ9R0X5.

Family and domain databases

Gene3D2.130.10.30. 1 hit.
InterProIPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
[Graphical view]
PfamPF00415. RCC1. 6 hits.
[Graphical view]
PRINTSPR00633. RCCNDNSATION.
SUPFAMSSF50985. SSF50985. 1 hit.
PROSITEPS00626. RCC1_2. 3 hits.
PS50012. RCC1_3. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRPGR. mouse.
NextBio297416.
PROQ9R0X5.
SOURCESearch...

Entry information

Entry nameRPGR_MOUSE
AccessionPrimary (citable) accession number: Q9R0X5
Secondary accession number(s): A2ADP3 expand/collapse secondary AC list , G9BBQ2, O88408, Q9CU92
Entry history
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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

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