Q9R0X5 (RPGR_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
X-linked retinitis pigmentosa GTPase regulator
Short name=mRpgr

Gene names

Name:

Rpgr

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1001 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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. Cytoplasm › cytoskeleton › centrosome By similarity Ref.1 Ref.9 Ref.10 Ref.13. Isoform 5: Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › cilium axoneme. Cytoplasm › cytoskeleton › flagellum 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 process	Cilium biogenesis/degradation Sensory transduction Vision
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Golgi apparatus
Coding sequence diversity	Alternative splicing
Domain	Repeat
Molecular function	Guanine-nucleotide releasing factor
PTM	Lipoprotein Methylation Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	eye photoreceptor cell development Inferred from mutant phenotype PubMed 12651948. Source: MGI intraflagellar 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_component	Golgi apparatus Inferred from direct assay Ref.1. Source: UniProtKB centrosome Inferred from sequence or structural similarity. Source: UniProtKB cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell cilium basal body Inferred from direct assay Ref.10. Source: UniProtKB sperm flagellum Inferred from direct assay Ref.10. Source: UniProtKB
Molecular_function	guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 998	998	X-linked retinitis pigmentosa GTPase regulator		PRO_0000206639
	Propeptide	999 – 1001	3	Removed in mature form Potential		PRO_0000370845
Regions
	Repeat	54 – 105	52	RCC1 1
	Repeat	106 – 158	53	RCC1 2
	Repeat	159 – 208	50	RCC1 3
	Repeat	209 – 261	53	RCC1 4
	Repeat	262 – 313	52	RCC1 5
	Repeat	314 – 367	54	RCC1 6
	Compositional bias	530 – 885	356	Glu-rich
Amino acid modifications
	Modified residue	998	1	Cysteine methyl ester Potential
	Lipidation	998	1	S-geranylgeranyl cysteine Probable
Natural variations
	Alternative sequence	260 – 469	210	Missing in isoform 4.		VSP_005551
	Alternative sequence	525 – 817	293	Missing in isoform 2, isoform 3 and isoform 4.		VSP_005552
	Alternative sequence	818 – 1001	184	APQLS…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 sequence	904 – 943	40	Missing in isoform 3.		VSP_005553
	Alternative sequence	904 – 907	4	GHMY → DFLL in isoform 4.		VSP_005554
	Alternative sequence	908 – 1001	94	Missing in isoform 4.		VSP_005555
Experimental info
	Sequence conflict	226	1	N → S in CAC86115. Ref.3
	Sequence conflict	606	1	K → R in CAB54041. Ref.2
	Sequence conflict	606	1	K → R in AEO00588. Ref.6
	Sequence conflict	697	1	S → N in CAB54041. Ref.2
	Sequence conflict	697	1	S → N in AEO00588. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (ex1-19) [UniParc]. Last modified February 6, 2013. Version 2. Checksum: 021997395B74E6CA	FASTA	1,001	111,801
	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
	Isoform 2 [UniParc]. Checksum: 1960A6183DB7F93D	FASTA	708	77,884
	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 QKQQAPQLSE TVKPEEGEMD 550 560 570 580 590 600 EEISILNVED TVEEERKEGE KEIVEEGSIP ETEGSETIDI TDEKLDEVLK EEDSASLLQR 610 620 630 640 650 660 ALREYNENPK GHMYDRVKSS SSEILGGNDP TSKDIKKAKK ISFFNRMSLT GQKLMQNTND 670 680 690 700 PLPEIKPIGD QIALQSDKKD ANQNHMGQNL QDSTTPNMEG KSKSCTIL
	Isoform 3 [UniParc]. Checksum: 1B7ACEC74AFBE2D0	FASTA	668	73,427
	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 QKQQAPQLSE TVKPEEGEMD 550 560 570 580 590 600 EEISILNVED TVEEERKEGE KEIVEEGSIP ETEGSETIDI TDEKLDEVLK EEDSASLLQR 610 620 630 640 650 660 ALREYNENPK GQKLMQNTND PLPEIKPIGD QIALQSDKKD ANQNHMGQNL QDSTTPNMEG KSKSCTIL
	Isoform 4 [UniParc]. Checksum: 419389829C4A7BB3	FASTA	404	44,323
	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 GGGHTVVLTD YFEDKMNKDT ETENSSAVDS ENFGETNDIL NMTHMMTTSS 310 320 330 340 350 360 NEKLLDFSPI QKQQAPQLSE TVKPEEGEMD EEISILNVED TVEEERKEGE KEIVEEGSIP 370 380 390 400 ETEGSETIDI TDEKLDEVLK EEDSASLLQR ALREYNENPK DFLL
	Isoform 5 (ORF15) [UniParc]. Checksum: C2630A87241006B5	FASTA	1,305	146,029
	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 DVITEKEVSE SERESGGERE DRSEGDGDQI 850 860 870 880 890 900 CEKVSLETEH LQRAQGKQER KKGKDKRARC ILDMKEREED KGWEKGSEGG DKMKRDEGNQ 910 920 930 940 950 960 EKRKKEMEER DAGDERSEEE EGEEEEPEEG EKEEGGEEEE GTSEDQSRED EGDRQEKEGR 970 980 990 1000 1010 1020 REGKGRQEDG REGWKEGEEQ EQEEEIEEGE EEEREGEEEG GEEEGEGEGE REEEGEGEEE 1030 1040 1050 1060 1070 1080 GEGEEEGEGE EEGEGEEEGE GEEEGEGEEE GEGEEEGEGE EDGEGEEDGE GEEEGEGEEE 1090 1100 1110 1120 1130 1140 GEREEDGEGE EDGEGEEEGE GEEEGEGEEE GEGEEEGEGE GEEEGEGEWE GEEEGEGEEE 1150 1160 1170 1180 1190 1200 GEGEEEGEGE EEGEGEEEGE GEEEGGEDDE GEELEKKKGD ITEEEEEEEE GQEGDERERE 1210 1220 1230 1240 1250 1260 EHGSCEDDVE EDKTYDREEG EYKKAIGKVA DNESQEDRKQ SPKVSKINGS MKYGRHGTYS 1270 1280 1290 1300 EKPITNLGKT QPSKMPMESR QLVENGLLGS ERFWSDVLPL YLELK

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00122416. IPI00128188. IPI00230648. IPI00230650.
RefSeq	NP_001171421.1. NM_001177950.1. NP_035415.1. NM_011285.2.
UniGene	Mm.247556.
3D structure databases
ProteinModelPortal	Q9R0X5.
SMR	Q9R0X5. Positions 13-367.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-46319N.
STRING	10090.ENSMUSP00000037358.
PTM databases
PhosphoSite	Q9R0X5.
Proteomic databases
PaxDb	Q9R0X5.
PRIDE	Q9R0X5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000044598; ENSMUSP00000037358; ENSMUSG00000031174.
GeneID	19893.
KEGG	mmu:19893.
UCSC	uc009sqj.2. mouse.
Organism-specific databases
CTD	6103.
MGI	MGI:1344037. Rpgr.
Phylogenomic databases
eggNOG	COG5184.
GeneTree	ENSGT00700000104160.
HOGENOM	HOG000231314.
HOVERGEN	HBG026899.
InParanoid	Q9R0X5.
Gene expression databases
CleanEx	MM_RPGR.
Genevestigator	Q9R0X5.
GermOnline	ENSMUSG00000031174. Mus musculus.
Family and domain databases
Gene3D	2.130.10.30. 1 hit.
InterPro	IPR009091. RCC1/BLIP-II. IPR000408. Reg_chr_condens. [Graphical view]
Pfam	PF00415. RCC1. 6 hits. [Graphical view]
PRINTS	PR00633. RCCNDNSATION.
SUPFAM	SSF50985. RCC1/BLIP-II. 1 hit.
PROSITE	PS00625. RCC1_1. False negative. PS00626. RCC1_2. 3 hits. PS50012. RCC1_3. 6 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RPGR. mouse.
NextBio	297416.
SOURCE	Search...

Entry information

Entry name

RPGR_MOUSE

Accession

Primary (citable) accession number: Q9R0X5
Secondary accession number(s): A2ADP3 , G9BBQ2, O88408, Q9CU92

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	February 6, 2013
Last modified:	May 1, 2013
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program