Q96KN7 (RPGR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Short name=RPGR-interacting protein 1

Gene names

Name:

RPGRIP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1286 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Essential for RPGR function and is also required for normal disk morphogenesis By similarity.
Subunit structure	Forms homodimers and elongated homopolymers By similarity. Interacts with RPGR. Interacts with NPHP4. Ref.1 Ref.2 Ref.8
Subcellular location	Cell projection › cilium By similarity. Note: Situated between the axonemal microtubules and the plasma membrane By similarity.
Tissue specificity	Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. Ref.1 Ref.2 Ref.7
Involvement in disease	Leber congenital amaurosis 6 (LCA6) [MIM:613826]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.10 Cone-rod dystrophy 13 (CORD13) [MIM:608194]: An 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons.
Sequence similarities	Belongs to the RPGRIP1 family. Contains 1 C2 domain.
Sequence caution	The sequence CAE11866.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cell projection Cilium
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Cone-rod dystrophy Disease mutation Glaucoma Leber congenital amaurosis
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	eye photoreceptor cell development Inferred from electronic annotation. Source: Compara response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW retina development in camera-type eye Inferred from electronic annotation. Source: Compara visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	axoneme Inferred from electronic annotation. Source: Compara cilium Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96KN7-1)

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: Q96KN7-2)

Also known as: a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-617: Missing.
     618-623: ISLLHQ → MTFQHL

Isoform 3 (identifier: Q96KN7-3)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-641: Missing.
     642-673: LAQAGDTQPTTFCTYSFYDFETHCTPLSVGPQ → MLLMAPDRCRYVWKHCQPMEMRIKWIFLCCIR

Isoform 4 (identifier: Q96KN7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-358: Missing.
     359-383: EFQERVEDLEKERKLLNDNYDKLLE → MLKLDNKDVISHPLGYPSESLLSIA
     588-903: Missing.

Isoform 5 (identifier: Q96KN7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-384: Missing.

Isoform 6 (identifier: Q96KN7-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-384: Missing.
     966-1286: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1286	1286	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		PRO_0000097432
Regions
	Domain	801 – 890	90	C2
	Region	952 – 1281	330	Interaction with RPGR
	Coiled coil	294 – 584	291	Potential
Natural variations
	Alternative sequence	1 – 641	641	Missing in isoform 3.		VSP_009522
	Alternative sequence	1 – 617	617	Missing in isoform 2.		VSP_009521
	Alternative sequence	1 – 384	384	Missing in isoform 5 and isoform 6.		VSP_009520
	Alternative sequence	1 – 358	358	Missing in isoform 4.		VSP_009519
	Alternative sequence	359 – 383	25	EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4.		VSP_009523
	Alternative sequence	588 – 903	316	Missing in isoform 4.		VSP_009524
	Alternative sequence	618 – 623	6	ISLLHQ → MTFQHL in isoform 2.		VSP_009525
	Alternative sequence	642 – 673	32	LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3.		VSP_009526
	Alternative sequence	966 – 1286	321	Missing in isoform 6.		VSP_009527
	Natural variant	32	1	M → L. Ref.8		VAR_065720
	Natural variant	96	1	P → Q. Ref.10 Corresponds to variant rs1040904 [ dbSNP | Ensembl ].		VAR_057772
	Natural variant	135	1	S → R. Ref.8		VAR_065721
	Natural variant	192	1	K → E. Ref.10 Corresponds to variant rs6571751 [ dbSNP | Ensembl ].		VAR_017830
	Natural variant	318	1	A → V in a patient with primary open angle glaucoma. Ref.8		VAR_065722
	Natural variant	363	1	R → T in a patient with normal tension glaucoma. Ref.8		VAR_065723
	Natural variant	432	1	S → F Found in a patient with LCA6. Ref.10		VAR_067184
	Natural variant	547	1	A → S in CORD13. Ref.1 Ref.9 Corresponds to variant rs10151259 [ dbSNP | Ensembl ].		VAR_017831
	Natural variant	585	1	P → S. Ref.8		VAR_065724
	Natural variant	589	1	Q → H Does not affect the interaction with NPHP4. Ref.8 Corresponds to variant rs34067949 [ dbSNP | Ensembl ].		VAR_065725
	Natural variant	598	1	R → Q Found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4. Ref.8 Corresponds to variant rs74034910 [ dbSNP | Ensembl ].		VAR_065726
	Natural variant	601	1	S → L. Corresponds to variant rs3748360 [ dbSNP | Ensembl ].		VAR_017832
	Natural variant	601	1	S → W Found in a patient with LCA6. Ref.10		VAR_067185
	Natural variant	603	1	C → S. Ref.8		VAR_065727
	Natural variant	631	1	H → P in LCA6. Ref.10		VAR_067186
	Natural variant	635	1	A → G in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. Ref.8		VAR_065728
	Natural variant	638	1	T → I. Ref.8		VAR_065729
	Natural variant	746	1	G → E in LCA6. Ref.3		VAR_017833
	Natural variant	764	1	A → V Does not affect the interaction with NPHP4. Ref.8		VAR_065730
	Natural variant	806	1	T → I in a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4. Ref.8		VAR_065731
	Natural variant	812	1	R → H Does not affect the interaction with NPHP4. Ref.8		VAR_065732
	Natural variant	814	1	R → L. Ref.8		VAR_065733
	Natural variant	827	1	R → L in CORD13. Ref.9 Corresponds to variant rs28937883 [ dbSNP | Ensembl ].		VAR_017834
	Natural variant	837	1	A → G in a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4. Ref.8		VAR_065734
	Natural variant	838	1	I → V in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. Ref.8		VAR_065735
	Natural variant	841	1	A → T. Ref.8		VAR_065736
	Natural variant	852	1	R → Q. Ref.8		VAR_065737
	Natural variant	883	1	G → D. Ref.8		VAR_065738
	Natural variant	960	1	A → P. Corresponds to variant rs35810926 [ dbSNP | Ensembl ].		VAR_057773
	Natural variant	1033	1	E → Q. Ref.2 Ref.3 Ref.5 Ref.10 Corresponds to variant rs3748361 [ dbSNP | Ensembl ].		VAR_017835
	Natural variant	1057	1	H → L Found in a patient associated with LCA6. Ref.10		VAR_067187
	Natural variant	1114	1	D → G in LCA6. Ref.3 Corresponds to variant rs17103671 [ dbSNP | Ensembl ].		VAR_017836
	Natural variant	1130	1	E → Q Found in a patient with LCA6. Ref.11		VAR_067188
	Natural variant	1240	1	G → E. Corresponds to variant rs34725281 [ dbSNP | Ensembl ].		VAR_057774
Experimental info
	Sequence conflict	539	1	Missing in AAG10246. Ref.1
	Sequence conflict	554 – 555	2	HK → SQR in AAG10246. Ref.1
	Sequence conflict	611	1	G → R in CAE11866. Ref.6
	Sequence conflict	1159	1	P → L in CAE11866. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 00AC1C2A0AC82253	FASTA	1,286	146,682
	10 20 30 40 50 60 MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF FRLREDHMLV 70 80 90 100 110 120 KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET ARRGQKAGWR QRLSMHQRPQ 130 140 150 160 170 180 MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH 190 200 210 220 230 240 ATNENRGEVA SKPSELVSGS NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS 250 260 270 280 290 300 PEKMWPKDEN FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV 310 320 330 340 350 360 QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV SILQMTLKEF 370 380 390 400 410 420 QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE LIAEQLQQQV SQLQDQLDAE 430 440 450 460 470 480 LEDKRKVLLE LSREKAQNED LKLEVTNILQ KHKQEVELLQ NAATISQPPD RQSEPATHPA 490 500 510 520 530 540 VLQENTQIEP SEPKNQEEKK LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL 550 560 570 580 590 600 EAMMTKADND NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL 610 620 630 640 650 660 SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP TTFCTYSFYD 670 680 690 700 710 720 FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR LDIHQAMASE HSTLAAGWIC 730 740 750 760 770 780 FDRVLETVEK VHGLATLIGA GGEEFGVLEY WMRLRFPIKP SLQACNKRKK AQVYLSTDVL 790 800 810 820 830 840 GGRKAQEEEF RSESWEPQNE LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP 850 860 870 880 890 900 ASNNPYFRDQ ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE 910 920 930 940 950 960 SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS SKISSEEEKA 970 980 990 1000 1010 1020 SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV SYSRRKHGKR IGVQGKNRME 1030 1040 1050 1060 1070 1080 YLSLNILNGN TPEQVNYTEW KFSETNSFIG DGFKNQHEEE EMTLSHSALK QKEPLHPVND 1090 1100 1110 1120 1130 1140 KESSEQGSEV SEAQTTDSDD VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK 1150 1160 1170 1180 1190 1200 QVYVEYKFYD LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ 1210 1220 1230 1240 1250 1260 DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI VSPEDLATPI 1270 1280 GRLKVSLQAA AVLHAIYKEM TEDLFS
	Isoform 2 (a) [UniParc]. Checksum: F27A364596947FA9	FASTA	669	76,372
	10 20 30 40 50 60 MTFQHLGENL FELHIHQAFL TSAALAQAGD TQPTTFCTYS FYDFETHCTP LSVGPQPLYD 70 80 90 100 110 120 FTSQYVMETD SLFLHYLQEA SARLDIHQAM ASEHSTLAAG WICFDRVLET VEKVHGLATL 130 140 150 160 170 180 IGAGGEEFGV LEYWMRLRFP IKPSLQACNK RKKAQVYLST DVLGGRKAQE EEFRSESWEP 190 200 210 220 230 240 QNELWIEITK CCGLRSRWLG TQPSPYAVYR FFTFSDHDTA IIPASNNPYF RDQARFPVLV 250 260 270 280 290 300 TSDLDHYLRR EALSIHVFDD EDLEPGSYLG RARVPLLPLA KNESIKGDFN LTDPAEKPNG 310 320 330 340 350 360 SIQVQLDWKF PYIPPESFLK PEAQTKGKDT KDSSKISSEE EKASFPSQDQ MASPEVPIEA 370 380 390 400 410 420 GQYRSKRKPP HGGERKEKEH QVVSYSRRKH GKRIGVQGKN RMEYLSLNIL NGNTPEQVNY 430 440 450 460 470 480 TEWKFSETNS FIGDGFKNQH EEEEMTLSHS ALKQKEPLHP VNDKESSEQG SEVSEAQTTD 490 500 510 520 530 540 SDDVIVPPMS QKYPKADSEK MCIEIVSLAF YPEAEVMSDE NIKQVYVEYK FYDLPLSETE 550 560 570 580 590 600 TPVSLRKPRA GEEIHFHFSK VIDLDPQEQQ GRRRFLFDML NGQDPDQGHL KFTVVSDPLD 610 620 630 640 650 660 EEKKECEEVG YAYLQLWQIL ESGRDILEQE LDIVSPEDLA TPIGRLKVSL QAAAVLHAIY KEMTEDLFS
	Isoform 3 (b) [UniParc]. Checksum: 231F8AE6557EEEDB	FASTA	645	74,179
	10 20 30 40 50 60 MLLMAPDRCR YVWKHCQPME MRIKWIFLCC IRPLYDFTSQ YVMETDSLFL HYLQEASARL 70 80 90 100 110 120 DIHQAMASEH STLAAGWICF DRVLETVEKV HGLATLIGAG GEEFGVLEYW MRLRFPIKPS 130 140 150 160 170 180 LQACNKRKKA QVYLSTDVLG GRKAQEEEFR SESWEPQNEL WIEITKCCGL RSRWLGTQPS 190 200 210 220 230 240 PYAVYRFFTF SDHDTAIIPA SNNPYFRDQA RFPVLVTSDL DHYLRREALS IHVFDDEDLE 250 260 270 280 290 300 PGSYLGRARV PLLPLAKNES IKGDFNLTDP AEKPNGSIQV QLDWKFPYIP PESFLKPEAQ 310 320 330 340 350 360 TKGKDTKDSS KISSEEEKAS FPSQDQMASP EVPIEAGQYR SKRKPPHGGE RKEKEHQVVS 370 380 390 400 410 420 YSRRKHGKRI GVQGKNRMEY LSLNILNGNT PEQVNYTEWK FSETNSFIGD GFKNQHEEEE 430 440 450 460 470 480 MTLSHSALKQ KEPLHPVNDK ESSEQGSEVS EAQTTDSDDV IVPPMSQKYP KADSEKMCIE 490 500 510 520 530 540 IVSLAFYPEA EVMSDENIKQ VYVEYKFYDL PLSETETPVS LRKPRAGEEI HFHFSKVIDL 550 560 570 580 590 600 DPQEQQGRRR FLFDMLNGQD PDQGHLKFTV VSDPLDEEKK ECEEVGYAYL QLWQILESGR 610 620 630 640 DILEQELDIV SPEDLATPIG RLKVSLQAAA VLHAIYKEMT EDLFS
	Isoform 4 [UniParc]. Checksum: C444C7EBA35D4918	FASTA	612	70,051
	10 20 30 40 50 60 MLKLDNKDVI SHPLGYPSES LLSIASMLDS SDSSSQPHWS NELIAEQLQQ QVSQLQDQLD 70 80 90 100 110 120 AELEDKRKVL LELSREKAQN EDLKLEVTNI LQKHKQEVEL LQNAATISQP PDRQSEPATH 130 140 150 160 170 180 PAVLQENTQI EPSEPKNQEE KKLSQVLNEL QVSHAETTLE LEKTRDMLIL QRKINVCYQE 190 200 210 220 230 240 ELEAMMTKAD NDNRDHKEKL ERLTRLLDLK NNRIKQLEGI LRSHDLPTSG DFNLTDPAEK 250 260 270 280 290 300 PNGSIQVQLD WKFPYIPPES FLKPEAQTKG KDTKDSSKIS SEEEKASFPS QDQMASPEVP 310 320 330 340 350 360 IEAGQYRSKR KPPHGGERKE KEHQVVSYSR RKHGKRIGVQ GKNRMEYLSL NILNGNTPEQ 370 380 390 400 410 420 VNYTEWKFSE TNSFIGDGFK NQHEEEEMTL SHSALKQKEP LHPVNDKESS EQGSEVSEAQ 430 440 450 460 470 480 TTDSDDVIVP PMSQKYPKAD SEKMCIEIVS LAFYPEAEVM SDENIKQVYV EYKFYDLPLS 490 500 510 520 530 540 ETETPVSLRK PRAGEEIHFH FSKVIDLDPQ EQQGRRRFLF DMLNGQDPDQ GHLKFTVVSD 550 560 570 580 590 600 PLDEEKKECE EVGYAYLQLW QILESGRDIL EQELDIVSPE DLATPIGRLK VSLQAAAVLH 610 AIYKEMTEDL FS
	Isoform 5 [UniParc]. Checksum: 2A9013EC2A8319CD	FASTA	902	103,124
	10 20 30 40 50 60 MLDSSDSSSQ PHWSNELIAE QLQQQVSQLQ DQLDAELEDK RKVLLELSRE KAQNEDLKLE 70 80 90 100 110 120 VTNILQKHKQ EVELLQNAAT ISQPPDRQSE PATHPAVLQE NTQIEPSEPK NQEEKKLSQV 130 140 150 160 170 180 LNELQVSHAE TTLELEKTRD MLILQRKINV CYQEELEAMM TKADNDNRDH KEKLERLTRL 190 200 210 220 230 240 LDLKNNRIKQ LEGILRSHDL PTSEQLKDVA YGTRPLSLCL ETLPAHGDED KVDISLLHQG 250 260 270 280 290 300 ENLFELHIHQ AFLTSAALAQ AGDTQPTTFC TYSFYDFETH CTPLSVGPQP LYDFTSQYVM 310 320 330 340 350 360 ETDSLFLHYL QEASARLDIH QAMASEHSTL AAGWICFDRV LETVEKVHGL ATLIGAGGEE 370 380 390 400 410 420 FGVLEYWMRL RFPIKPSLQA CNKRKKAQVY LSTDVLGGRK AQEEEFRSES WEPQNELWIE 430 440 450 460 470 480 ITKCCGLRSR WLGTQPSPYA VYRFFTFSDH DTAIIPASNN PYFRDQARFP VLVTSDLDHY 490 500 510 520 530 540 LRREALSIHV FDDEDLEPGS YLGRARVPLL PLAKNESIKG DFNLTDPAEK PNGSIQVQLD 550 560 570 580 590 600 WKFPYIPPES FLKPEAQTKG KDTKDSSKIS SEEEKASFPS QDQMASPEVP IEAGQYRSKR 610 620 630 640 650 660 KPPHGGERKE KEHQVVSYSR RKHGKRIGVQ GKNRMEYLSL NILNGNTPEQ VNYTEWKFSE 670 680 690 700 710 720 TNSFIGDGFK NQHEEEEMTL SHSALKQKEP LHPVNDKESS EQGSEVSEAQ TTDSDDVIVP 730 740 750 760 770 780 PMSQKYPKAD SEKMCIEIVS LAFYPEAEVM SDENIKQVYV EYKFYDLPLS ETETPVSLRK 790 800 810 820 830 840 PRAGEEIHFH FSKVIDLDPQ EQQGRRRFLF DMLNGQDPDQ GHLKFTVVSD PLDEEKKECE 850 860 870 880 890 900 EVGYAYLQLW QILESGRDIL EQELDIVSPE DLATPIGRLK VSLQAAAVLH AIYKEMTEDL FS
	Isoform 6 [UniParc]. Checksum: 481BE9E573F48A33	FASTA	581	66,319
	10 20 30 40 50 60 MLDSSDSSSQ PHWSNELIAE QLQQQVSQLQ DQLDAELEDK RKVLLELSRE KAQNEDLKLE 70 80 90 100 110 120 VTNILQKHKQ EVELLQNAAT ISQPPDRQSE PATHPAVLQE NTQIEPSEPK NQEEKKLSQV 130 140 150 160 170 180 LNELQVSHAE TTLELEKTRD MLILQRKINV CYQEELEAMM TKADNDNRDH KEKLERLTRL 190 200 210 220 230 240 LDLKNNRIKQ LEGILRSHDL PTSEQLKDVA YGTRPLSLCL ETLPAHGDED KVDISLLHQG 250 260 270 280 290 300 ENLFELHIHQ AFLTSAALAQ AGDTQPTTFC TYSFYDFETH CTPLSVGPQP LYDFTSQYVM 310 320 330 340 350 360 ETDSLFLHYL QEASARLDIH QAMASEHSTL AAGWICFDRV LETVEKVHGL ATLIGAGGEE 370 380 390 400 410 420 FGVLEYWMRL RFPIKPSLQA CNKRKKAQVY LSTDVLGGRK AQEEEFRSES WEPQNELWIE 430 440 450 460 470 480 ITKCCGLRSR WLGTQPSPYA VYRFFTFSDH DTAIIPASNN PYFRDQARFP VLVTSDLDHY 490 500 510 520 530 540 LRREALSIHV FDDEDLEPGS YLGRARVPLL PLAKNESIKG DFNLTDPAEK PNGSIQVQLD 550 560 570 580 WKFPYIPPES FLKPEAQTKG KDTKDSSKIS SEEEKASFPS Q

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors." Roepman R., Bernoud-Hubac N., Schick D.E., Maugeri A., Berger W., Ropers H.-H., Cremers F.P.M., Ferreira P.A. Hum. Mol. Genet. 9:2095-2105(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [MRNA] OF 525-1286 (ISOFORM 1), INTERACTION WITH RPGR, TISSUE SPECIFICITY, VARIANT CORD13 SER-547. Tissue: Retina.
[2]	"Identification of a novel protein interacting with RPGR." Boylan J.P., Wright A.F. Hum. Mol. Genet. 9:2085-2093(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6), INTERACTION WITH RPGR, TISSUE SPECIFICITY, VARIANT GLN-1033.
[3]	"Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis." Gerber S., Perrault I., Hanein S., Barbet F., Ducroq D., Ghazi I., Martin-Coignard D., Leowski C., Homfray T., Dufier J.-L., Munnich A., Kaplan J., Rozet J.-M. Eur. J. Hum. Genet. 9:561-571(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS LCA6 GLU-746 AND GLY-1114, VARIANT GLN-1033.
[4]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT GLN-1033. Tissue: Brain.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 588-1286 (ISOFORM 1). Tissue: Retina.
[7]	"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.
[8]	"Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma." Fernandez-Martinez L., Letteboer S., Mardin C.Y., Weisschuh N., Gramer E., Weber B.H., Rautenstrauss B., Ferreira P.A., Kruse F.E., Reis A., Roepman R., Pasutto F. Eur. J. Hum. Genet. 19:445-451(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NPHP4, INVOLVEMENT IN GLAUCOMA, VARIANTS LEU-32; ARG-135; VAL-318; THR-363; SER-585; HIS-589; GLN-598; SER-603; GLY-635; ILE-638; VAL-764; ILE-806; HIS-812; LEU-814; GLY-837; VAL-838; THR-841; GLN-852 AND ASP-883, CHARACTERIZATION OF VARIANTS HIS-589; GLN-598; GLY-635; VAL-764; ILE-806; HIS-812; GLY-837 AND VAL-838.
[9]	"Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy." Hameed A., Abid A., Aziz A., Ismail M., Mehdi S.Q., Khaliq S. J. Med. Genet. 40:616-619(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CORD13 SER-547 AND LEU-827.
[10]	"Molecular characterization of Leber congenital amaurosis in Koreans." Seong M.W., Kim S.Y., Yu Y.S., Hwang J.M., Kim J.Y., Park S.S. Mol. Vis. 14:1429-1436(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LCA6 PRO-631, VARIANTS GLN-96; GLU-192; PHE-432; TRP-601; GLN-1033 AND LEU-1057.
[11]	"Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis." Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F. PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GLN-1130.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF227257 mRNA. Translation: AAG10246.1. AF265666 mRNA. Translation: AAG10000.1. AF265667 mRNA. Translation: AAG10001.1. AF260257 mRNA. Translation: AAF91371.1. AJ417048 , AJ417049, AJ417050, AJ417051, AJ417052, AJ417053, AJ417054, AJ417055, AJ417056, AJ417057, AJ417058, AJ417059, AJ417060, AJ417061, AJ417062, AJ417063, AJ417064, AJ417065, AJ417066 Genomic DNA. Translation: CAD01136.1. AJ417067 mRNA. Translation: CAD01135.1. AL135744 Genomic DNA. No translation available. BC039089 mRNA. Translation: AAH39089.1. BX571740 mRNA. Translation: CAE11866.1. Different initiation.
IPI	IPI00179169. IPI00333327. IPI00401005. IPI00401006. IPI00401008. IPI01017877.
RefSeq	NP_065099.3. NM_020366.3.
UniGene	Hs.126035.
3D structure databases
ProteinModelPortal	Q96KN7.
SMR	Q96KN7. Positions 621-755, 799-909.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000382895.
PTM databases
PhosphoSite	Q96KN7.
Polymorphism databases
DMDM	296452882.
Proteomic databases
PaxDb	Q96KN7.
PRIDE	Q96KN7.
Protocols and materials databases
DNASU	57096.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000307974; ENSP00000309721; ENSG00000092200. ENST00000382933; ENSP00000372391; ENSG00000092200. ENST00000400017; ENSP00000382895; ENSG00000092200.
GeneID	57096.
KEGG	hsa:57096.
UCSC	uc001wag.3. human. uc001wai.3. human. uc001wal.3. human. uc010aim.3. human.
Organism-specific databases
CTD	57096.
GeneCards	GC14P021756.
HGNC	HGNC:13436. RPGRIP1.
HPA	HPA042955.
MIM	605446. gene. 608194. phenotype. 613826. phenotype.
neXtProt	NX_Q96KN7.
Orphanet	1872. Cone rod dystrophy. 65. Leber congenital amaurosis. 564. Meckel syndrome.
PharmGKB	PA34657.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG117461.
HOVERGEN	HBG060744.
InParanoid	Q96KN7.
KO	K16512.
OMA	EPGSYLG.
OrthoDB	EOG4933H8.
Gene expression databases
ArrayExpress	Q96KN7.
Bgee	Q96KN7.
CleanEx	HS_RPGRIP1.
Genevestigator	Q96KN7.
GermOnline	ENSG00000092200. Homo sapiens.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR021656. DUF3250. [Graphical view]
Pfam	PF11618. DUF3250. 1 hit. [Graphical view]
SMART	SM00239. C2. 1 hit. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 1 hit.
PROSITE	PS50004. C2. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57096.
NextBio	62917.
SOURCE	Search...

Entry information

Entry name

RPGR1_HUMAN

Accession

Primary (citable) accession number: Q96KN7
Secondary accession number(s): Q7Z2W6 , Q8IXV5, Q96QA8, Q9HB94, Q9HB95, Q9HBK6, Q9NR40

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.