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Protein

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Gene

RPGRIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Short name:
RPGR-interacting protein 1
Gene namesi
Name:RPGRIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:13436. RPGRIP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 6 (LCA6)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613826
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067184432S → F Found in a patient with LCA6. 1 PublicationCorresponds to variant rs190985984dbSNPEnsembl.1
Natural variantiVAR_067185601S → W Found in a patient with LCA6. 1 PublicationCorresponds to variant rs3748360dbSNPEnsembl.1
Natural variantiVAR_067186631H → P in LCA6. 1 Publication1
Natural variantiVAR_017833746G → E in LCA6. 1 PublicationCorresponds to variant rs61751268dbSNPEnsembl.1
Natural variantiVAR_0671871057H → L Found in a patient associated with LCA6. 1 PublicationCorresponds to variant rs201521970dbSNPEnsembl.1
Natural variantiVAR_0178361114D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant rs17103671dbSNPEnsembl.1
Natural variantiVAR_0671881130E → Q Found in a patient with LCA6. 1 Publication1
Natural variantiVAR_0768231211V → E in LCA6. 2 Publications1
Cone-rod dystrophy 13 (CORD13)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:608194
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017831547A → S in CORD13. 2 PublicationsCorresponds to variant rs10151259dbSNPEnsembl.1
Natural variantiVAR_017834827R → L in CORD13. 1 PublicationCorresponds to variant rs28937883dbSNPEnsembl.1

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 (PubMed:21224891).

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1121E → A: Nearly abolishes interaction with RPGR; when associated with A-1174 and A-1245. 1 Publication1
Mutagenesisi1121E → K: Decreases interaction with RPGR. 1 Publication1
Mutagenesisi1174H → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1245. 1 Publication1
Mutagenesisi1174H → D: Abolishes interaction with RPGR. 1 Publication1
Mutagenesisi1245E → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1174. 1 Publication1
Mutagenesisi1245E → K: No effect on interaction with RPGR. 1 Publication1

Keywords - Diseasei

Ciliopathy, Cone-rod dystrophy, Disease mutation, Glaucoma, Leber congenital amaurosis

Organism-specific databases

DisGeNETi57096.
MalaCardsiRPGRIP1.
MIMi608194. phenotype.
613826. phenotype.
OpenTargetsiENSG00000092200.
Orphaneti1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
564. Meckel syndrome.
PharmGKBiPA34657.

Polymorphism and mutation databases

BioMutaiRPGRIP1.
DMDMi296452882.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000974321 – 1286X-linked retinitis pigmentosa GTPase regulator-interacting protein 1Add BLAST1286

Proteomic databases

MaxQBiQ96KN7.
PaxDbiQ96KN7.
PeptideAtlasiQ96KN7.
PRIDEiQ96KN7.

PTM databases

iPTMnetiQ96KN7.
PhosphoSitePlusiQ96KN7.

Expressioni

Tissue specificityi

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.3 Publications

Gene expression databases

BgeeiENSG00000092200.
CleanExiHS_RPGRIP1.
ExpressionAtlasiQ96KN7. baseline and differential.
GenevisibleiQ96KN7. HS.

Organism-specific databases

HPAiHPA042955.

Interactioni

Subunit structurei

Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR. Interacts with NPHP4. Interacts with NEK4. Interacts with SPATA7 (PubMed:25398945). Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501).By similarity7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AENQ8WTP83EBI-1050213,EBI-8637627
CBX8Q9HC523EBI-1050213,EBI-712912
CCDC146Q8IYE0-23EBI-1050213,EBI-10247802
CHCHD3Q9NX633EBI-1050213,EBI-743375
CSPP1Q1MSJ5-23EBI-1050213,EBI-10239155
DPPA4Q7L1903EBI-1050213,EBI-710457
FAM74A6Q5TZK33EBI-1050213,EBI-10247271
FEM1CQ96JP03EBI-1050213,EBI-2515330
GATAD2BQ8WXI93EBI-1050213,EBI-923440
HEYLQ9NQ873EBI-1050213,EBI-751092
MAGEB2O154793EBI-1050213,EBI-1057615
NPHP4O75161-19EBI-12499377,EBI-12499345
RPGRQ928349EBI-1050213,EBI-6558417
RPP25LQ8N5L83EBI-1050213,EBI-10189722
SCNM1Q9BWG63EBI-1050213,EBI-748391
TBC1D7Q9P0N93EBI-1050213,EBI-3258000
TFPTG5E9B53EBI-1050213,EBI-10178002
TRIB3Q96RU73EBI-1050213,EBI-492476
ZNF337Q9Y3M93EBI-1050213,EBI-714987
ZNF417Q8TAU33EBI-1050213,EBI-740727
ZNF564Q8TBZ83EBI-1050213,EBI-10273713

Protein-protein interaction databases

BioGridi121364. 58 interactors.
IntActiQ96KN7. 56 interactors.
STRINGi9606.ENSP00000382895.

Structurei

Secondary structure

11286
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi1117 – 1127Combined sources11
Helixi1132 – 1135Combined sources4
Beta strandi1141 – 1145Combined sources5
Helixi1153 – 1156Combined sources4
Beta strandi1171 – 1180Combined sources10
Turni1183 – 1185Combined sources3
Helixi1187 – 1197Combined sources11
Beta strandi1204 – 1213Combined sources10
Helixi1220 – 1222Combined sources3
Beta strandi1224 – 1232Combined sources9
Helixi1233 – 1239Combined sources7
Beta strandi1246 – 1251Combined sources6
Turni1253 – 1255Combined sources3
Beta strandi1258 – 1268Combined sources11
Helixi1270 – 1282Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QAMX-ray1.83B1091-1286[»]
ProteinModelPortaliQ96KN7.
SMRiQ96KN7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini801 – 890C2Add BLAST90

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1091 – 1281Interaction with RPGR1 PublicationAdd BLAST191

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili294 – 584Sequence analysisAdd BLAST291

Domaini

The C2 domain does not bind calcium ions, and does not bind phosphoinositides.1 Publication

Sequence similaritiesi

Belongs to the RPGRIP1 family.Curated
Contains 1 C2 domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGZN. Eukaryota.
ENOG410YNUX. LUCA.
GeneTreeiENSGT00520000055620.
HOVERGENiHBG060744.
InParanoidiQ96KN7.
KOiK16512.
OMAiLEAMMTK.
OrthoDBiEOG091G03K7.
PhylomeDBiQ96KN7.
TreeFamiTF328883.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR021656. C2-C2_1.
IPR000008. C2_dom.
IPR031134. RPGRIP1.
IPR031139. RPGRIP1_fam.
[Graphical view]
PANTHERiPTHR14240. PTHR14240. 1 hit.
PTHR14240:SF3. PTHR14240:SF3. 1 hit.
PfamiPF00168. C2. 1 hit.
PF11618. C2-C2_1. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96KN7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF
60 70 80 90 100
FRLREDHMLV KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET
110 120 130 140 150
ARRGQKAGWR QRLSMHQRPQ MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL
160 170 180 190 200
HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH ATNENRGEVA SKPSELVSGS
210 220 230 240 250
NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS PEKMWPKDEN
260 270 280 290 300
FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV
310 320 330 340 350
QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV
360 370 380 390 400
SILQMTLKEF QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE
410 420 430 440 450
LIAEQLQQQV SQLQDQLDAE LEDKRKVLLE LSREKAQNED LKLEVTNILQ
460 470 480 490 500
KHKQEVELLQ NAATISQPPD RQSEPATHPA VLQENTQIEP SEPKNQEEKK
510 520 530 540 550
LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL EAMMTKADND
560 570 580 590 600
NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL
610 620 630 640 650
SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP
660 670 680 690 700
TTFCTYSFYD FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR
710 720 730 740 750
LDIHQAMASE HSTLAAGWIC FDRVLETVEK VHGLATLIGA GGEEFGVLEY
760 770 780 790 800
WMRLRFPIKP SLQACNKRKK AQVYLSTDVL GGRKAQEEEF RSESWEPQNE
810 820 830 840 850
LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP ASNNPYFRDQ
860 870 880 890 900
ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE
910 920 930 940 950
SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS
960 970 980 990 1000
SKISSEEEKA SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV
1010 1020 1030 1040 1050
SYSRRKHGKR IGVQGKNRME YLSLNILNGN TPEQVNYTEW KFSETNSFIG
1060 1070 1080 1090 1100
DGFKNQHEEE EMTLSHSALK QKEPLHPVND KESSEQGSEV SEAQTTDSDD
1110 1120 1130 1140 1150
VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK QVYVEYKFYD
1160 1170 1180 1190 1200
LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ
1210 1220 1230 1240 1250
DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI
1260 1270 1280
VSPEDLATPI GRLKVSLQAA AVLHAIYKEM TEDLFS
Length:1,286
Mass (Da):146,682
Last modified:May 18, 2010 - v2
Checksum:i00AC1C2A0AC82253
GO
Isoform 2 (identifier: Q96KN7-2) [UniParc]FASTAAdd to basket
Also known as: a

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

Show »
Length:669
Mass (Da):76,372
Checksum:iF27A364596947FA9
GO
Isoform 3 (identifier: Q96KN7-3) [UniParc]FASTAAdd to basket
Also known as: b

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

Show »
Length:645
Mass (Da):74,179
Checksum:i231F8AE6557EEEDB
GO
Isoform 4 (identifier: Q96KN7-4) [UniParc]FASTAAdd to basket

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

Show »
Length:612
Mass (Da):70,051
Checksum:iC444C7EBA35D4918
GO
Isoform 5 (identifier: Q96KN7-5) [UniParc]FASTAAdd to basket

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

Show »
Length:902
Mass (Da):103,124
Checksum:i2A9013EC2A8319CD
GO
Isoform 6 (identifier: Q96KN7-6) [UniParc]FASTAAdd to basket

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

Show »
Length:581
Mass (Da):66,319
Checksum:i481BE9E573F48A33
GO

Sequence cautioni

The sequence CAE11866 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti539Missing in AAG10246 (PubMed:10958648).Curated1
Sequence conflicti554 – 555HK → SQR in AAG10246 (PubMed:10958648).Curated2
Sequence conflicti611G → R in CAE11866 (PubMed:17974005).Curated1
Sequence conflicti1159P → L in CAE11866 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06572032M → L.1 Publication1
Natural variantiVAR_05777296P → Q.1 PublicationCorresponds to variant rs1040904dbSNPEnsembl.1
Natural variantiVAR_065721135S → R.1 Publication1
Natural variantiVAR_017830192K → E.1 PublicationCorresponds to variant rs6571751dbSNPEnsembl.1
Natural variantiVAR_065722318A → V in a patient with primary open angle glaucoma. 1 Publication1
Natural variantiVAR_065723363R → T in a patient with normal tension glaucoma. 1 Publication1
Natural variantiVAR_067184432S → F Found in a patient with LCA6. 1 PublicationCorresponds to variant rs190985984dbSNPEnsembl.1
Natural variantiVAR_017831547A → S in CORD13. 2 PublicationsCorresponds to variant rs10151259dbSNPEnsembl.1
Natural variantiVAR_065724585P → S.1 PublicationCorresponds to variant rs147586703dbSNPEnsembl.1
Natural variantiVAR_065725589Q → H Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant rs34067949dbSNPEnsembl.1
Natural variantiVAR_065726598R → Q Found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant rs74034910dbSNPEnsembl.1
Natural variantiVAR_017832601S → L.Corresponds to variant rs3748360dbSNPEnsembl.1
Natural variantiVAR_067185601S → W Found in a patient with LCA6. 1 PublicationCorresponds to variant rs3748360dbSNPEnsembl.1
Natural variantiVAR_065727603C → S.1 Publication1
Natural variantiVAR_067186631H → P in LCA6. 1 Publication1
Natural variantiVAR_065728635A → G in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant rs200325360dbSNPEnsembl.1
Natural variantiVAR_065729638T → I.1 Publication1
Natural variantiVAR_017833746G → E in LCA6. 1 PublicationCorresponds to variant rs61751268dbSNPEnsembl.1
Natural variantiVAR_065730764A → V Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant rs758652031dbSNPEnsembl.1
Natural variantiVAR_065731806T → I in a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4. 1 PublicationCorresponds to variant rs142796310dbSNPEnsembl.1
Natural variantiVAR_065732812R → H Does not affect the interaction with NPHP4. 1 Publication1
Natural variantiVAR_065733814R → L.1 PublicationCorresponds to variant rs372647080dbSNPEnsembl.1
Natural variantiVAR_017834827R → L in CORD13. 1 PublicationCorresponds to variant rs28937883dbSNPEnsembl.1
Natural variantiVAR_065734837A → G in a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant rs373515194dbSNPEnsembl.1
Natural variantiVAR_065735838I → V in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant rs772480252dbSNPEnsembl.1
Natural variantiVAR_065736841A → T.1 Publication1
Natural variantiVAR_065737852R → Q.1 PublicationCorresponds to variant rs181758389dbSNPEnsembl.1
Natural variantiVAR_076792876D → G Impairs interaction with NPHP4. 1 Publication1
Natural variantiVAR_065738883G → D.1 Publication1
Natural variantiVAR_057773960A → P.Corresponds to variant rs35810926dbSNPEnsembl.1
Natural variantiVAR_0178351033E → Q.4 PublicationsCorresponds to variant rs3748361dbSNPEnsembl.1
Natural variantiVAR_0671871057H → L Found in a patient associated with LCA6. 1 PublicationCorresponds to variant rs201521970dbSNPEnsembl.1
Natural variantiVAR_0178361114D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant rs17103671dbSNPEnsembl.1
Natural variantiVAR_0671881130E → Q Found in a patient with LCA6. 1 Publication1
Natural variantiVAR_0768231211V → E in LCA6. 2 Publications1
Natural variantiVAR_0577741240G → E.Corresponds to variant rs34725281dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0095221 – 641Missing in isoform 3. 1 PublicationAdd BLAST641
Alternative sequenceiVSP_0095211 – 617Missing in isoform 2. 1 PublicationAdd BLAST617
Alternative sequenceiVSP_0095201 – 384Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST384
Alternative sequenceiVSP_0095191 – 358Missing in isoform 4. 1 PublicationAdd BLAST358
Alternative sequenceiVSP_009523359 – 383EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_009524588 – 903Missing in isoform 4. 1 PublicationAdd BLAST316
Alternative sequenceiVSP_009525618 – 623ISLLHQ → MTFQHL in isoform 2. 1 Publication6
Alternative sequenceiVSP_009526642 – 673LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_009527966 – 1286Missing in isoform 6. 1 PublicationAdd BLAST321

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS45080.1. [Q96KN7-1]
RefSeqiNP_065099.3. NM_020366.3. [Q96KN7-1]
UniGeneiHs.126035.

Genome annotation databases

EnsembliENST00000382933; ENSP00000372391; ENSG00000092200. [Q96KN7-4]
ENST00000400017; ENSP00000382895; ENSG00000092200. [Q96KN7-1]
GeneIDi57096.
KEGGihsa:57096.
UCSCiuc001wag.4. human. [Q96KN7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS45080.1. [Q96KN7-1]
RefSeqiNP_065099.3. NM_020366.3. [Q96KN7-1]
UniGeneiHs.126035.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QAMX-ray1.83B1091-1286[»]
ProteinModelPortaliQ96KN7.
SMRiQ96KN7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121364. 58 interactors.
IntActiQ96KN7. 56 interactors.
STRINGi9606.ENSP00000382895.

PTM databases

iPTMnetiQ96KN7.
PhosphoSitePlusiQ96KN7.

Polymorphism and mutation databases

BioMutaiRPGRIP1.
DMDMi296452882.

Proteomic databases

MaxQBiQ96KN7.
PaxDbiQ96KN7.
PeptideAtlasiQ96KN7.
PRIDEiQ96KN7.

Protocols and materials databases

DNASUi57096.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382933; ENSP00000372391; ENSG00000092200. [Q96KN7-4]
ENST00000400017; ENSP00000382895; ENSG00000092200. [Q96KN7-1]
GeneIDi57096.
KEGGihsa:57096.
UCSCiuc001wag.4. human. [Q96KN7-1]

Organism-specific databases

CTDi57096.
DisGeNETi57096.
GeneCardsiRPGRIP1.
GeneReviewsiRPGRIP1.
HGNCiHGNC:13436. RPGRIP1.
HPAiHPA042955.
MalaCardsiRPGRIP1.
MIMi605446. gene.
608194. phenotype.
613826. phenotype.
neXtProtiNX_Q96KN7.
OpenTargetsiENSG00000092200.
Orphaneti1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
564. Meckel syndrome.
PharmGKBiPA34657.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGZN. Eukaryota.
ENOG410YNUX. LUCA.
GeneTreeiENSGT00520000055620.
HOVERGENiHBG060744.
InParanoidiQ96KN7.
KOiK16512.
OMAiLEAMMTK.
OrthoDBiEOG091G03K7.
PhylomeDBiQ96KN7.
TreeFamiTF328883.

Miscellaneous databases

GeneWikiiRPGRIP1.
GenomeRNAii57096.
PROiQ96KN7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092200.
CleanExiHS_RPGRIP1.
ExpressionAtlasiQ96KN7. baseline and differential.
GenevisibleiQ96KN7. HS.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR021656. C2-C2_1.
IPR000008. C2_dom.
IPR031134. RPGRIP1.
IPR031139. RPGRIP1_fam.
[Graphical view]
PANTHERiPTHR14240. PTHR14240. 1 hit.
PTHR14240:SF3. PTHR14240:SF3. 1 hit.
PfamiPF00168. C2. 1 hit.
PF11618. C2-C2_1. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiRPGR1_HUMAN
AccessioniPrimary (citable) accession number: Q96KN7
Secondary accession number(s): Q7Z2W6
, Q8IXV5, Q96QA8, Q9HB94, Q9HB95, Q9HBK6, Q9NR40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.