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Q96KN7

- RPGR1_HUMAN

UniProt

Q96KN7 - RPGR1_HUMAN

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Protein

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Gene

RPGRIP1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. eye photoreceptor cell development Source: Ensembl
  2. response to stimulus Source: UniProtKB-KW
  3. retina development in camera-type eye Source: Ensembl
  4. visual perception Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:13436. RPGRIP1.

Subcellular locationi

Cell projectioncilium 1 Publication
Note: Situated between the axonemal microtubules and the plasma membrane.By similarity

GO - Cellular componenti

  1. axoneme Source: Ensembl
  2. nonmotile primary cilium Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti432 – 4321S → F Found in a patient with LCA6. 1 Publication
Corresponds to variant rs190985984 [ dbSNP | Ensembl ].
VAR_067184
Natural varianti601 – 6011S → W Found in a patient with LCA6. 1 Publication
Corresponds to variant rs3748360 [ dbSNP | Ensembl ].
VAR_067185
Natural varianti631 – 6311H → P in LCA6. 1 Publication
VAR_067186
Natural varianti746 – 7461G → E in LCA6. 1 Publication
VAR_017833
Natural varianti1057 – 10571H → L Found in a patient associated with LCA6. 1 Publication
Corresponds to variant rs201521970 [ dbSNP | Ensembl ].
VAR_067187
Natural varianti1114 – 11141D → G in LCA6; no effect on interaction with RPGR. 1 Publication
Corresponds to variant rs17103671 [ dbSNP | Ensembl ].
VAR_017836
Natural varianti1130 – 11301E → Q Found in a patient with LCA6. 1 Publication
VAR_067188
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti547 – 5471A → S in CORD13. 2 Publications
Corresponds to variant rs10151259 [ dbSNP | Ensembl ].
VAR_017831
Natural varianti827 – 8271R → L in CORD13. 1 Publication
Corresponds to variant rs28937883 [ dbSNP | Ensembl ].
VAR_017834
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.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1121 – 11211E → A: Nearly abolishes interaction with RPGR; when associated with A-1174 and A-1245. 1 Publication
Mutagenesisi1121 – 11211E → K: Decreases interaction with RPGR. 1 Publication
Mutagenesisi1174 – 11741H → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1245. 1 Publication
Mutagenesisi1174 – 11741H → D: Abolishes interaction with RPGR. 1 Publication
Mutagenesisi1245 – 12451E → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1174. 1 Publication
Mutagenesisi1245 – 12451E → K: No effect on interaction with RPGR. 1 Publication

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12861286X-linked retinitis pigmentosa GTPase regulator-interacting protein 1PRO_0000097432Add
BLAST

Proteomic databases

MaxQBiQ96KN7.
PaxDbiQ96KN7.
PRIDEiQ96KN7.

PTM databases

PhosphoSiteiQ96KN7.

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

BgeeiQ96KN7.
CleanExiHS_RPGRIP1.
ExpressionAtlasiQ96KN7. baseline and differential.
GenevestigatoriQ96KN7.

Organism-specific databases

HPAiHPA042955.

Interactioni

Subunit structurei

Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR. Interacts with NPHP4. Interacts with NEK4.By similarity5 Publications

Protein-protein interaction databases

BioGridi121364. 4 interactions.
STRINGi9606.ENSP00000382895.

Structurei

Secondary structure

1
1286
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi1117 – 112711Combined sources
Helixi1132 – 11354Combined sources
Beta strandi1141 – 11455Combined sources
Helixi1153 – 11564Combined sources
Beta strandi1171 – 118010Combined sources
Turni1183 – 11853Combined sources
Helixi1187 – 119711Combined sources
Beta strandi1204 – 121310Combined sources
Helixi1220 – 12223Combined sources
Beta strandi1224 – 12329Combined sources
Helixi1233 – 12397Combined sources
Beta strandi1246 – 12516Combined sources
Turni1253 – 12553Combined sources
Beta strandi1258 – 126811Combined sources
Helixi1270 – 128213Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4QAMX-ray1.83B1091-1286[»]
ProteinModelPortaliQ96KN7.
SMRiQ96KN7. Positions 621-755, 1097-1283.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini801 – 89090C2Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1091 – 1281191Interaction with RPGR1 PublicationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili294 – 584291Sequence AnalysisAdd
BLAST

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

eggNOGiNOG117461.
GeneTreeiENSGT00520000055620.
HOVERGENiHBG060744.
InParanoidiQ96KN7.
KOiK16512.
OMAiAMMTKAD.
PhylomeDBiQ96KN7.
TreeFamiTF328883.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR021656. DUF3250.
[Graphical view]
PfamiPF11618. DUF3250. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

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 CAE11866.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti539 – 5391Missing in AAG10246. (PubMed:10958648)Curated
Sequence conflicti554 – 5552HK → SQR in AAG10246. (PubMed:10958648)Curated
Sequence conflicti611 – 6111G → R in CAE11866. (PubMed:17974005)Curated
Sequence conflicti1159 – 11591P → L in CAE11866. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321M → L.1 Publication
VAR_065720
Natural varianti96 – 961P → Q.1 Publication
Corresponds to variant rs1040904 [ dbSNP | Ensembl ].
VAR_057772
Natural varianti135 – 1351S → R.1 Publication
VAR_065721
Natural varianti192 – 1921K → E.1 Publication
Corresponds to variant rs6571751 [ dbSNP | Ensembl ].
VAR_017830
Natural varianti318 – 3181A → V in a patient with primary open angle glaucoma. 1 Publication
VAR_065722
Natural varianti363 – 3631R → T in a patient with normal tension glaucoma. 1 Publication
VAR_065723
Natural varianti432 – 4321S → F Found in a patient with LCA6. 1 Publication
Corresponds to variant rs190985984 [ dbSNP | Ensembl ].
VAR_067184
Natural varianti547 – 5471A → S in CORD13. 2 Publications
Corresponds to variant rs10151259 [ dbSNP | Ensembl ].
VAR_017831
Natural varianti585 – 5851P → S.1 Publication
Corresponds to variant rs147586703 [ dbSNP | Ensembl ].
VAR_065724
Natural varianti589 – 5891Q → H Does not affect the interaction with NPHP4. 1 Publication
Corresponds to variant rs34067949 [ dbSNP | Ensembl ].
VAR_065725
Natural varianti598 – 5981R → Q Found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4. 1 Publication
Corresponds to variant rs74034910 [ dbSNP | Ensembl ].
VAR_065726
Natural varianti601 – 6011S → L.
Corresponds to variant rs3748360 [ dbSNP | Ensembl ].
VAR_017832
Natural varianti601 – 6011S → W Found in a patient with LCA6. 1 Publication
Corresponds to variant rs3748360 [ dbSNP | Ensembl ].
VAR_067185
Natural varianti603 – 6031C → S.1 Publication
VAR_065727
Natural varianti631 – 6311H → P in LCA6. 1 Publication
VAR_067186
Natural varianti635 – 6351A → G in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 Publication
VAR_065728
Natural varianti638 – 6381T → I.1 Publication
VAR_065729
Natural varianti746 – 7461G → E in LCA6. 1 Publication
VAR_017833
Natural varianti764 – 7641A → V Does not affect the interaction with NPHP4. 1 Publication
VAR_065730
Natural varianti806 – 8061T → I in a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4. 1 Publication
Corresponds to variant rs142796310 [ dbSNP | Ensembl ].
VAR_065731
Natural varianti812 – 8121R → H Does not affect the interaction with NPHP4. 1 Publication
VAR_065732
Natural varianti814 – 8141R → L.1 Publication
VAR_065733
Natural varianti827 – 8271R → L in CORD13. 1 Publication
Corresponds to variant rs28937883 [ dbSNP | Ensembl ].
VAR_017834
Natural varianti837 – 8371A → G in a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4. 1 Publication
VAR_065734
Natural varianti838 – 8381I → V in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 Publication
VAR_065735
Natural varianti841 – 8411A → T.1 Publication
VAR_065736
Natural varianti852 – 8521R → Q.1 Publication
Corresponds to variant rs181758389 [ dbSNP | Ensembl ].
VAR_065737
Natural varianti883 – 8831G → D.1 Publication
VAR_065738
Natural varianti960 – 9601A → P.
Corresponds to variant rs35810926 [ dbSNP | Ensembl ].
VAR_057773
Natural varianti1033 – 10331E → Q.4 Publications
Corresponds to variant rs3748361 [ dbSNP | Ensembl ].
VAR_017835
Natural varianti1057 – 10571H → L Found in a patient associated with LCA6. 1 Publication
Corresponds to variant rs201521970 [ dbSNP | Ensembl ].
VAR_067187
Natural varianti1114 – 11141D → G in LCA6; no effect on interaction with RPGR. 1 Publication
Corresponds to variant rs17103671 [ dbSNP | Ensembl ].
VAR_017836
Natural varianti1130 – 11301E → Q Found in a patient with LCA6. 1 Publication
VAR_067188
Natural varianti1240 – 12401G → E.
Corresponds to variant rs34725281 [ dbSNP | Ensembl ].
VAR_057774

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 641641Missing in isoform 3. 1 PublicationVSP_009522Add
BLAST
Alternative sequencei1 – 617617Missing in isoform 2. 1 PublicationVSP_009521Add
BLAST
Alternative sequencei1 – 384384Missing in isoform 5 and isoform 6. 1 PublicationVSP_009520Add
BLAST
Alternative sequencei1 – 358358Missing in isoform 4. 1 PublicationVSP_009519Add
BLAST
Alternative sequencei359 – 38325EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4. 1 PublicationVSP_009523Add
BLAST
Alternative sequencei588 – 903316Missing in isoform 4. 1 PublicationVSP_009524Add
BLAST
Alternative sequencei618 – 6236ISLLHQ → MTFQHL in isoform 2. 1 PublicationVSP_009525
Alternative sequencei642 – 67332LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3. 1 PublicationVSP_009526Add
BLAST
Alternative sequencei966 – 1286321Missing in isoform 6. 1 PublicationVSP_009527Add
BLAST

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]
XP_006720272.1. XM_006720209.1. [Q96KN7-4]
UniGeneiHs.126035.

Genome annotation databases

EnsembliENST00000382933; ENSP00000372391; ENSG00000092200. [Q96KN7-4]
ENST00000400017; ENSP00000382895; ENSG00000092200. [Q96KN7-1]
GeneIDi57096.
KEGGihsa:57096.
UCSCiuc001wag.3. human. [Q96KN7-1]
uc001wai.3. human. [Q96KN7-4]
uc001wal.3. human. [Q96KN7-3]
uc010aim.3. human. [Q96KN7-2]

Polymorphism databases

DMDMi296452882.

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.
CCDSi CCDS45080.1. [Q96KN7-1 ]
RefSeqi NP_065099.3. NM_020366.3. [Q96KN7-1 ]
XP_006720272.1. XM_006720209.1. [Q96KN7-4 ]
UniGenei Hs.126035.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4QAM X-ray 1.83 B 1091-1286 [» ]
ProteinModelPortali Q96KN7.
SMRi Q96KN7. Positions 621-755, 1097-1283.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121364. 4 interactions.
STRINGi 9606.ENSP00000382895.

PTM databases

PhosphoSitei Q96KN7.

Polymorphism databases

DMDMi 296452882.

Proteomic databases

MaxQBi Q96KN7.
PaxDbi Q96KN7.
PRIDEi Q96KN7.

Protocols and materials databases

DNASUi 57096.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382933 ; ENSP00000372391 ; ENSG00000092200 . [Q96KN7-4 ]
ENST00000400017 ; ENSP00000382895 ; ENSG00000092200 . [Q96KN7-1 ]
GeneIDi 57096.
KEGGi hsa:57096.
UCSCi uc001wag.3. human. [Q96KN7-1 ]
uc001wai.3. human. [Q96KN7-4 ]
uc001wal.3. human. [Q96KN7-3 ]
uc010aim.3. human. [Q96KN7-2 ]

Organism-specific databases

CTDi 57096.
GeneCardsi GC14P021756.
GeneReviewsi RPGRIP1.
HGNCi HGNC:13436. RPGRIP1.
HPAi HPA042955.
MIMi 605446. gene.
608194. phenotype.
613826. phenotype.
neXtProti NX_Q96KN7.
Orphaneti 1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
564. Meckel syndrome.
PharmGKBi PA34657.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG117461.
GeneTreei ENSGT00520000055620.
HOVERGENi HBG060744.
InParanoidi Q96KN7.
KOi K16512.
OMAi AMMTKAD.
PhylomeDBi Q96KN7.
TreeFami TF328883.

Miscellaneous databases

GeneWikii RPGRIP1.
GenomeRNAii 57096.
NextBioi 62917.
PROi Q96KN7.
SOURCEi Search...

Gene expression databases

Bgeei Q96KN7.
CleanExi HS_RPGRIP1.
ExpressionAtlasi Q96KN7. baseline and differential.
Genevestigatori Q96KN7.

Family and domain databases

Gene3Di 2.60.40.150. 1 hit.
InterProi IPR000008. C2_dom.
IPR021656. DUF3250.
[Graphical view ]
Pfami PF11618. DUF3250. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 1 hit.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 2 hits.
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Publicationsi

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  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. 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. 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. "The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase."
    Coene K.L., Mans D.A., Boldt K., Gloeckner C.J., van Reeuwijk J., Bolat E., Roosing S., Letteboer S.J., Peters T.A., Cremers F.P., Ueffing M., Roepman R.
    Hum. Mol. Genet. 20:3592-3605(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH RPGR AND NEK4.
  10. "C2 domains as protein-protein interaction modules in the ciliary transition zone."
    Remans K., Burger M., Vetter I.R., Wittinghofer A.
    Cell Rep. 8:1-9(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.83 ANGSTROMS) OF 1091-1286 IN COMPLEX WITH RPGR, INTERACTION WITH RPGR, REGION, MUTAGENESIS OF GLU-1121; HIS-1174 AND GLU-1245, CHARACTERIZATION OF VARIANT LCA6 GLY-1114, DOMAIN.
  11. "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.
  12. "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.
  13. "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.

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 26, 2014
This is version 115 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

External Data

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