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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

Essential for RPGR function and is also required for normal disk morphogenesis By similarity.

GO - Molecular functioni

  1. protein binding Source: UniProtKB

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 By similarity
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.

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 1
PRO_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

ArrayExpressiQ96KN7.
BgeeiQ96KN7.
CleanExiHS_RPGRIP1.
GenevestigatoriQ96KN7.

Organism-specific databases

HPAiHPA042955.

Interactioni

Subunit structurei

Forms homodimers and elongated homopolymers By similarity. Interacts with RPGR. Interacts with NPHP4.3 Publications

Protein-protein interaction databases

BioGridi121364. 3 interactions.
STRINGi9606.ENSP00000382895.

Structurei

3D structure databases

ProteinModelPortaliQ96KN7.
SMRiQ96KN7. Positions 621-755, 799-925.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini801 – 89090C2
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni952 – 1281330Interaction with RPGR
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili294 – 584291 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the RPGRIP1 family.
Contains 1 C2 domain.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG117461.
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

MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF     50
FRLREDHMLV KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET 100
ARRGQKAGWR QRLSMHQRPQ MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL 150
HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH ATNENRGEVA SKPSELVSGS 200
NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS PEKMWPKDEN 250
FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV 300
QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV 350
SILQMTLKEF QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE 400
LIAEQLQQQV SQLQDQLDAE LEDKRKVLLE LSREKAQNED LKLEVTNILQ 450
KHKQEVELLQ NAATISQPPD RQSEPATHPA VLQENTQIEP SEPKNQEEKK 500
LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL EAMMTKADND 550
NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL 600
SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP 650
TTFCTYSFYD FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR 700
LDIHQAMASE HSTLAAGWIC FDRVLETVEK VHGLATLIGA GGEEFGVLEY 750
WMRLRFPIKP SLQACNKRKK AQVYLSTDVL GGRKAQEEEF RSESWEPQNE 800
LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP ASNNPYFRDQ 850
ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE 900
SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS 950
SKISSEEEKA SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV 1000
SYSRRKHGKR IGVQGKNRME YLSLNILNGN TPEQVNYTEW KFSETNSFIG 1050
DGFKNQHEEE EMTLSHSALK QKEPLHPVND KESSEQGSEV SEAQTTDSDD 1100
VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK QVYVEYKFYD 1150
LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ 1200
DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI 1250
VSPEDLATPI GRLKVSLQAA AVLHAIYKEM TEDLFS 1286
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.

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. 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.
VSP_009522Add
BLAST
Alternative sequencei1 – 617617Missing in isoform 2.
VSP_009521Add
BLAST
Alternative sequencei1 – 384384Missing in isoform 5 and isoform 6.
VSP_009520Add
BLAST
Alternative sequencei1 – 358358Missing in isoform 4.
VSP_009519Add
BLAST
Alternative sequencei359 – 38325EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4.
VSP_009523Add
BLAST
Alternative sequencei588 – 903316Missing in isoform 4.
VSP_009524Add
BLAST
Alternative sequencei618 – 6236ISLLHQ → MTFQHL in isoform 2.
VSP_009525
Alternative sequencei642 – 67332LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3.
VSP_009526Add
BLAST
Alternative sequencei966 – 1286321Missing in isoform 6.
VSP_009527Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti539 – 5391Missing in AAG10246. 1 Publication
Sequence conflicti554 – 5552HK → SQR in AAG10246. 1 Publication
Sequence conflicti611 – 6111G → R in CAE11866. 1 Publication
Sequence conflicti1159 – 11591P → L in CAE11866. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000307974; ENSP00000309721; ENSG00000092200. [Q96KN7-3]
ENST00000382933; 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:
EMBL
GenBank
DDBJ
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

ProteinModelPortali Q96KN7.
SMRi Q96KN7. Positions 621-755, 799-925.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121364. 3 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 ENST00000307974 ; ENSP00000309721 ; ENSG00000092200 . [Q96KN7-3 ]
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.
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

ArrayExpressi Q96KN7.
Bgeei Q96KN7.
CleanExi HS_RPGRIP1.
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.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. "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.

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: July 9, 2014
This is version 112 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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