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Q96KN7

- RPGR1_HUMAN

UniProt

Q96KN7 - RPGR1_HUMAN

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
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    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

    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. 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.

    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

    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.By similarity3 Publications

    Protein-protein interaction databases

    BioGridi121364. 3 interactions.
    STRINGi9606.ENSP00000382895.

    Structurei

    3D structure databases

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

    Family & Domainsi

    Domains and Repeats

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

    Region

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

    Coiled coil

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

    Sequence similaritiesi

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

    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.

    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. 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:
    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

    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:
    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 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

    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: October 1, 2014
    This is version 113 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

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