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RPGRIP1 Gene

protein-coding   GIFtS: 57
GCID: GC14P021756

Retinitis Pigmentosa GTPase Regulator Interacting Protein...


(Previous symbol: RPGRIP)
  See RPGRIP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinitis Pigmentosa GTPase Regulator Interacting Protein 11 2     RGI12
RPGRIP1 2     RGRIP2
RPGR-Interacting Protein 12 3     RPGRIP1d2
CORD132 5     X-Linked Retinitis Pigmentosa GTPase Regulator-Interacting Protein 12
LCA62 5     

External Ids:    HGNC: 134361   Entrez Gene: 570962   Ensembl: ENSG000000922007   OMIM: 6054465   UniProtKB: Q96KN73   

Export aliases for RPGRIP1 gene to outside databases

Previous GC identifers: GC14P019128 GC14P015543 GC14P019746 GC14P020825 GC14P001876


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPGRIP1 Gene:
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is
a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive
congenital blindness. (provided by RefSeq, Oct 2008)

GeneCards Summary for RPGRIP1 Gene:
RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1) is a protein-coding gene. Diseases associated with RPGRIP1 include leber congenital amaurosis 6, and rpgrip1-related leber congenital amaurosis. An important paralog of this gene is RPGRIP1L.

UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7
Function: Essential for RPGR function and is also required for normal disk morphogenesis (By similarity)

Gene Wiki entry for RPGRIP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPGRIP1 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Cdc5   GATA-2   E2F-1   E2F   CP1C   CP1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RPGRIP1 promoter sequence
   Search Chromatin IP Primers for RPGRIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPGRIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

RPGRIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPGRIP1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P021756:  view genomic region     (about GC identifiers)

Start:
21,756,098 bp from pter      End:
21,819,460 bp from pter
Size:
63,363 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7 (See protein sequence)
Recommended Name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1  
Size: 1286 amino acids; 146682 Da
Subunit: Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR. Interacts with NPHP4
Sequence caution: Sequence=CAE11866.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7Z2W6 Q8IXV5 Q96QA8 Q9HB94 Q9HB95 Q9HBK6 Q9NR40
Alternative splicing: 6 isoforms:  Q96KN7-1   Q96KN7-2   Q96KN7-3   Q96KN7-4   Q96KN7-5   Q96KN7-6   

Explore the universe of human proteins at neXtProt for RPGRIP1: NX_Q96KN7

Explore proteomics data for RPGRIP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RPGRIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065099.3  
    ENSEMBL proteins: 
     ENSP00000450445   ENSP00000451219   ENSP00000382895   ENSP00000372391   ENSP00000452215  
     ENSP00000450662   ENSP00000451262   ENSP00000450426   ENSP00000451044   ENSP00000451719  
     ENSP00000206660   ENSP00000309721  

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    Cloud-Clone Corp. Proteins for RPGRIP1

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR021656 DUF3250
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q96KN7

    ProtoNet protein and cluster: Q96KN7

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7
    Similarity: Belongs to the RPGRIP1 family
    Similarity: Contains 1 C2 domain


    Find genes that share domains with RPGRIP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPGR1_HUMAN, Q96KN7
    Function: Essential for RPGR function and is also required for normal disk morphogenesis (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with RPGRIP1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RPGRIP1:
     Decreased mitotic index  Increased G1 DNA content 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rpgrip1):
     nervous system  vision/eye 

    Find genes that share phenotypes with RPGRIP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rpgrip1tm1Tili for RPGRIP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPGRIP1
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    miRTarBase miRNAs that target RPGRIP1:
    hsa-mir-26b-5p (MIRT029762)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RPGR1_HUMAN, Q96KN7: Cell projection, cilium (By similarity). Note=Situated between the axonemal microtubules and
    the plasma membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium ----
    GO:0005930axoneme IEA--
    GO:0031513nonmotile primary cilium IEA--

    Find genes that share ontologies with RPGRIP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPGRIP1
    Interactions:

        GeneGlobe Interaction Network for RPGRIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for RPGRIP1 (Q96KN73 ENSP000003828954) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPGRQ928343, ENSP000003677664I2D: score=2 STRING: ENSP00000367766
    NPHP4O751613, ENSP000003673984I2D: score=1 STRING: ENSP00000367398
    TFE3P195323, ENSP000003141294I2D: score=1 STRING: ENSP00000314129
    CEBPAP497153I2D: score=1 
    SRPXP785393I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0042462eye photoreceptor cell development IEA--
    GO:0050896response to stimulus IEA--
    GO:0060041retina development in camera-type eye IEA--

    Find genes that share ontologies with RPGRIP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RPGRIP1 (RPGR1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RPGRIP1 gene: 
    NM_020366.3  

    Unigene Cluster for RPGRIP1:

    Retinitis pigmentosa GTPase regulator interacting protein 1
    Hs.126035  [show with all ESTs]
    Unigene Representative Sequence: NM_020366
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556336 ENST00000557771(uc001waj.1 uc001wal.3) ENST00000400017(uc001wag.3)
    ENST00000554750 ENST00000382933(uc001wai.3) ENST00000557351 ENST00000553500
    ENST00000555322(uc010aim.3) ENST00000555587 ENST00000554303 ENST00000555489
    ENST00000553927(uc001wam.3) ENST00000557606 ENST00000206660(uc001wah.3 uc001wak.3)
    ENST00000307974
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RPGRIP1
      QuantiFast Probe-based Assays in human, mouse, rat RPGRIP1

    Additional mRNA sequence: 

    AF227257.1 AF260257.1 AF265666.1 AF265667.1 AJ417067.1 AK301780.1 AY914561.1 BC039089.1 

    9 DOTS entries:

    DT.100745756  DT.100745757  DT.95164266  DT.95164265  DT.409264  DT.120757021  DT.101955126  DT.120757038 
    DT.101972808 

    Selected AceView cDNA sequences (see all 30):

    NM_020366 AF265667 AL711852 BI829146 BU729630 BI826832 BC039089 AJ417067 
    AF265666 AF260257 AF227257 AA928161 BI825694 AI015922 BX491264 BX571740 
    BX646036 BX954021 AL712797 BU568229 AA782963 BP370518 AW593388 BF059358 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPGRIP1 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a ·
    SP1:                                -                                   -     -           -                       -                       -     -               
    SP2:                                                                                      -                       -                       -     -               
    SP3:                                                                                                                                      -     -     -         
    SP4:                                                                                                                                -     -                 -   
    SP5:                                                                                      -                       -                       -     -     -     -   

    ExUns: 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:  -     -     -     -                                                         


    ECgene alternative splicing isoforms for RPGRIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RPGRIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RPGRIP1 Expression
    About this image


    RPGRIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
             Photoreceptor-like cells
     
     NULL (Sensory Organs)
             Photoreceptor-like cells
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    RPGRIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPGRIP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.126035

    UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7
    Tissue specificity: Strong expression in retina, with weaker expression in testis. Expressed in other neurons such
    as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGRIP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RPGRIP1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpgrip11 , 5 retinitis pigmentosa GTPase regulator interacting protein more1, 5 77.13(n)1
    68.12(a)1
      14 (26.81 cM)5
    779451  NM_023879.31  NP_076368.11 
     521107045 
    lizard
    (Anolis carolinensis)
    Reptilia RPGRIP16
    retinitis pigmentosa GTPase regulator interacting ...
    39(a)
    1 ↔ 1
    GL343466.1(353349-381727)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rpgrip11 retinitis pigmentosa GTPase regulator interacting protein more 50.56(n)
    39.86(a)
      100497908  XM_002939928.2  XP_002939974.2 
    zebrafish
    (Danio rerio)
    Actinopterygii RPGRIP16
    retinitis pigmentosa GTPase regulator interacting ...
    27(a)
    1 ↔ 1
    24(7861908-7890778) ENSDARG00000076055
    worm
    (Caenorhabditis elegans)
    Secernentea mks-56
    Protein MKS-5, isoform a (mks-5) mRNA, complete cd...
    14(a)
    1 → many
    II(10720231-10729252) WBGene00007490


    ENSEMBL Gene Tree for RPGRIP1 (if available)
    TreeFam Gene Tree for RPGRIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPGRIP1 gene
    RPGRIP1L2  
    3 SIMAP similar genes for RPGRIP1 using alignment to 11 protein entries:     RPGR1_HUMAN (see all proteins):
    RBMS2    RHBG    RPGRIP1L

    Find genes that share paralogs with RPGRIP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RPGRIP1 (see all 1630)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs101512591,2,,4
    C,F,HCone-rod dystrophy 13 (CORD13)4 pathogenic12788597(+) CAAAAG/TCTGAC 2 A S mis1 ese321Minor allele frequency- T:0.09NS EA NA WA EU 3147
    rs289378831,2,,4
    CCone-rod dystrophy 13 (CORD13)4 pathogenic12792659(+) GTACCG/TCTTCT 2 R L mis1 ese30--------
    rs171036711,2,,4
    C,F,HLeber congenital amaurosis 6 (LCA6)4 pathogenic12809752(+) TCAGGA/GTTCAG 2 D G mis117Minor allele frequency- G:0.04NA NS EA WA EU 2525
    VAR_0178334
    Leber congenital amaurosis 6 (LCA6)4--see VAR_0178332 G E mis40--------
    VAR_0671864
    Leber congenital amaurosis 6 (LCA6)4--see VAR_0671862 H P mis40--------
    rs626468791,2
    Cuntested12767721(+) CTGGCC/TGGGAC 2 R W mis10--------
    rs10409041,2,,4
    C,Funtested12767752(+) GGCGCC/AGCTCT 2 /Q /P mis16Minor allele frequency- A:0.05NA CSA EU 623
    rs177925991,2
    C,F,Huntested12769240(+) CCTCCA/GTCGTT 2 P syn1 ese334Minor allele frequency- N:0.00NA EA NS WA EU 4016
    rs65717511,2,,4
    C,F,A,Huntested12769289(+) CCAGTA/GAACCC 2 K E mis1 ese331Minor allele frequency- G:0.45NA NS EA WA CSA EU 3554
    rs93229651,2
    C,F,A,Huntested12791368(+) CGACCG/ATTGTC 2 /P syn1 ese3107Minor allele frequency- A:0.14NS NA EA PA EU CA WA 7517

    HapMap Linkage Disequilibrium report for RPGRIP1 (21756098 - 21819460 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RPGRIP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748455CNV Deletion23290073
    esv2663580CNV Deletion23128226
    esv2748454CNV Deletion23290073
    esv2667349CNV Deletion23128226
    esv2647291CNV Deletion19546169
    nsv509527CNV Insertion20534489

    Human Gene Mutation Database (HGMD): RPGRIP1
    Locus Specific Mutation Databases (LSDB): RPGRIP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPGRIP1
    DNA2.0 Custom Variant and Variant Library Synthesis for RPGRIP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605446   
    OMIM disorders: 613826  608194  
    UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7
  • 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
  • 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
  • Note=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

  • 13 diseases for RPGRIP1:    
    About MalaCards
    leber congenital amaurosis 6    rpgrip1-related leber congenital amaurosis    cone-rod dystrophy 13    laurence-moon syndrome
    retinitis pigmentosa 12    retinitis pigmentosa 3    rpe65-related leber congenital amaurosis    retinitis
    leber congenital amaurosis 17    meckel syndrome 1    retinitis pigmentosa    cone-rod dystrophy 2
    leber congenital amaurosis

    7 diseases from the University of Copenhagen DISEASES database for RPGRIP1:
    Leber congenital amaurosis     cone-rod dystrophy     Fundus dystrophy     Retinitis pigmentosa
    Blindness     Nephronophthisis     Laurence-Moon syndrome

    Find genes that share disorders with RPGRIP1           About GenesLikeMe

    9 Novoseek inferred disease relationships for RPGRIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 97.7 17 17306875 (2), 16123399 (2), 11283794 (2), 16806805 (2) (see all 12)
    cone-rod dystrophy 88.1 5 12920076 (1), 16806805 (1), 18593457 (1)
    retinitis pigmentosa 87.1 25 16272259 (3), 10958648 (1), 15370538 (1), 17306875 (1) (see all 15)
    blindness congenital 78.4 1 16339905 (1)
    retinal degeneration 70.3 1 19430481 (1)
    visual impairment 56.6 2 18632300 (1), 16806805 (1)
    vision low 54.5 1 16205573 (1)
    retinopathy 53.2 4 12140192 (2), 17653054 (1)
    atrophy 25.3 2 15691574 (1), 16205573 (1)

    GeneTests: RPGRIP1
    GeneReviews: RPGRIP1
    Genetic Association Database (GAD): RPGRIP1
    Human Genome Epidemiology (HuGE) Navigator: RPGRIP1 (4 documents)

    Export disorders for RPGRIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RPGRIP1 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with RPGRIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (PubMed id 10958648)1, 2, 3, 9 Roepman R.... Ferreira P.A. (Hum. Mol. Genet. 2000)
    2. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. (PubMed id 12920076)1, 2, 4, 9 Hameed A.... Khaliq S. (J. Med. Genet. 2003)
    3. Identification of a novel protein interacting with RPGR. (PubMed id 10958647)1, 2, 3 Boylan J.P. and Wright A.F. (Hum. Mol. Genet. 2000)
    4. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. (PubMed id 12140192)1, 2, 9 Mavlyutov T.A.... Ferreira P.A. (Hum. Mol. Genet. 2002)
    5. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. (PubMed id 11528500)1, 2, 9 Gerber S.... Rozet J.-M. (Eur. J. Hum. Genet. 2001)
    6. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    7. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. (PubMed id 21224891)1, 2 Fernandez-Martinez L.... Pasutto F. (Eur. J. Hum. Genet. 2011)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. (PubMed id 15914599)1, 9 Lu X. and Ferreira P.A. (Invest. Ophthalmol. Vis. Sci. 2005)
    10. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. (PubMed id 16339905)1, 9 Roepman R....Cremers F.P. (Proc. Natl. Acad. Sci. U.S.A. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57096 HGNC: 13436 AceView: RPGRIP1 Ensembl:ENSG00000092200 euGenes: HUgn57096
    ECgene: RPGRIP1 H-InvDB: RPGRIP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RPGRIP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RPGRIP1[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for RPGRIP1 gene:
    Search GeneIP for patents involving RPGRIP1

    GeneCards and IP:
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