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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPGRIP1 Gene

protein-coding   GIFtS: 57
GCID: GC14P021756

Retinitis Pigmentosa GTPase Regulator Interacting Protein...


(Previous symbol: RPGRIP)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RPGRIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cell projection, cilium (By similarity). Note=Situated between the axonemal microtubules and
the plasma membrane (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96KN7

  • RPGRIP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RPGRIP1 Protein Expression
    REFSEQ proteins: NP_065099.3  
    ENSEMBL proteins: 
     ENSP00000450445   ENSP00000451219   ENSP00000382895   ENSP00000372391   ENSP00000452215  
     ENSP00000450662   ENSP00000451262   ENSP00000450426   ENSP00000451044   ENSP00000451719  
     ENSP00000206660   ENSP00000309721  

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    Novus Biologicals RPGRIP1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RPGRIP1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--
    GO:0005930axoneme IEA--

    RPGRIP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR021656 DUF3250
     IPR000008 C2_Ca-dep

    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


    RPGRIP1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    RPGRIP1 for ontologies           About GeneDecksing


    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 

    RPGRIP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rpgrip1tm1Tili for RPGRIP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RPGRIP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RPGRIP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPGRIP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPGRIP1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGRIP1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPGRIP1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for RPGRIP1 (Q96KN73 ENSP000003828954) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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 (GO ID links to tree view):    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--

    RPGRIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RPGRIP1 (RPGR1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RPGRIP1
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    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 

    24/30 AceView cDNA sequences (see all 30):

    BU729630 NM_020366 BI826832 AF265666 BI829146 AF265667 AJ417067 BC039089 
    AL711852 BP370518 BX571740 BI825694 BX491264 AA928161 BX954021 AF260257 
    AF227257 BU568229 AL712797 BX646036 AA782963 AI015922 AI655818 AL713027 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RPGRIP1 expression in normal human tissues (normalized intensities)      RPGRIP1 embryonic expression: see
    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 
     5/25 selected tissues (see all 25) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
             sperm   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             retinal progenitor cell e16.5   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             cervix, uterine ; glandular cells   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             oral mucosa ; squamous epithelial cells   
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             neutrophils   

    See RPGRIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPGRIP1

    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

        SABiosciences Custom PCR Arrays for RPGRIP1
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    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RPGRIP1 gene from 4/9 species (see all 9)    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 76.32(n)1
    66.51(a)1
      14 (26.81 cM)5
    779451  NM_001168515.11  NP_001161987.11 
     521107045 
    lizard
    (Anolis carolinensis)
    Reptilia RPGRIP16
    Uncharacterized protein
    35(a)
    1 ↔ 1
    GL343466.1(353349-381727)
    zebrafish
    (Danio rerio)
    Actinopterygii RPGRIP16
    retinitis pigmentosa GTPase regulator interacting ...
    25(a)
    1 ↔ 1
    24(7861908-7890778)
    worm
    (Caenorhabditis elegans)
    Secernentea mks-56
    Protein fantom
    13(a)
    1 → many
    II(10720231-10729252)


    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)
    About This Section
    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

    RPGRIP1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1630 SNPs in RPGRIP1 are shown (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
    ----------
    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--------
    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
    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605446   
    OMIM disorders: 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

  • 20/22 diseases for RPGRIP1 (see all 22):    About MalaCards
    leber congenital amaurosis 6    rpgrip1-related leber congenital amaurosis    cone-rod dystrophy 13    retinitis pigmentosa 3
    laurence-moon syndrome    n syndrome    rpe65-related leber congenital amaurosis    retinitis pigmentosa
    leber congenital amaurosis    cone-rod dystrophy    retinitis    blindness
    nephronophthisis    joubert syndrome    retinal degeneration    open-angle glaucoma
    primary open angle glaucoma    fundus dystrophy    coloboma    retinal disease

    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

    RPGRIP1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for RPGRIP1 gene, integrated from 9 sources (see all 56):
    (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. (2000)
    2. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. (PubMed id 12920076)1, 2, 4, 9 Hameed A.... Khaliq S. (2003)
    3. Identification of a novel protein interacting with RPGR. (PubMed id 10958647)1, 2, 3 Boylan J.P. and Wright A.F. (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. (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. (2001)
    6. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. (PubMed id 21224891)1, 2 FernA!ndez-MartA-nez L....Pasutto F. (2011)
    7. 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. (2010)
    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. (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. (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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57096 HGNC: 13436 AceView: RPGRIP1 Ensembl:ENSG00000092200 euGenes: HUgn57096
    ECgene: RPGRIP1 H-InvDB: RPGRIP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RPGRIP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPGRIP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RPGRIP1 gene:
    Search GeneIP for patents involving RPGRIP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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