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    RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 57096, updated on 5-May-2013
    Official Symbol
    RPGRIP1provided by HGNC
    Official Full Name
    retinitis pigmentosa GTPase regulator interacting protein 1provided by HGNC
    Primary source
    HGNC:13436
    See related
    Ensembl:ENSG00000092200; HPRD:05673; MIM:605446; Vega:OTTHUMG00000170758
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d
    Summary
    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]
    Location :
    14q11
    Sequence :
    Chromosome: 14; NC_000014.8 (21756136..21819460)
    See RPGRIP1 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 641 Neighboring gene heterogeneous nuclear ribonucleoprotein C (C1/C2) Neighboring gene mitochondrial ribosomal protein S17 pseudogene 6 Neighboring gene suppressor of Ty 16 homolog (S. cerevisiae) Neighboring gene chromodomain helicase DNA binding protein 8 Neighboring gene small nucleolar RNA, C/D box 9

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    2. RPGRIP1 and cone-rod dystrophy in dogs. Kuznetsova T, et al. Adv Exp Med Biol, 2012. PMID 22183349.
    3. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Coene KL, et al. Hum Mol Genet, 2011 Sep 15. PMID 21685204.
    4. Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Fernández-Martínez L, et al. Eur J Hum Genet, 2011 Apr. PMID 21224891.
    5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. Booij JC, et al. Ophthalmology, 2011 Jan. PMID 20801516.

    See all (23) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia.
      Title: RPGRIP1 and cone-rod dystrophy in dogs.
    2. Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly.
      Title: The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
    3. heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma
      Title: Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
    4. Observational study of genetic testing. (HuGE Navigator)
      Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    5. Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases.
      Title: RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
    6. RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors.
      Title: Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
    7. RPGR ORF15 isoform co-localizes with RPGRIP1 at cenrioles and basal bodies and interacts with nucleophosmin.
      Title: RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
    8. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa
      Title: Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
    9. RPGRIP1-mediated nucleocytoplasmic crosstalk emerges with implications in the molecular pathogenesis of retinopathies
      Title: Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis.
    10. RPGRIP1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina
      Title: Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
    Submit: New GeneRIF Correction See all (11)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q96KN7 O75161 NPHP4    HPRD  PubMed  
    Q96KN7 Q92834 RPGR    HPRD  PubMed  
    BioGRID:121364 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:121364 BioGRID:107479 CEBPA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:121364 BioGRID:112030 RPGR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 

    Markers

    Genotypes

    Homology

    Clone Names

    • DKFZp686P0897

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    axoneme IEA
    Inferred from Electronic Annotation
    more info
    		  
    cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
    Names
    X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
    RPGR-interacting protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008933.1 RefSeqGene

      Range
      5001..68325
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020366.3 → NP_065099.3  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

      Status: REVIEWED

      Source sequence(s)
      AJ417067, AW593388, BX571740
      Consensus CDS
      CCDS45080.1
      UniProtKB/Swiss-Prot
      Q96KN7
      Related
      ENSP00000382895, OTTHUMP00000244344, ENST00000400017, OTTHUMT00000410258
      Conserved Domains (2) summary
      cd00030
      Location:801 – 908
      Blast Score: 132
      C2; C2 domain
      pfam11618
      Location:652 – 756
      Blast Score: 446
      DUF3250; Protein of unknown function (DUF3250)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p10 Primary Assembly

      Range
      21756136..21819460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      1876922..1939296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018925.1 Alternate CHM1_1.0

      Range
      2754693..2818001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01061242.1 (5922..31618) None
    genomic ABBA01061243.1 None
    genomic ABBA01061244.1 None
    genomic ABBA01061245.1 None
    genomic AJ417048.1 CAD01136.1
    genomic AL135744.4 (88916..152155) None
    genomic AMYH01005595.1 (17577..80885) None
    genomic CH471078.2 EAW66388.1
      EAW66389.1
      EAW66390.1
      EAW66391.1
    mRNA AF227257.1 AAG10246.1
    mRNA AF260257.1 AAF91371.1
    mRNA AF265666.1 AAG10000.1
    mRNA AF265667.1 AAG10001.1
    mRNA AJ417067.1 CAD01135.1
    mRNA AK301780.1 BAG63237.1
    mRNA AW593388.1 None
    mRNA AY914561.1 AAX11416.1
    mRNA BC039089.1 AAH39089.1
    mRNA BX571740.1 CAE11866.1
    other-genetic BC148360.1 AAI48361.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KN7.2 GenPept UniProtKB/Swiss-Prot:Q96KN7

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials
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      Supplemental Content

      Table of contents

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      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
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      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
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        Genome records having the gene annotated on corresponding genomic reference sequence.
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      • HomoloGene
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        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to Nucleotide RefSeqGenes
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        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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