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    Rpgrip1 RPGR interacting protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 305850, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rpgrip1provided by RGD
    Official Full Name
    RPGR interacting protein 1provided by RGD
    Primary source
    RGD:1310807
    See related
    EnsemblRapid:ENSRNOG00000011809 AllianceGenome:RGD:1310807
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to be involved in detection of light stimulus involved in visual perception. Predicted to act upstream of or within eye development; neural precursor cell proliferation; and visual perception. Located in ciliary rootlet and ciliary transition zone. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 198.2), Thymus (RPKM 31.3) and 5 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Rpgrip1 in Genome Data Viewer
    Location:
    15p14
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 15 NC_086033.1 (27282997..27341021)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 15 NC_051350.1 (24814576..24867522)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 15 NC_005114.4 (28521287..28575046)

    Chromosome 15 - NC_086033.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102553296 Neighboring gene heterogeneous nuclear ribonucleoprotein C Neighboring gene uncharacterized LOC120096964 Neighboring gene SPT16 homolog, facilitates chromatin remodeling subunit Neighboring gene ribosomal protein L9, pseudogene 29 Neighboring gene chromodomain helicase DNA binding protein 8 Neighboring gene small nucleolar RNA, C/D box 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. Busse C, et al. Vet Ophthalmol, 2011 May. PMID 21521437
    2. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. Hameed A, et al. J Med Genet, 2003 Aug. PMID 12920076, Free PMC Article
    3. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Dryja TP, et al. Am J Hum Genet, 2001 May. PMID 11283794, Free PMC Article
    4. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Eblimit A, et al. Hum Mol Genet, 2015 Mar 15. PMID 25398945, Free PMC Article
    5. 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

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC114442

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in detection of light stimulus involved in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within eye photoreceptor cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural precursor cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retinal rod cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary rootlet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuron projection ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in non-motile cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in photoreceptor connecting cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor distal connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
    Names
    retinitis pigmentosa GTPase regulator interacting protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001427786.1 → NP_001414715.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000015
      UniProtKB/TrEMBL
      A0A8I6A160
      Related
      ENSRNOP00000104944.1, ENSRNOT00000135789.1

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086033.1 Reference GRCr8

      Range
      27282997..27341021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063274229.1 → XP_063130299.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A8I6A160
      Related
      ENSRNOP00000086411.1, ENSRNOT00000076459.4

    2. XM_063274225.1 → XP_063130295.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X1

    3. XM_063274228.1 → XP_063130298.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X4

    4. XM_063274226.1 → XP_063130296.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X2

    5. XM_063274227.1 → XP_063130297.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001030035.1: Suppressed sequence

      Description
      NM_001030035.1: This RefSeq was suppressed temporarily based on the calculation that the encoded protein was shorter than proteins from the putative ortholog from cow: RPGRIP1 (GeneID:282656).
    Nucleotide Protein Strain
    Heading Accession and Version

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