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    Rpgrip1l Rpgrip1-like [ Rattus norvegicus (Norway rat) ]

    Gene ID: 307724, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rpgrip1lprovided by RGD
    Official Full Name
    Rpgrip1-likeprovided by RGD
    Primary source
    RGD:1311099
    See related
    EnsemblRapid:ENSRNOG00000011829 AllianceGenome:RGD:1311099
    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
    Also known as
    RGD1311099
    Summary
    Predicted to enable thromboxane A2 receptor binding activity. Predicted to be involved in negative regulation of G protein-coupled receptor signaling pathway; non-motile cilium assembly; and retinal rod cell development. Predicted to act upstream of or within several processes, including cochlea development; embryonic limb morphogenesis; and nervous system development. Located in cytoskeleton and photoreceptor connecting cilium. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Meckel syndrome 5; anencephaly; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 66.4), Testes (RPKM 65.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Rpgrip1l in Genome Data Viewer
    Location:
    19p11
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (31865050..31957930)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (15692189..15785083)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (17115266..17208055)

    Chromosome 19 - NC_086037.1Genomic Context describing neighboring genes Neighboring gene iroquois homeobox 3 Neighboring gene uncharacterized LOC102556484 Neighboring gene FTO, alpha-ketoglutarate dependent dioxygenase Neighboring gene uncharacterized LOC134483615 Neighboring gene AKT interacting protein Neighboring gene RB transcriptional corepressor like 2

    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. Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia. Woo J, et al. Gene, 2012 May 10. PMID 22425971
    2. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. Wolf MT, et al. Kidney Int, 2007 Dec. PMID 17960139
    3. Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor. Tokue S, et al. Prostaglandins Other Lipid Mediat, 2009 Jun. PMID 19464661
    4. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Delous M, et al. Nat Genet, 2007 Jul. PMID 17558409
    5. Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Fahim AT, et al. Adv Exp Med Biol, 2012. PMID 22183348, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables thromboxane A2 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thromboxane A2 receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cerebellum development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cochlea development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within corpus callosum development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within determination of left/right symmetry ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic forelimb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic hindlimb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within establishment of planar polarity ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within establishment or maintenance of cell polarity ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within head development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within kidney development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lateral ventricle development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within liver development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural tube patterning 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 non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within nose development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within olfactory bulb development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pericardium development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of smoothened signaling pathway 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 telencephalon development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body 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 ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein fantom

    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_001107414.2 → NP_001100884.1  protein fantom

      See identical proteins and their annotated locations for NP_001100884.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A6KD74, D3Z8G3
      Related
      ENSRNOP00000015876.5, ENSRNOT00000015876.5
      Conserved Domains (2) summary
      cd00030
      Location:792 → 891
      C2; C2 domain
      pfam11618
      Location:598 → 737
      C2-C2_1; First C2 domain of RPGR-interacting protein 1

    2. NM_001434436.1 → NP_001421365.1  protein fantom

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A6KD74, D3Z8G3

    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_086037.1 Reference GRCr8

      Range
      31865050..31957930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063278006.1 → XP_063134076.1  protein fantom isoform X1

      UniProtKB/TrEMBL
      A6KD74, D3Z8G3

    2. XM_063278005.1 → XP_063134075.1  protein fantom isoform X1

    3. XM_063278014.1 → XP_063134084.1  protein fantom isoform X9

    4. XM_063278007.1 → XP_063134077.1  protein fantom isoform X1

      UniProtKB/TrEMBL
      A6KD74, D3Z8G3

    5. XM_063278012.1 → XP_063134082.1  protein fantom isoform X7

    6. XM_063278013.1 → XP_063134083.1  protein fantom isoform X8

    7. XM_063278009.1 → XP_063134079.1  protein fantom isoform X3

      UniProtKB/TrEMBL
      D3Z8G3

    8. XM_063278004.1 → XP_063134074.1  protein fantom isoform X1

      UniProtKB/TrEMBL
      A6KD74, D3Z8G3
      Related
      ENSRNOP00000104567.1, ENSRNOT00000168059.1

    9. XM_063278008.1 → XP_063134078.1  protein fantom isoform X2

      UniProtKB/TrEMBL
      A0A8I6A999, D3Z8G3
      Related
      ENSRNOP00000090332.2, ENSRNOT00000108798.2

    10. XM_063278010.1 → XP_063134080.1  protein fantom isoform X4

    11. XM_063278011.1 → XP_063134081.1  protein fantom isoform X5

    12. XM_039097720.2 → XP_038953648.1  protein fantom isoform X6

      Conserved Domains (3) summary
      cd00030
      Location:348 → 447
      C2; C2 domain
      pfam11618
      Location:154 → 293
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:650 → 813
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    RNA

    1. XR_010059995.1 RNA Sequence

    2. XR_010059993.1 RNA Sequence

    3. XR_010059994.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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