U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Rpgr retinitis pigmentosa GTPase regulator [ Rattus norvegicus (Norway rat) ]

    Gene ID: 367733, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Symbol
    Rpgrprovided by RGD
    Full Name
    retinitis pigmentosa GTPase regulatorprovided by RGD
    Primary source
    RGD:1560136
    See related
    EnsemblRapid:ENSRNOG00000003013 AllianceGenome:RGD:1560136
    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 cilium assembly and intraciliary transport. Predicted to act upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in cell projection. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 55.9), Thymus (RPKM 43.9) and 9 other tissues See more
    Orthologs
    human mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Rpgr in Genome Data Viewer
    Location:
    Xq12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (15238961..15299004)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (12566447..12628171)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (14271012..14331745, complement)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene PC4 and SFRS1 interacting protein 1, pseudogene 1 Neighboring gene ornithine transcarbamylase Neighboring gene transfer RNA alanine (anticodon CGC) 4 Neighboring gene sushi-repeat-containing protein, X-linked

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Jacobson SG, et al. Invest Ophthalmol Vis Sci, 1997 Sep. PMID 9331262
    2. Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Vervoort R, et al. Hum Mutat, 2002 May. PMID 11968081
    3. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. Pawlyk BS, et al. Hum Gene Ther, 2010 Aug. PMID 20384479, Free PMC Article
    4. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa. Liu L, et al. Chin Med J (Engl), 2002 Jun. PMID 12123547
    5. Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. Rebello G, et al. Clin Genet, 2003 Aug. PMID 12859409

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RPGR localizes to the podocytes in the glomerulus as well as to primary cilia in parietal epithelium and tubules
      Title: Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney.
    Submit: New GeneRIF Correction

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC187915

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cellular response to light stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within eye photoreceptor cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within retina morphogenesis in camera-type eye ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in visual perception ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body 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 photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor distal connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sperm flagellum ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    X-linked retinitis pigmentosa GTPase regulator

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001127601.2 → NP_001121073.1  X-linked retinitis pigmentosa GTPase regulator isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate penultimate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC162028, JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8I6ANX7, B1WC72
      Related
      ENSRNOP00000060034.3, ENSRNOT00000067603.3
      Conserved Domains (2) summary
      COG5184
      Location:78 → 368
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00415
      Location:352 → 398
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    2. NM_001374059.1 → NP_001360988.1  X-linked retinitis pigmentosa GTPase regulator isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC162028, JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8I6AFA8
      Related
      ENSRNOP00000092956.1, ENSRNOT00000108262.2
      Conserved Domains (3) summary
      COG5184
      Location:78 → 368
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      COG5271
      Location:625 → 910
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
      pfam00415
      Location:352 → 398
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    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_086039.1 Reference GRCr8

      Range
      15238961..15299004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_008773082.4 → XP_008771304.1  X-linked retinitis pigmentosa GTPase regulator isoform X2

      See identical proteins and their annotated locations for XP_008771304.1

      Related
      ENSRNOP00000095069.2, ENSRNOT00000104202.2
      Conserved Domains (2) summary
      pfam00415
      Location:93 → 139
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180 → 209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    2. XM_039099935.2 → XP_038955863.1  X-linked retinitis pigmentosa GTPase regulator isoform X3

      Conserved Domains (3) summary
      COG5184
      Location:78 → 368
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      COG5271
      Location:625 → 910
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
      pfam00415
      Location:352 → 398
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    3. XM_063280166.1 → XP_063136236.1  X-linked retinitis pigmentosa GTPase regulator isoform X4

    4. XM_008773081.4 → XP_008771303.1  X-linked retinitis pigmentosa GTPase regulator isoform X1

      See identical proteins and their annotated locations for XP_008771303.1

      Conserved Domains (2) summary
      pfam00415
      Location:93 → 139
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180 → 209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    5. XM_063280170.1 → XP_063136240.1  X-linked retinitis pigmentosa GTPase regulator isoform X10

      UniProtKB/TrEMBL
      A0A8I6ANX7

    6. XM_063280168.1 → XP_063136238.1  X-linked retinitis pigmentosa GTPase regulator isoform X8

      UniProtKB/TrEMBL
      A0A8I6ANX7

    7. XM_063280169.1 → XP_063136239.1  X-linked retinitis pigmentosa GTPase regulator isoform X9

      UniProtKB/TrEMBL
      A0A8I6ANX7

    8. XM_008773083.4 → XP_008771305.1  X-linked retinitis pigmentosa GTPase regulator isoform X5

      See identical proteins and their annotated locations for XP_008771305.1

      UniProtKB/TrEMBL
      A0A8I6ANX7
      Related
      ENSRNOP00000086725.2, ENSRNOT00000108154.2
      Conserved Domains (2) summary
      pfam00415
      Location:93 → 139
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180 → 209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    9. XM_017602250.3 → XP_017457739.1  X-linked retinitis pigmentosa GTPase regulator isoform X6

      UniProtKB/TrEMBL
      A0A8I6ANX7, F7F384

    10. XM_063280167.1 → XP_063136237.1  X-linked retinitis pigmentosa GTPase regulator isoform X7

      UniProtKB/TrEMBL
      A0A8I6ANX7

    11. XM_063280171.1 → XP_063136241.1  X-linked retinitis pigmentosa GTPase regulator isoform X11

      UniProtKB/TrEMBL
      A0A8I6ANX7

    12. XM_063280172.1 → XP_063136242.1  X-linked retinitis pigmentosa GTPase regulator isoform X12

      UniProtKB/TrEMBL
      A0A8I6ANX7

    RNA

    1. XR_010061211.1 RNA Sequence

    2. XR_010061212.1 RNA Sequence

    3. XR_010061213.1 RNA Sequence

    4. XR_010061214.1 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.

    Chemical Information
    Molecular Biology Databases
    Research Materials