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Rpgr retinitis pigmentosa GTPase regulator [ Mus musculus (house mouse) ]

Gene ID: 19893, updated on 3-Apr-2024

Summary

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Official Symbol
Rpgrprovided by MGI
Official Full Name
retinitis pigmentosa GTPase regulatorprovided by MGI
Primary source
MGI:MGI:1344037
See related
Ensembl:ENSMUSG00000031174 AllianceGenome:MGI:1344037
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rd9; Rp3h; mRpgr
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Involved in intraciliary transport. Acts upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in several cellular components, including ciliary basal body; photoreceptor distal connecting cilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; nervous system; and sensory organ. Used to study X-linked cone-rod dystrophy 1 and retinitis pigmentosa 3. 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, Apr 2022]
Expression
Broad expression in CNS E14 (RPKM 3.9), whole brain E14.5 (RPKM 3.6) and 19 other tissues See more
Orthologs
human all
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Genomic context

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See Rpgr in Genome Data Viewer
Location:
X A1.1; X 4.62 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (10024455..10083034, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (10158216..10216795, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene sushi-repeat-containing protein Neighboring gene STARR-seq mESC enhancer starr_46717 Neighboring gene predicted gene, 33844 Neighboring gene predicted gene, 54080 Neighboring gene STARR-seq mESC enhancer starr_46718 Neighboring gene ornithine transcarbamylase Neighboring gene ferritin light chain pseudogene Neighboring gene STARR-seq mESC enhancer starr_46719

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP. Falasconi A, et al. Front Neurosci, 2019. PMID 31607844, Free PMC Article
  2. Disease mechanisms and neuroprotection by tauroursodeoxycholic acid in Rpgr knockout mice. Zhang X, et al. J Cell Physiol, 2019 Aug. PMID 30924157
  3. Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features. Schlegel J, et al. Transl Res, 2019 Jan. PMID 30213530, Free PMC Article
  4. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo. Rao KN, et al. Biol Open, 2016 Apr 15. PMID 26941104, Free PMC Article
  5. Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Rao KN, et al. Sci Rep, 2015 Jun 11. PMID 26068394, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These studies provide a human-XLRP disease model but also act as a platform to design genome editing technology for retinal degenerative diseases using the currently available endonucleases.
    Title: Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features.
  2. In induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin.
    Title: Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
  3. Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
    Title: Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
  4. We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9, and Rpgr-cko) mice. In patients, there was pronounced macular disease
    Title: Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
  5. The discordant effect of the loss of RPGR on rod-dominant or cone-only rodent retinas is shown.
    Title: Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.
  6. study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these two genes into a common disease pathway.
    Title: Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
  7. Given a frequent occurrence of RPGR mutations in severe photoreceptor degeneration due to ciliary disorders, our results provide insights into pathways resulting in altered mature cilia function in ciliopathies.
    Title: Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.
  8. Data shsow that Rpgr ORF15 transcripts, but not protein, were detected in retinas from Rd9/Y male mice that exhibited retinal pathology.
    Title: Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
  9. Misexpression of Rpgr(ex1-19) causes retinal degeneration that is considerably more severe than that caused by Rpgr knockout but photoreceptors tolerate overexpression of Rpgr(ORF15) without evidence of degeneration.
    Title: Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.
  10. 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 See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: Srpx

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cellular response to light stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within eye photoreceptor cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intraciliary transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within response to stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within retina morphogenesis in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in visual perception IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within visual perception IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in visual perception ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection 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 cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor distal connecting cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in photoreceptor outer segment IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor outer segment ISO
Inferred from Sequence Orthology
more info
  
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
X-linked retinitis pigmentosa GTPase regulator

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_001177950.2 → NP_001171421.2  X-linked retinitis pigmentosa GTPase regulator isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL671042
    Consensus CDS
    CCDS53001.1
    UniProtKB/Swiss-Prot
    A2ADP3, G9BBQ2, O88408, Q9CU92, Q9R0X5
    Related
    ENSMUSP00000037358.7, ENSMUST00000044598.13

  2. NM_001177951.2 → NP_001171422.2  X-linked retinitis pigmentosa GTPase regulator isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL671042
    Consensus CDS
    CCDS53002.1
    Related
    ENSMUSP00000111194.2, ENSMUST00000115532.2

  3. NM_001177952.2 → NP_001171423.1  X-linked retinitis pigmentosa GTPase regulator isoform 4

    See identical proteins and their annotated locations for NP_001171423.1

    Status: VALIDATED

    Source sequence(s)
    AL671042
    Consensus CDS
    CCDS53000.1
    UniProtKB/TrEMBL
    A2ADP2, Q3UTY5
    Related
    ENSMUSP00000111196.2, ENSMUST00000115534.8
    Conserved Domains (2) summary
    pfam00415
    Location:151 → 201
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:85 → 114
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

  4. NM_001177953.2 → NP_001171424.2  X-linked retinitis pigmentosa GTPase regulator isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL671042
    Related
    ENSMUST00000155734.8

  5. NM_001177954.2 → NP_001171425.2  X-linked retinitis pigmentosa GTPase regulator isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL671042
    Related
    ENSMUST00000124744.2

  6. NM_001428201.1 → NP_001415130.1  X-linked retinitis pigmentosa GTPase regulator isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL671042

  7. NM_001428202.1 → NP_001415131.1  X-linked retinitis pigmentosa GTPase regulator isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL671042

  8. NM_001428203.1 → NP_001415132.1  X-linked retinitis pigmentosa GTPase regulator isoform 9

    Status: VALIDATED

    Source sequence(s)
    AL671042

  9. NM_001428204.1 → NP_001415133.1  X-linked retinitis pigmentosa GTPase regulator isoform 10

    Status: VALIDATED

    Source sequence(s)
    AL671042

  10. NM_001428205.1 → NP_001415134.1  X-linked retinitis pigmentosa GTPase regulator isoform 11

    Status: VALIDATED

    Source sequence(s)
    AL671042

  11. NM_001428206.1 → NP_001415135.1  X-linked retinitis pigmentosa GTPase regulator isoform 12

    Status: VALIDATED

    Source sequence(s)
    AL671042

  12. NM_001428207.1 → NP_001415136.1  X-linked retinitis pigmentosa GTPase regulator isoform 13

    Status: VALIDATED

    Source sequence(s)
    AL671042

  13. NM_001428208.1 → NP_001415137.1  X-linked retinitis pigmentosa GTPase regulator isoform 14

    Status: VALIDATED

    Source sequence(s)
    AL671042

  14. NM_001428209.1 → NP_001415138.1  X-linked retinitis pigmentosa GTPase regulator isoform 15

    Status: VALIDATED

    Source sequence(s)
    AL671042

  15. NM_001428210.1 → NP_001415139.1  X-linked retinitis pigmentosa GTPase regulator isoform 16

    Status: VALIDATED

    Source sequence(s)
    AL671042

  16. NM_011285.3 → NP_035415.2  X-linked retinitis pigmentosa GTPase regulator isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL671042
    Consensus CDS
    CCDS30014.1
    Related
    ENSMUSP00000073106.5, ENSMUST00000073392.11

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    10024455..10083034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9R0X5.2 GenPept UniProtKB/Swiss-Prot:Q9R0X5

Gene LinkOut

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