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rpgrb retinitis pigmentosa GTPase regulator b [ Danio rerio (zebrafish) ]

Gene ID: 557752, updated on 18-Sep-2024

Summary

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Official Symbol
rpgrbprovided by ZNC
Official Full Name
retinitis pigmentosa GTPase regulator bprovided by ZNC
Primary source
ZFIN:ZDB-GENE-081015-2
See related
Ensembl:ENSDARG00000057074 AllianceGenome:ZFIN:ZDB-GENE-081015-2
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary
Acts upstream of or within cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and retina morphogenesis in camera-type eye. Is expressed in several structures, including heart; liver; neural tube; optic cup; and pleuroperitoneal region. 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]
Orthologs
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Genomic context

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See rpgrb in Genome Data Viewer
Location:
chromosome: 11
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 11 NC_007122.7 (29770870..29790225)
105 previous assembly GRCz10 (GCF_000002035.5) 11 NC_007122.6 (29523696..29543051)

Chromosome 11 - NC_007122.7Genomic Context describing neighboring genes Neighboring gene guanylate cyclase 1, soluble, beta 2 Neighboring gene pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 Neighboring gene dynein light chain Tctex-type 3 Neighboring gene cytochrome b-245, beta polypeptide (chronic granulomatous disease)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Zebrafish model for the genetic basis of X-linked retinitis pigmentosa. Raghupathy RK, et al. Zebrafish, 2013 Mar. PMID 23536988
  2. Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes. Shu X, et al. Hum Mol Genet, 2010 Feb 15. PMID 19955120
  3. Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development. Ghosh AK, et al. Hum Mol Genet, 2010 Jan 1. PMID 19815619, Free PMC Article
  4. Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene. Raghupathy RK, et al. Invest Ophthalmol Vis Sci, 2015 Oct. PMID 26431479, Free PMC Article
  5. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Nishiguchi KM, et al. Proc Natl Acad Sci U S A, 2013 Oct 1. PMID 24043777, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rpgr2 is required for normal retinal development and plays a role in dynein-based retrograde transport processes. [Rpgr2]
    Title: Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by ZFIN

Process Evidence Code Pubs
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within microtubule-based movement IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retina layer formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within retinal rod cell development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within retinal rod cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
retinitis pigmentosa GTPase regulator b
Names
rpgr2

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_001312676.1 → NP_001299605.1  retinitis pigmentosa GTPase regulator b isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    CR450831, EH442709
    UniProtKB/TrEMBL
    A0A8M1P1U8, F1QM29
    Related
    ENSDARP00000083057.3, ENSDART00000088624.5
    Conserved Domains (2) summary
    pfam00415
    Location:54 → 102
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:143 → 172
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

  2. NM_001312677.1 → NP_001299606.1  retinitis pigmentosa GTPase regulator b isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses multiple alternate exons in the 3' coding region and differs in the 3' UTR compared to variant 1. It encodes isoform 2, which is shorter than and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    CR450831, EH442709
    UniProtKB/TrEMBL
    A0A8M1P801, F1QEL3
    Related
    ENSDARP00000109241.1, ENSDART00000124471.3
    Conserved Domains (2) summary
    pfam00415
    Location:54 → 102
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:143 → 172
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007122.7 Reference GRCz11 Primary Assembly

    Range
    29770870..29790225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version

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