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    RPGR retinitis pigmentosa GTPase regulator [ Homo sapiens (human) ]

    Gene ID: 6103, updated on 7-May-2017
    Official Symbol
    RPGRprovided by HGNC
    Official Full Name
    retinitis pigmentosa GTPase regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:10295
    See related
    Ensembl:ENSG00000156313 MIM:312610; Vega:OTTHUMG00000021361
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1
    Summary
    This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
    Orthologs
    Location:
    Xp11.4
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (38269163..38327564, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38128423..38186817, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene synaptotagmin like 5 Neighboring gene microRNA 548aj-2 Neighboring gene sushi repeat containing protein, X-linked Neighboring gene ornithine carbamoyltransferase Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 1 Neighboring gene BCL2 associated athanogene 1 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of retinitis pigmentosa GTPase regulator (RPGR) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular protein transport TAS
    Traceable Author Statement
    more info
    PubMed 
    intraciliary transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    X-linked retinitis pigmentosa GTPase regulator
    Names
    retinitis pigmentosa 15
    retinitis pigmentosa 3 GTPase regulator

    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.

    Genomic

    1. NG_009553.1 RefSeqGene

      Range
      5001..63366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000328.2NP_000319.1  X-linked retinitis pigmentosa GTPase regulator isoform A

      See identical proteins and their annotated locations for NP_000319.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) uses an alternate splice site and contains multiple alternative exons in the 3' coding region, compared to variant C. The resulting isoform (A, also referred to as isoform 1) is shorter and has a distinct C-terminus, compared to isoform C.
      Source sequence(s)
      BP233620, BX644678, CA313540, U57629
      Consensus CDS
      CCDS14246.1
      UniProtKB/Swiss-Prot
      Q92834
      Related
      ENSP00000322219.6, OTTHUMP00000023140, ENST00000318842.11, OTTHUMT00000056234
      Conserved Domains (2) summary
      pfam00415
      Location:158205
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:142171
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    2. NM_001034853.1NP_001030025.1  X-linked retinitis pigmentosa GTPase regulator isoform C

      See identical proteins and their annotated locations for NP_001030025.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) encodes the longest isoform (C).
      Source sequence(s)
      AL606748, BK005711, BP233620
      Consensus CDS
      CCDS35229.1
      UniProtKB/Swiss-Prot
      Q92834
      Related
      ENSP00000367766.2, OTTHUMP00000215635, ENST00000378505.6, OTTHUMT00000355888
      Conserved Domains (2) summary
      pfam00415
      Location:158205
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:142171
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      38269163..38327564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029712.1XP_016885201.1  X-linked retinitis pigmentosa GTPase regulator isoform X5

    2. XM_017029711.1XP_016885200.1  X-linked retinitis pigmentosa GTPase regulator isoform X2

    3. XM_005272633.2XP_005272690.1  X-linked retinitis pigmentosa GTPase regulator isoform X4

      Conserved Domains (2) summary
      pfam00415
      Location:158205
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:142171
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    4. XM_017029710.1XP_016885199.1  X-linked retinitis pigmentosa GTPase regulator isoform X1

      UniProtKB/Swiss-Prot
      Q92834
      Related
      ENSP00000343671.3, ENST00000339363.7
      Conserved Domains (2) summary
      pfam00415
      Location:158205
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:142171
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    5. XM_011543940.2XP_011542242.1  X-linked retinitis pigmentosa GTPase regulator isoform X3

      Conserved Domains (2) summary
      pfam00415
      Location:158205
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:142171
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      38159472..38217832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001023582.1: Suppressed sequence

      Description
      NM_001023582.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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