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

    Gene ID: 19893, updated on 3-Apr-2016
    Official Symbol
    Rpgrprovided by MGI
    Official Full Name
    retinitis pigmentosa GTPase regulatorprovided by MGI
    Primary source
    MGI:MGI:1344037
    See related
    Ensembl:ENSMUSG00000031174 Vega:OTTMUSG00000016902
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Rp3h
    Orthologs
    Location:
    X; X A1.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) X NC_000086.7 (10158216..10216795, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (9735342..9793921, complement)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene sushi-repeat-containing protein Neighboring gene predicted gene, 33844 Neighboring gene ornithine transcarbamylase Neighboring gene ferritin light chain-like

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: Srpx

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    eye photoreceptor cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    retina morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    visual perception ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell projection ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment ISO
    Inferred from Sequence Orthology
    more info
     
    primary cilium ISO
    Inferred from Sequence Orthology
    more info
     
    sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    X-linked retinitis pigmentosa GTPase regulator
    Names
    mRpgr

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

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL671042
      Consensus CDS
      CCDS53001.1
      UniProtKB/TrEMBL
      A0A067XG46
      Related
      ENSMUSP00000037358, OTTMUSP00000018361, ENSMUST00000044598, OTTMUST00000041011
      Conserved Domains (2) summary
      pfam00415
      Location:246296
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    2. NM_001177951.1NP_001171422.1  X-linked retinitis pigmentosa GTPase regulator isoform 2

      See identical proteins and their annotated locations for NP_001171422.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and CDS compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK029864, AL671042
      Consensus CDS
      CCDS53002.1
      UniProtKB/TrEMBL
      Q8CDM3
      Related
      ENSMUSP00000111194, OTTMUSP00000018364, ENSMUST00000115532, OTTMUST00000041015
      Conserved Domains (2) summary
      pfam00415
      Location:246296
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    3. NM_001177952.1NP_001171423.1  X-linked retinitis pigmentosa GTPase regulator isoform 4

      See identical proteins and their annotated locations for NP_001171423.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK138977, AL671042
      Consensus CDS
      CCDS53000.1
      UniProtKB/TrEMBL
      Q3UTY5
      Related
      ENSMUSP00000111196, OTTMUSP00000018366, ENSMUST00000115534, OTTMUST00000041017
      Conserved Domains (2) summary
      pfam00415
      Location:151201
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:85114
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    4. NM_001177953.1NP_001171424.1  X-linked retinitis pigmentosa GTPase regulator isoform 5

      See identical proteins and their annotated locations for NP_001171424.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks exons in the 3' coding region and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform 5) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK038652, AL671042
      UniProtKB/TrEMBL
      Q8CAJ5
      Conserved Domains (2) summary
      pfam00415
      Location:246296
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    5. NM_001177954.1NP_001171425.1  X-linked retinitis pigmentosa GTPase regulator isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks exons in the 3' coding region and differs in the 3' coding region and UTR compared to variant 1. The resulting protein (isoform 6) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK081631, AL671042
      Conserved Domains (2) summary
      pfam00415
      Location:196243
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    6. NM_011285.2NP_035415.1  X-linked retinitis pigmentosa GTPase regulator isoform 3

      See identical proteins and their annotated locations for NP_035415.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Isoform 3 is shorter compared to isoform 1.
      Source sequence(s)
      AF044677, AL671042
      Consensus CDS
      CCDS30014.1
      UniProtKB/Swiss-Prot
      Q9R0X5
      UniProtKB/TrEMBL
      A2ADP2
      Related
      ENSMUSP00000073106, OTTMUSP00000018365, ENSMUST00000073392, OTTMUST00000041016
      Conserved Domains (2) summary
      pfam00415
      Location:246296
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:180209
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p3 C57BL/6J

      Range
      10158216..10216795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Mm_Celera

    Genomic

    1. AC_000042.1 Alternate Mm_Celera

      Range
      7863918..7924303 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)