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    Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 77945, updated on 9-Dec-2024

    Summary

    Official Symbol
    Rpgrip1provided by MGI
    Official Full Name
    retinitis pigmentosa GTPase regulator interacting protein 1provided by MGI
    Primary source
    MGI:MGI:1932134
    See related
    Ensembl:ENSMUSG00000057132 AllianceGenome:MGI:1932134
    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
    nmf247; 0610005A07Rik; 4930401L23Rik; 4930505G06Rik; A930002K18Rik
    Summary
    Predicted to enable thromboxane A2 receptor binding activity. Acts upstream of or within eye development; neural precursor cell proliferation; and visual perception. Located in axoneme and photoreceptor distal connecting cilium. Is expressed in brain; cerebral cortex; photoreceptor layer outer segment; retina outer nuclear layer; and telencephalon ventricular layer. Used to study Leber congenital amaurosis 6. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 34.8), CNS E11.5 (RPKM 6.0) and 17 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Rpgrip1 in Genome Data Viewer
    Location:
    14 C2; 14 26.81 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (52341698..52398796)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (52104241..52161339)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L17 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein C Neighboring gene MRT4, mRNA turnover 4, homolog pseudogene Neighboring gene SPT16, facilitates chromatin remodeling subunit Neighboring gene STARR-positive B cell enhancer ABC_E7310 Neighboring gene STARR-seq mESC enhancer starr_36700 Neighboring gene chromodomain helicase DNA binding protein 8 Neighboring gene predicted gene, 26590 Neighboring gene small nucleolar RNA, C/D box 8

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in axoneme PubMed 
    located_in ciliary rootlet  
    located_in cilium PubMed 
    located_in neuron projection PubMed 
    located_in non-motile cilium PubMed 
    is_active_in photoreceptor connecting cilium  
    located_in photoreceptor connecting cilium PubMed 
    located_in photoreceptor distal connecting cilium PubMed 

    General protein information

    Preferred Names
    X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
    Names
    RPGR-interacting protein 1

    NCBI Reference Sequences (RefSeq)

    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_001168515.1NP_001161987.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AY008297, BC081545, BC086692
      Consensus CDS
      CCDS49490.1
      UniProtKB/TrEMBL
      E9QQ97, Q0VGR8
      Related
      ENSMUSP00000107227.3, ENSMUST00000111600.11
      Conserved Domains (1) summary
      cd00030
      Location:603710
      C2; C2 domain
    2. NM_023879.3NP_076368.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_076368.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AY008297, BC081545, BC086692
      Consensus CDS
      CCDS36918.1
      UniProtKB/Swiss-Prot
      Q8CAC2, Q8CDJ9, Q91WE0, Q9CUK6, Q9D5Q1, Q9EPQ2
      UniProtKB/TrEMBL
      E7CHD7
      Related
      ENSMUSP00000107230.3, ENSMUST00000111603.10
      Conserved Domains (2) summary
      cd00030
      Location:765872
      C2; C2 domain
      pfam11618
      Location:583718
      C2-C2_1; First C2 domain of RPGR-interacting protein 1

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      52341698..52398796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519689.5XP_006519752.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      E7CHD7
      Related
      ENSMUSP00000138027.2, ENSMUST00000181401.8
      Conserved Domains (5) summary
      cd00030
      Location:805912
      C2; C2 domain
      TIGR02168
      Location:270594
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17325
      Location:10831147
      SPG4; Stationary phase protein 4
      pfam11618
      Location:623758
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:11991364
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    2. XM_017316222.2XP_017171711.2  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X2

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (4) summary
      cd00030
      Location:603710
      C2; C2 domain
      TIGR02168
      Location:219540
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17325
      Location:881945
      SPG4; Stationary phase protein 4
      pfam18111
      Location:9971162
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    3. XM_036158901.1XP_036014794.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (1) summary
      pfam18111
      Location:8431008
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    4. XM_036158903.1XP_036014796.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X6

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (2) summary
      TIGR02168
      Location:219544
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam18111
      Location:832997
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    5. XM_036158902.1XP_036014795.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X5

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (2) summary
      COG1196
      Location:222544
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18111
      Location:8421007
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    6. XM_036158906.1XP_036014799.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X9

      Conserved Domains (1) summary
      pfam18111
      Location:524689
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    7. XM_006519692.5XP_006519755.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006519755.1

      UniProtKB/TrEMBL
      E7CHD7
      Conserved Domains (5) summary
      cd00030
      Location:566673
      C2; C2 domain
      TIGR02168
      Location:31355
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17325
      Location:844908
      SPG4; Stationary phase protein 4
      pfam11618
      Location:384519
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:9601125
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    8. XM_036158904.1XP_036014797.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X7

      Conserved Domains (2) summary
      pfam11618
      Location:226346
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:637802
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    9. XM_006519696.5XP_006519759.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X10

      See identical proteins and their annotated locations for XP_006519759.1

      UniProtKB/Swiss-Prot
      Q9EPQ2
      Conserved Domains (2) summary
      pfam17325
      Location:407471
      SPG4; Stationary phase protein 4
      pfam18111
      Location:523688
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    10. XM_036158905.1XP_036014798.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X8

      Conserved Domains (3) summary
      cd00030
      Location:184291
      C2; C2 domain
      pfam11618
      Location:2137
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:578743
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
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