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

    Gene ID: 77945, updated on 12-May-2024

    Summary

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    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
    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, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 34.8), CNS E11.5 (RPKM 6.0) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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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. Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons. Patil H, et al. Cell Death Dis, 2012 Jul 19. PMID 22825473, Free PMC Article
    2. RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis. Won J, et al. Hum Mol Genet, 2009 Nov 15. PMID 19679561, Free PMC Article
    3. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Pawlyk BS, et al. Invest Ophthalmol Vis Sci, 2005 Sep. PMID 16123399
    4. Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. Lu X, et al. Invest Ophthalmol Vis Sci, 2005 Jun. PMID 15914599, Free PMC Article
    5. Leber congenital amaurosis caused by mutations in RPGRIP1. Li T. Cold Spring Harb Perspect Med, 2014 Nov 20. PMID 25414380, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of Rpgrip1 expression is associated with Ciliopathy.
      Title: Cell type-specific regulation of ciliary transition zone assembly in vertebrates.
    2. the results of this study indicate that the effects of FTO-associated SNPs on energy homeostasis are due in part to the effects of these genetic variations on hypothalamic FTO, RPGRIP1L, and possibly other genes.
      Title: Hypomorphism of Fto and Rpgrip1l causes obesity in mice.
    3. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]
      Title: Leber congenital amaurosis caused by mutations in RPGRIP1.
    4. RPGRIP1 loss in photoreceptors shifts the subcellular partitioning of SDCCAG8 and NPHP4 to the membrane fraction associated to the endoplasmic reticulum.
      Title: Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.
    5. RPGRIP1 is essential for rod photoreceptor outer segment morphogenesis.
      Title: RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
    6. RPGRIP1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina
      Title: Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
    Submit: New GeneRIF Correction

    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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables thromboxane A2 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within eye photoreceptor cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural precursor cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly 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 development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retinal rod cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in photoreceptor connecting cilium IBA
    Inferred from Biological aspect of Ancestor
    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 

    General protein information

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

    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_001168515.1 → NP_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:603 → 710
      C2; C2 domain

    2. NM_023879.3 → NP_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:765 → 872
      C2; C2 domain
      pfam11618
      Location:583 → 718
      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_006519689.5 → XP_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:805 → 912
      C2; C2 domain
      TIGR02168
      Location:270 → 594
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17325
      Location:1083 → 1147
      SPG4; Stationary phase protein 4
      pfam11618
      Location:623 → 758
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:1199 → 1364
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    2. XM_017316222.2 → XP_017171711.2  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X2

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (4) summary
      cd00030
      Location:603 → 710
      C2; C2 domain
      TIGR02168
      Location:219 → 540
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17325
      Location:881 → 945
      SPG4; Stationary phase protein 4
      pfam18111
      Location:997 → 1162
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    3. XM_036158901.1 → XP_036014794.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (1) summary
      pfam18111
      Location:843 → 1008
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    4. XM_036158903.1 → XP_036014796.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X6

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (2) summary
      TIGR02168
      Location:219 → 544
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam18111
      Location:832 → 997
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    5. XM_036158902.1 → XP_036014795.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X5

      UniProtKB/TrEMBL
      Q0VGR8
      Conserved Domains (2) summary
      COG1196
      Location:222 → 544
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam18111
      Location:842 → 1007
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    6. XM_036158906.1 → XP_036014799.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X9

      Conserved Domains (1) summary
      pfam18111
      Location:524 → 689
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    7. XM_006519692.5 → XP_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:566 → 673
      C2; C2 domain
      TIGR02168
      Location:31 → 355
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam17325
      Location:844 → 908
      SPG4; Stationary phase protein 4
      pfam11618
      Location:384 → 519
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:960 → 1125
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    8. XM_036158904.1 → XP_036014797.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X7

      Conserved Domains (2) summary
      pfam11618
      Location:226 → 346
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:637 → 802
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    9. XM_006519696.5 → XP_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:407 → 471
      SPG4; Stationary phase protein 4
      pfam18111
      Location:523 → 688
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal

    10. XM_036158905.1 → XP_036014798.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X8

      Conserved Domains (3) summary
      cd00030
      Location:184 → 291
      C2; C2 domain
      pfam11618
      Location:2 → 137
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:578 → 743
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9EPQ2.1 GenPept UniProtKB/Swiss-Prot:Q9EPQ2

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