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

Gene ID: 77945, updated on 5-Mar-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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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

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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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