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Rpgrip1l Rpgrip1-like [ Mus musculus (house mouse) ]

Gene ID: 244585, updated on 12-May-2024

Summary

Official Symbol
Rpgrip1lprovided by MGI
Official Full Name
Rpgrip1-likeprovided by MGI
Primary source
MGI:MGI:1920563
See related
Ensembl:ENSMUSG00000033282 AllianceGenome:MGI:1920563
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
Ftm; Nphp8; 4931437C01; 1700047E16Rik
Summary
Predicted to enable thromboxane A2 receptor binding activity. Acts upstream of or within several processes, including animal organ development; chordate embryonic development; and embryonic limb morphogenesis. Located in ciliary basal body; ciliary transition zone; and cytoplasm. Is expressed in organ of Corti; ovary; and testis. Used to study Joubert syndrome 7 and Meckel syndrome. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Meckel syndrome 5; anencephaly; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 2.8), CNS E18 (RPKM 2.2) and 22 other tissues See more
Orthologs
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Genomic context

See Rpgrip1l in Genome Data Viewer
Location:
8 C5; 8 44.29 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (91943658..92039919, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (91217030..91313291, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr8:93657981-93658282 Neighboring gene RB transcriptional corepressor like 2 Neighboring gene STARR-positive B cell enhancer mm9_chr8:93671652-93671953 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:93684510-93684619 Neighboring gene AKT interacting protein Neighboring gene karyopherin alpha 7 (importin alpha 8) pseudogene Neighboring gene predicted gene, 36243 Neighboring gene abhydrolase domain containing 10 pseudogene Neighboring gene STARR-seq mESC enhancer starr_22299 Neighboring gene predicted gene, 36163 Neighboring gene FTO alpha-ketoglutarate dependent dioxygenase Neighboring gene RIKEN cDNA 4831440D22 gene Neighboring gene STARR-seq mESC enhancer starr_22306 Neighboring gene STARR-seq mESC enhancer starr_22308 Neighboring gene uncharacterized LOC118567558

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)
  • Endonuclease-mediated (2) 
  • Targeted (3)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
enables thromboxane A2 receptor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebellum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cochlea development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within corpus callosum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of planar polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment or maintenance of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within head development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lateral ventricle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within liver development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of G protein-coupled receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neural tube patterning 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 non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within nose development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within olfactory bulb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pericardium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of smoothened signaling pathway 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 telencephalon development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in axonemal microtubule ISO
Inferred from Sequence Orthology
more info
 
located_in axoneme ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in ciliary rootlet ISO
Inferred from Sequence Orthology
more info
 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary transition zone ISO
Inferred from Sequence Orthology
more info
 
located_in cilium ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in photoreceptor connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in photoreceptor connecting cilium ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein fantom
Names
RPGR-interacting protein 1-like protein
RPGRIP1-like protein
fantom
nephrocystin-8

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_173431.2NP_775607.2  protein fantom

    See identical proteins and their annotated locations for NP_775607.2

    Status: VALIDATED

    Source sequence(s)
    AC139351, AJ344253, AK006705
    Consensus CDS
    CCDS22520.1
    UniProtKB/Swiss-Prot
    G3X958, Q8CG73
    Related
    ENSMUSP00000042702.8, ENSMUST00000047783.14
    Conserved Domains (4) summary
    cd00030
    Location:792891
    C2; C2 domain
    pfam11618
    Location:598737
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam17078
    Location:181400
    SHE3; SWI5-dependent HO expression protein 3
    cl23720
    Location:214350
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

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_000074.7 Reference GRCm39 C57BL/6J

    Range
    91943658..92039919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154039.1XP_036009932.1  protein fantom isoform X3

    Conserved Domains (4) summary
    cd00030
    Location:782881
    C2; C2 domain
    COG0419
    Location:47562
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam11618
    Location:588727
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:10841247
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  2. XM_036154038.1XP_036009931.1  protein fantom isoform X2

    Conserved Domains (5) summary
    cd00030
    Location:786885
    C2; C2 domain
    PHA02562
    Location:312592
    46; endonuclease subunit; Provisional
    TIGR02168
    Location:101404
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11618
    Location:592731
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:10881251
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  3. XM_006530994.4XP_006531057.1  protein fantom isoform X5

    Conserved Domains (3) summary
    COG0419
    Location:47577
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam11618
    Location:602723
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:9211084
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  4. XM_006530993.4XP_006531056.1  protein fantom isoform X4

    Conserved Domains (4) summary
    cd00030
    Location:715789
    C2; C2 domain
    COG0419
    Location:47577
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam11618
    Location:602721
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:9921155
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  5. XM_006530991.4XP_006531054.1  protein fantom isoform X1

    See identical proteins and their annotated locations for XP_006531054.1

    Conserved Domains (4) summary
    cd00030
    Location:796895
    C2; C2 domain
    COG0419
    Location:47577
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam11618
    Location:602741
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:10981261
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  6. XM_006530992.4XP_006531055.1  protein fantom isoform X1

    See identical proteins and their annotated locations for XP_006531055.1

    Conserved Domains (4) summary
    cd00030
    Location:796895
    C2; C2 domain
    COG0419
    Location:47577
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam11618
    Location:602741
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:10981261
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  7. XM_006530995.4XP_006531058.1  protein fantom isoform X6

    Conserved Domains (4) summary
    cd00030
    Location:412511
    C2; C2 domain
    TIGR02168
    Location:1191
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11618
    Location:218357
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:714877
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  8. XM_036154040.1XP_036009933.1  protein fantom isoform X7

    Conserved Domains (3) summary
    cd00030
    Location:403502
    C2; C2 domain
    pfam11618
    Location:209348
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:705868
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  9. XM_006530996.4XP_006531059.1  protein fantom isoform X8

    Conserved Domains (3) summary
    COG1196
    Location:198520
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:47321
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam11618
    Location:602721
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
  10. XM_030243548.2XP_030099408.1  protein fantom isoform X9

    Conserved Domains (2) summary
    COG0419
    Location:47550
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    TIGR02168
    Location:201449
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RNA

  1. XR_003947280.1 RNA Sequence