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

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: human all
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Genomic context

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.
Title: Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.
The ciliopathy gene Ftm/Rpgrip1l controls mouse forebrain patterning via region-specific modulation of Hedgehog/Gli signaling.
Title: The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling.
Biotinylation assays on cell surface proteins not only reinforced the role of RPGRIP1L in desmoglein endocytosis, but also suggested that RPGRIP1L may be more broadly involved in endocytosis. Thus, data obtained from this study advanced our understanding of the biological functions of RPGRIP1L by identifying its role in the cellular endocytic pathway.
Title: RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis.
autophagic activity was decreased due to an increased activation of the MTOR complex 1
Title: The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts.
Knockout of Rpgrip1l in mature adipocytes did not increase adiposity in mice that were fed chow or a high-fat diet. No effects of Rpgrip1l knockdown were observed in 3T3-L1 adipocytes.
Title: The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.
Loss of Rpgrip1l expression is associated with Ciliopathy.
Title: Cell type-specific regulation of ciliary transition zone assembly in vertebrates.
Rpgrip1l controls ciliary signaling by regulating the activity of the ciliary proteasome via Psmd2.
Title: The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium.
RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway.
Title: The ciliopathy gene Rpgrip1l is essential for hair follicle development.
Rpgrip1l/ mice are hyperphagic.
Title: Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
loss of Ftm leads to shortened cilia and a reduced proliferation in distinct atrial and ventricular ciliary regions at E11.5. Consequently, wall thickness is diminished in these areas
Title: The ciliary protein Ftm is required for ventricular wall and septal development.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH138333 (e-PCR)
- UniSTS:220420

Rpgrip1l (e-PCR), detects polymorphism
- UniSTS:532306

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

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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)

NM_173431.2 → NP_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:792 → 891

C2; C2 domain

pfam11618
Location:598 → 737

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam17078
Location:181 → 400

SHE3; SWI5-dependent HO expression protein 3

cl23720
Location:214 → 350

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

91943658..92039919 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154039.1 → XP_036009932.1 protein fantom isoform X3

Conserved Domains (4) summary

cd00030
Location:782 → 881

C2; C2 domain

COG0419
Location:47 → 562

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam11618
Location:588 → 727

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:1084 → 1247

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_036154038.1 → XP_036009931.1 protein fantom isoform X2

Conserved Domains (5) summary

cd00030
Location:786 → 885

C2; C2 domain

PHA02562
Location:312 → 592

46; endonuclease subunit; Provisional

TIGR02168
Location:101 → 404

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam11618
Location:592 → 731

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:1088 → 1251

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_006530994.4 → XP_006531057.1 protein fantom isoform X5

Conserved Domains (3) summary

COG0419
Location:47 → 577

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam11618
Location:602 → 723

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:921 → 1084

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_006530993.4 → XP_006531056.1 protein fantom isoform X4

Conserved Domains (4) summary

cd00030
Location:715 → 789

C2; C2 domain

COG0419
Location:47 → 577

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam11618
Location:602 → 721

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:992 → 1155

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_006530991.4 → XP_006531054.1 protein fantom isoform X1

See identical proteins and their annotated locations for XP_006531054.1

Conserved Domains (4) summary

cd00030
Location:796 → 895

C2; C2 domain

COG0419
Location:47 → 577

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam11618
Location:602 → 741

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:1098 → 1261

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_006530992.4 → XP_006531055.1 protein fantom isoform X1

See identical proteins and their annotated locations for XP_006531055.1

Conserved Domains (4) summary

cd00030
Location:796 → 895

C2; C2 domain

COG0419
Location:47 → 577

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

pfam11618
Location:602 → 741

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:1098 → 1261

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_006530995.4 → XP_006531058.1 protein fantom isoform X6

Conserved Domains (4) summary

cd00030
Location:412 → 511

C2; C2 domain

TIGR02168
Location:1 → 191

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam11618
Location:218 → 357

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:714 → 877

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_036154040.1 → XP_036009933.1 protein fantom isoform X7

Conserved Domains (3) summary

cd00030
Location:403 → 502

C2; C2 domain

pfam11618
Location:209 → 348

C2-C2_1; First C2 domain of RPGR-interacting protein 1

pfam18111
Location:705 → 868

RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
XM_006530996.4 → XP_006531059.1 protein fantom isoform X8

Conserved Domains (3) summary

COG1196
Location:198 → 520

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02168
Location:47 → 321

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam11618
Location:602 → 721

C2-C2_1; First C2 domain of RPGR-interacting protein 1
XM_030243548.2 → XP_030099408.1 protein fantom isoform X9

Conserved Domains (2) summary

COG0419
Location:47 → 550

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

TIGR02168
Location:201 → 449

SMC_prok_B; chromosome segregation protein SMC, common bacterial type