Rpgrip1l - Rpgrip1-like Gene

Mus musculus

Also known as Ftm; Nphp8; 4931437C01; 1700047E16Rik

Gene ID: 244585 | Gene type: protein coding

About Rpgrip1l

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]

Rpgrip1l Products(1)

mRNA	Protein	Name
NM_173431.2	NP_775607.2	protein fantom

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21565611	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within brain development	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within camera-type eye development	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within cerebellum development	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within cochlea development	IMP IMP: Inferred from mutant phenotype	22927466	MGI
acts upstream of or within corpus callosum development	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within embryonic forelimb morphogenesis	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within embryonic hindlimb morphogenesis	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within establishment of planar polarity	IMP IMP: Inferred from mutant phenotype	22927466	MGI
acts upstream of or within establishment or maintenance of cell polarity	IMP IMP: Inferred from mutant phenotype	22832925	MGI
acts upstream of or within head development	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within lateral ventricle development	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within limb morphogenesis	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within liver development	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within neural tube patterning	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	22832925	MGI
acts upstream of or within nose development	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within olfactory bulb development	IMP IMP: Inferred from mutant phenotype	17558409	MGI
acts upstream of or within pericardium development	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	17553904	MGI
acts upstream of or within telencephalon development	IMP IMP: Inferred from mutant phenotype	17558409	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in ciliary basal body	IDA IDA: Inferred from direct assay	17553904	MGI
located in ciliary transition zone	IDA IDA: Inferred from direct assay	22927466	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	21565611	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

protein fantom

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

Rpgrip1l Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Rpgrip1l	Q8CG73	Nphp4	Mus musculus	P59240	Anti Tag CoIP	21565611
Intra	Rpgrip1l	Q8CG73	Iqcb1	Mus musculus	Q8BP00	Anti Tag CoIP	21565611

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12156	RPGRIP1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Rpgrip1l	NCBI	NCBI:23322

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