Rpgrip1l Gene Summary [Mouse]
Predicted to enable thromboxane A2 receptor binding activity. Acts upstream of or within several processes, including embryonic limb morphogenesis; nervous system development; and non-motile cilium assembly. 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Rpgrip1l |
| Official Name | Rpgrip1-like [Source:MGI Symbol;Acc:MGI:1920563] |
| Ensembl ID | ENSMUSG00000033282 |
| Bio databases IDs | |
| Aliases | Rpgrip1-like |
| Synonyms | 1700047E16Rik, 4931437C01, COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134, RGD1311099, RPGRIP1 like |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Rpgrip1l often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha helical coiled-coil rod protein (HCR)
- Ciliary protein causing Leber congenital amaurosis disease
- Retinitis pigmentosa G-protein regulator interacting C-terminal
- Trichohyalin-plectin-homology domain
- G-protein-coupled receptor binding
- protein binding
- First C2 domain of RPGR-interacting protein 1
- Protein kinase C conserved region 2 (CalB)
- Centrosomal protein of 63 kDa
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulated by
disease
- metabolic syndrome X
- fibrosis
- Joubert syndrome type 1
- hereditary disorder
- COACH syndrome 3
- Joubert syndrome type 7
- left pulmonary isomerism
- situs ambiguus
- RPGRIP1L-related disorder
- Joubert syndrome related disorder
phenotypes
- hyperplasia
- preweaning lethality complete penetrance
- abdominal situs ambiguus
- abnormal Mullerian duct topology
- abnormal accessory nerve morphology
- abnormal atrioventricular cushion morphology
- abnormal azygos vein topology
- abnormal basilar artery morphology
- abnormal basioccipital bone morphology
- abnormal basisphenoid bone morphology
- abnormal bile duct development
- abnormal brain vasculature morphology
- abnormal carotid artery morphology
- abnormal coronary sinus connection
- abnormal cranial blood vasculature morphology
- abnormal cranium morphology
- abnormal ductus venosus valve topology
- abnormal eye muscle morphology
- abnormal forebrain morphology
- abnormal heart position or orientation
- abnormal hepatic portal vein formation
- abnormal hindbrain morphology
- abnormal hyoid bone morphology
- abnormal hypoglossal nerve topology
- abnormal incisor morphology
- abnormal inferior vena cava topology
- abnormal inferior vena cava valve morphology
- abnormal inner ear morphology
- abnormal internal carotid artery morphology
- abnormal internal carotid artery topology
- abnormal intestine placement
- abnormal intrathoracic topology of vagus nerve
- abnormal left-right axis patterning
- abnormal limb bud morphology
- abnormal mandible morphology
- abnormal maxilla morphology
- abnormal midbrain morphology
- abnormal nasal cavity morphology
- abnormal nasal septum morphology
- abnormal neural tube morphology
- abnormal olfactory bulb morphology
- abnormal optic cup morphology
- abnormal optic stalk morphology
- abnormal palate morphology
- abnormal pancreas topology
- abnormal pineal gland morphology
- abnormal placenta morphology
- abnormal placental labyrinth vasculature morphology
- abnormal proximal convoluted tubule morphology
- abnormal rib morphology
- abnormal right lung morphology
- abnormal subclavian artery origin
- abnormal testis morphology
- abnormal umbilical vein topology
- abnormal ventral pancreas morphology
- abnormal vertebral arch morphology
- abnormal vertebral artery origin
- abnormal vertebral body morphology
- abnormal viscerocranium morphology
- abnormal vitelline vein connection
- absent Rathke's pouch
- absent adenohypophysis
- absent brain internal capsule
- absent canalicular internal carotid artery segment
- absent connection between subcutaneous lymph vessels and lymph sac
- absent corpus callosum
- absent ductus venosus valve
- absent floor plate
- absent hypoglossal nerve
- absent intracranial segment of vertebral artery
- absent intrahepatic inferior vena cava segment
- absent oculomotor nerve
- absent olfactory bulb
- absent optic chiasm
- absent parasellar internal carotid artery
- absent segment of posterior cerebral artery
- absent spleen
- absent sublingual gland
- absent superior cervical ganglion
- absent vertebral body
- anastomosis between internal carotid artery and basilar artery
- anomalous pulmonary venous connection
- anophthalmia
- atrial septal defect
- atrial situs inversus
- bifid ureter
- broad limb buds
- cerebellum hypoplasia
- cleft palate
- cleft upper lip
- common atrium
- decreased corpus callosum size
- decreased tongue size
- dextrocardia
- dilated brain ventricles
- double outlet left ventricle
- double outlet right ventricle
- enlarged liver sinusoidal spaces
- enlarged pericardium
- exencephaly
- fusion of vertebral arches
- heterochrony
- heterotaxia
- holoprosencephaly
- inverse situs of great intrathoracic arteries
- left atrial isomerism
- left pulmonary isomerism
- liver cysts
- liver fibrosis
- liver hemorrhage
- mandible hypoplasia
- microphthalmia
- muscular ventricular septal defect
- neonatal lethality complete penetrance
- perimembraneous ventricular septal defect
- perinatal lethality complete penetrance
- persistent right 6th pharyngeal arch artery
- persistent right dorsal aorta
- placenta hemorrhage
- placenta necrosis
- polydactyly
- preaxial polydactyly
- retro-esophageal left subclavian artery
- right aortic arch
- small Rathke's pouch
- small dorsal root ganglion
- small olfactory bulb
- small placenta
- small superior cervical ganglion
- spleen hypoplasia
- subcutaneous edema
- symmetric azygos veins
- thin facial nerve
- thin hypoglossal nerve
- thin motoric part of trigeminal nerve
- thoracoschisis
- transposition of great arteries
role in cell
- generation
- assembly
- expansion
- ciliary gating in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- cilia
- Plasma Membrane
- basal bodies
- centrosome
- axonemes
- intercellular junctions
- cytosol
- connecting cilia
- ciliary rootlet
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Rpgrip1l gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cochlea development
- cerebellum development
- establishment or maintenance of cell polarity
- nose development
- olfactory bulb development
- determination of left/right symmetry
- negative regulation of G-protein coupled receptor protein signaling pathway
- pericardium development
- neural tube patterning
- corpus callosum development
- retinal rod cell development
- regulation of smoothened signaling pathway
- lateral ventricle development
- kidney development
- in utero embryonic development
- liver development
- establishment of planar polarity
- embryonic forelimb morphogenesis
- embryonic hindlimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- ciliary rootlet
- photoreceptor connecting cilium
- cilium basal body
- axoneme
- plasma membrane
- nucleoplasm
- centrosome
- axonemal microtubule
- tight junction
- cell-cell junction
- cytoplasm
- cilium
- cytosol
- ciliary transition zone
Molecular Function
What the gene product does at the molecular level
- protein binding
- thromboxane A2 receptor binding