InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RPGRIP1L

Summary

InnateDB Protein

IDBP-31105.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RPGRIP1L

Protein Name

RPGRIP1-like

Synonyms

CORS3; FTM; JBTS7; MKS5; NPHP8; PPP1R134;

Species

Homo sapiens

Ensembl Protein

ENSP00000369257

InnateDB Gene

IDBG-31103 (RPGRIP1L)

Protein Structure

UniProt Annotation

Function

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.

Disease Associations

Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome.Joubert syndrome 7 (JBTS7) [MIM:611560]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:17558407, ECO:0000269PubMed:17558409, ECO:0000269PubMed:22693042}. Note=The disease is caused by mutations affecting the gene represented in this entry.Meckel syndrome 5 (MKS5) [MIM:611561]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269PubMed:17558409, ECO:0000269PubMed:19430481}. Note=The disease is caused by mutations affecting the gene represented in this entry.COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. {ECO:0000269PubMed:19574260}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney. {ECO:0000269PubMed:17434869, ECO:0000269PubMed:17558407, ECO:0000269PubMed:17558409, ECO:0000269PubMed:19464661}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	36 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0031870	thromboxane A2 receptor binding

Biological Process

GO:0001701	in utero embryonic development
GO:0001822	kidney development
GO:0001889	liver development
GO:0007163	establishment or maintenance of cell polarity
GO:0007368	determination of left/right symmetry
GO:0007420	brain development
GO:0008589	regulation of smoothened signaling pathway
GO:0021532	neural tube patterning
GO:0021537	telencephalon development
GO:0021549	cerebellum development
GO:0021670	lateral ventricle development
GO:0021772	olfactory bulb development
GO:0022038	corpus callosum development
GO:0035108	limb morphogenesis
GO:0035115	embryonic forelimb morphogenesis
GO:0035116	embryonic hindlimb morphogenesis
GO:0042384	cilium assembly
GO:0043010	camera-type eye development
GO:0043584	nose development
GO:0045744	negative regulation of G-protein coupled receptor protein signaling pathway
GO:0060039	pericardium development
GO:0060271	cilium morphogenesis
GO:0060322	head development

Cellular Component

GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005911	cell-cell junction
GO:0005923	tight junction
GO:0005929	cilium
GO:0005930	axoneme
GO:0036064	ciliary basal body