InnateDB Protein
|
IDBP-31107.7
|
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
|
ENSP00000262135
|
InnateDB Gene
|
IDBG-31103 (RPGRIP1L)
|
Protein Structure
|
|
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 |
|
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]
|
|
|
Molecular Function |
|
Biological Process |
GO:0045744
|
negative regulation of G-protein coupled receptor protein signaling pathway
|
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000008
C2 domain
IPR021656
Protein of unknown function DUF3250
|
PFAM |
PF00168
PF11618
|
PRINTS |
PR00360
|
PIRSF |
|
SMART |
SM00239
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q68CZ1
|
PhosphoSite |
PhosphoSite-Q68CZ1
|
TrEMBL |
J3QLR9
|
UniProt Splice Variant |
|
Entrez Gene |
23322
|
UniGene |
Hs.709676
|
RefSeq |
NP_001121369
|
HUGO |
HGNC:29168
|
OMIM |
610937
|
CCDS |
CCDS45486
|
HPRD |
17204
|
IMGT |
|
EMBL |
AB023222
AC007497
AC007909
AC084795
BC017977
CR749645
|
GenPept |
AAH17977
BAA76849
CAH18439
|
|
|