| Gene Symbol |
RPGRIP1L
|
| Entrez Gene |
23322
|
| Alt Symbol |
CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
RPGRIP1-like
|
| Other Description |
RPGR-interacting protein 1-like protein|fantom homolog|nephrocystin-8|protein fantom|protein phosphatase 1, regulatory subunit 134
|
| Swissprots |
A0PJ88 Q68CZ1 Q9Y2K8
|
| Accessions |
EAW82810 Q68CZ1 AB023222 BAA76849 AK026552 AK093307 AK096333 AK304790 BAG65540 AK307929 AK308390 BC017977 AAH17977 BC136433 AAI36434 BM683568 BQ576116 BX340768 CD674885 CR749645 CAH18439 DA156084 DC423209 EF565106 R45454 XM_005255867 XP_005255924 XM_005255868 XP_005255925 XM_005255869 XP_005255926 XM_005255871 XP_005255928 XM_011522968 XP_011521270 XM_011522969 XP_011521271 XM_011522970 XP_011521272 XM_011522971 XP_011521273 XM_011522972 XP_011521274 XM_011522973 XP_011521275 XM_011522974 XP_011521276 XR_933260 NM_001127897 NP_001121369 NM_001308334 NP_001295263 NM_015272 NP_056087
|
| 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 Location |
Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:21685204}. 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.
|
| 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:0000269|PubMed:17434869, ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:17558409, ECO:0000269|PubMed:19464661}.
|