| Gene Information | |
|---|---|
| Gene Name | RPGRIP1L |
| Organism | Homo sapiens (Human) |
| Gene Length | 1315 |
| Protein Names | Protein fantom (Nephrocystin-8) (RPGR-interacting protein 1-like protein) (RPGRIP1-like protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000103494 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q68CZ1 |
| Gene Card | RPGRIP1L |
| Uniprot ID | Q68CZ1 |
| Pfam | PF00168; PF11618; PF18111 |
| In ASD | no |
| Allosteric Prediction | no (-1.000444064) |
| Ortholog in Animals | Alpaca_ RPGRIP1L ( ortholog_one2one ) Dog_ RPGRIP1L ( ortholog_one2one ) GuineaPig_ RPGRIP1L ( ortholog_one2one ) Macaque_ RPGRIP1L ( ortholog_one2one ) Mouse_ Rpgrip1l ( ortholog_one2one ) Pig_ RPGRIP1L ( ortholog_one2one ) Rat_ Rpgrip1l ( ortholog_one2one ) Rabbit_ RPGRIP1L ( ortholog_one2one ) |
| Ohnologs | RPGRIP1 |
| Paralogs | RPGRIP1 |
| Tissue | NA |
| 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}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2YRB (NMR - ) |
| DBSNP | rs61747071 rs375776718 rs138155747 rs147331527 rs772900011 rs121918198 rs898062661 rs145572901 rs267607020 rs532768944 rs121918200 rs2302677 rs776795273 rs2111119 rs139974543 rs151332923 rs3213758 |
| Subcellular location [CC] | Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8CG73, ECO:0000269|PubMed:21685204}. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8CG73}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q8CG73}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions. Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8CG73}. |
| Mouse PG classification | HPG |
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