| Gene Information | |
|---|---|
| Gene Name | RPGRIP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1286 |
| Protein Names | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGR-interacting protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 424 ( ENSG00000092200 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q96KN7 |
| Gene Card | RPGRIP1 |
| Uniprot ID | Q96KN7 |
| Pfam | PF00168; PF11618; PF18111 |
| In ASD | no |
| Allosteric Prediction | no (-1.290926467) |
| Ortholog in Animals | Alpaca_ RPGRIP1 ( ortholog_one2one ) Dog_ RPGRIP1 ( ortholog_one2one ) GuineaPig_ RPGRIP1 ( ortholog_one2one ) Macaque_ RPGRIP1 ( ortholog_one2one ) Mouse_ Rpgrip1 ( ortholog_one2one ) Pig_ RPGRIP1 ( ortholog_one2one ) Rat_ Rpgrip1 ( ortholog_one2one ) Rabbit_ RPGRIP1 ( ortholog_one2one ) |
| Ohnologs | RPGRIP1L |
| Paralogs | RPGRIP1L |
| Tissue | testis |
| Tissue Specificity | Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments. {ECO:0000269|PubMed:10958647, ECO:0000269|PubMed:10958648, ECO:0000269|PubMed:12140192}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4QAM (X-ray 1.83A ) |
| DBSNP | rs1040904 rs6571751 rs1325466987 rs190985984 rs10151259 rs147586703 rs34067949 rs74034910 rs3748360 rs3748360 rs200325360 rs1010290273 rs61751268 rs758652031 rs142796310 rs372647080 rs28937883 rs373515194 rs772480252 rs181758389 rs61751274 rs35810926 rs3748361 rs201521970 rs17103671 rs34725281 |
| Subcellular location [CC] | Cell projection, cilium {ECO:0000269|PubMed:21685204}. Note=Situated between the axonemal microtubules and the plasma membrane (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity). Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity). {ECO:0000250|UniProtKB:Q9EPQ2}. |
| Mouse PG classification | HPG |
| click here to return to the previous page | |