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RPGRIP1
May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. Belongs to the RPGRIP1 family. 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. 6 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Unknown function |
| Chromosomal Location of human Ortholog: 14q11.2 |
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Cellular Component:
axoneme; ciliary rootlet; photoreceptor connecting cilium; photoreceptor distal connecting cilium
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Molecular Function:
protein binding; thromboxane A2 receptor binding
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Biological Process:
neural precursor cell proliferation; non-motile cilium assembly; response to stimulus; retinal rod cell development; visual perception
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Disease: Cone-rod Dystrophy 13; Leber Congenital Amaurosis 6
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Reference #:
Q96KN7
(UniProtKB)
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Alt. Names/Synonyms: CORD13; DKFZp686P0897; LCA6; retinitis pigmentosa GTPase regulator interacting protein 1; RGI1; RGRIP; RPGR interacting protein 1; RPGR-interacting protein 1; RPGR1; RPGRIP; RPGRIP1; RPGRIP1d; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
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Gene Symbols: RPGRIP1
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Molecular weight:
146,682 Da
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Basal Isoelectric point:
5.47
Predict pI for various phosphorylation states
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