This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about X-linked retinitis pigmentosa GTPase regulator-interacting protein 1.
Required for normal disk morphogenesis and disk organization from the outer segment of photoreceptor cells and for survival of photoreceptor cells. .
Human | |
---|---|
Gene Name: | RPGRIP1 |
Uniprot: | Q96KN7 |
Entrez: | 57096 |
Belongs to: |
---|
RPGRIP1 family |
CORD13; DKFZp686P0897; LCA6RGRIP; retinitis pigmentosa GTPase regulator interacting protein 1; RGI1; RPGR-interacting protein 1; RPGRIP; RPGRIP1d; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Mass (kDA):
146.682 kDA
Human | |
---|---|
Location: | 14q11.2 |
Sequence: | 14; NC_000014.9 (21287977..21351316) |
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.
Cell projection, cilium. 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).
PMID: 10958648 by Roepman R., et al. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
PMID: 10958647 by Boylan J.P., et al. Identification of a novel protein interacting with RPGR.