RPGRIP1

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq]

Full Name

retinitis pigmentosa GTPase regulator interacting protein 1

Function

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.

Biological Process

Biological Process neural precursor cell proliferationIEA:Ensembl
Biological Process non-motile cilium assemblyManual Assertion Based On ExperimentIBA:GO_Central
Biological Process response to stimulusIEA:UniProtKB-KW
Biological Process retinal rod cell developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process visual perceptionIEA:UniProtKB-KW

Cellular Location

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).

Involvement in disease

Leber congenital amaurosis 6 (LCA6):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Cone-rod dystrophy 13 (CORD13):
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.