NP_001161987.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
29,286 Da
NCBI Official Full Name
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2
NCBI Official Synonym Full Names
retinitis pigmentosa GTPase regulator interacting protein 1
NCBI Official Synonym Symbols
nmf247; AA415034; 0610005A07Rik; 4930401L23Rik; 4930505G06Rik; A930002K18Rik [Similar Products]
NCBI Protein Information
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
UniProt Protein Name
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
UniProt Synonym Gene Names
UniProt Comments for RPGRIP1
RPGRIP1: Essential for RPGR function and is also required for normal disk morphogenesis. Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in RPGRIP1 are the cause of cone-rod dystrophy type 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. Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Belongs to the RPGRIP1 family. 6 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 14|14 C2
Cellular Component: axoneme; cell projection; ciliary rootlet; cilium; photoreceptor connecting cilium
Molecular Function: protein binding
Biological Process: eye photoreceptor cell development; response to stimulus; retina development in camera-type eye; visual perception
Research Articles on RPGRIP1
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Diseases associated with RPGRIP1 elisa kit
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