Sequence in raw or FASTA format:
RPGR retinitis pigmentosa GTPase regulator [Homo sapiens (human)]
|Entrez Gene ID||6103|
|Full Name||retinitis pigmentosa GTPase regulator|
|Synonyms||COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008].|
Retinitis pigmentosa-3, 300029 (3); Cone-rod dystrophy-1, 304020 (3);
|Homo sapiens (human)||RPGR||NP_000319.1|
|Pan troglodytes (chimpanzee)||RPGR||XP_003954016.1|
|Canis lupus familiaris (dog)||RPGR||NP_001003126.1|
|Mus musculus (house mouse)||Rpgr||NP_001171421.1|
|Rattus norvegicus (Norway rat)||Rpgr||XP_006256751.1|
|Danio rerio (zebrafish)||rpgrb||XP_005169406.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||rpgr||NP_001037872.1|
|GO:0006886||intracellular protein transport||TAS|
|GO:0042462||eye photoreceptor cell development||IEA|
|GO:0043547||positive regulation of GTPase activity||IEA|
|GO:0050896||response to stimulus||IEA|
|GO:0001750||photoreceptor outer segment||IDA|
|GO:0036064||ciliary basal body||ISS|
|GO:0005085||guanyl-nucleotide exchange factor activity||IEA|
|GO:0044822||poly(A) RNA binding||IDA|
What is the normal function of the RPGR gene?
The RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies suggest that it plays an important role in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input, including hearing, smell, and vision.
Several different versions (isoforms) of the RPGR protein are produced from the RPGR gene. One version contains a segment known as the ORF15 exon. This version of the RPGR protein is active (expressed) predominantly in the retina, which is the light-sensitive tissue at the back of the eye. Specifically, the ORF15-containing isoform is found in the retina's specialized light receptor cells (photoreceptors). Researchers suspect that this isoform may help maintain photoreceptors by regulating the function of cilia. Other isoforms of the RPGR protein are expressed in other parts of the body, where they are probably also involved in cilia function.
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