Retinitis pigmentosa GTPase regulator

4JHN, 4JHP, 4QAM610319893ENSG00000156313ENSMUSG00000031174Q92834Q9R0X5NM_000328NM_001023582NM_001034853NM_011285NP_001354177NP_001354178NP_001354179NP_001354180NP_035415X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.

[9] This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors.

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.

[10] Alternatively, the RPGRconst isoform contains a putative prenylation domain on its C-terminal end[10] which is involved in posttranslational modification and allows membrane-association and protein trafficking.

[18] The C-terminal domain of RPGRORF15 has been shown to interact with whirlin, a ciliary protein that is mutated in Usher Syndrome.