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Immunogen sequence: MREPEELMPD SGAVFTFGKS KFAENNPGKF WFKNDVPVHL SCGDEHSAVV TGNNKLYMFG SNNWGQLGLG SKSAISKPTC VKALKPEKVK LAACGRNHTL VSTEGGNVYA TGGNNEGQLG LGDTEERNTF HVISFFTSEH KIKQLSAGSN TSAALTEDGR LFMWGDNSEG QIGLKNVSNV CVPQQVTIGK PVSWISCGYY HSAFVTTDGE LYVFGEPENG KLGLPNQLLG NHRTPQLVSE IPEKVIQVAC GGEHTVVLTE; Positive Samples: Y79, Mouse heart; Cellular Location: Cytoplasm, Golgi apparatus, centrosome, cilium axoneme, cilium basal body, cytoskeleton, flagellum axoneme, microtubule organizing center
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.
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Protein Aliases: mRpgr; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; X-linked retinitis pigmentosa GTPase regulator
Gene Aliases: COD1; CORDX1; CRD; orf15; PCDX; RP15; RP3; Rp3h; RPGR; XLRP3
UniProt ID: (Human) Q92834, (Mouse) Q9R0X5
Entrez Gene ID: (Human) 6103, (Mouse) 19893, (Rat) 367733
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