X-linked retinitis pigmentosa GTPase regulator (RPGR, RP3, XLRP3)

Function

• guanine-nucleotide releasing factor
• may play a role in ciliogenesis
  • probably regulates cilia formation by regulating actin stress filaments & cell contractility
• interacts with PDE6D & RPGRIP1
• interacts with NPM1
• interacts with RPGRIP1L

Structure

• contains 6 RCC1 repeats
• prenylated

Compartment

• Golgi (putative)
• cytoplasm, cytoskeleton, cilium basal body (putative)
• centrosome

Alternative splicing

• named isoforms=5
• additional isoforms seem to exist

Expression

• expressed in heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas, fetal retinal pigment epithelium
• isoform 3 is found only in the retina
• colocalizes with RPGRIP1 in the outer segment of rod photoreceptors & cone outer segments

Pathology

• defects in the RPGR gene are the cause of
  • X-linked retinitis pigmentosa type 3
  • retinitis pigmentosa with deafness & sinorespiratory infections (RPDSI)
  • X-linked cone-rod dystrophy 1
  • macular degeneration X- linked atrophic (Mdxla)

More general terms

• guanine nucleotide exchange factor
• prenyl protein

Additional terms

• retinitis pigmentosa type 3 (RP3)
• retinitis pigmentosa, X-linked with deafness & sinorespiratory infections
• RPGR-interacting protein 1; X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)
• X-linked cone-rod dystrophy

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6103
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6103
• OMIM: https://mirror.omim.org/entry/300029
• OMIM: https://mirror.omim.org/entry/300455
• OMIM: https://mirror.omim.org/entry/300834
• OMIM: https://mirror.omim.org/entry/304020
• OMIM: https://mirror.omim.org/entry/312610
• UniProt: http://www.uniprot.org/uniprot/Q92834.html