RPGR — Retinitis pigmentosa GTPase regulator
RPGR belongs to a gene co-expression module in 1 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
RPGR's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| CD4⁺ T cells | Chromatin Regulation DNA/chromatin regulation | ADI1, ASXL2, BTG3, CASP8, CHD3, CTSS, CWF19L2, DENND2D +17 more | View in SCUBA |
About the gene
| Synonyms | COD1, CORDX1, CRD, RP15, RP3 |
|---|---|
| Chromosome | X: 38269163-38327544 |
| Predicted location | Intracellular, Membrane |
| Essential gene | No |
| Protein class | Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins |
| Molecular function | Guanine-nucleotide releasing factor |
| Biological process | Cilium biogenesis/degradation, Sensory transduction, Vision |
Function
Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP. GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A. GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity).
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.