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Ask your administrator if you think this is wrong. ======= RPGR ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: RPGR * **<color #00a2e8>Official Name</color>**: retinitis pigmentosa GTPase regulator * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6103|6103]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92834|Q92834]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RPGR&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RPGR|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/312610|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: N/A <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |RCC1| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |sperm flagellum| |intraciliary transport| |photoreceptor outer segment| |protein transport along microtubule| |microtubule-based protein transport| |guanyl-nucleotide exchange factor activity| |ciliary basal body| |transport along microtubule| |cytoskeleton-dependent intracellular transport| |microtubule-based transport| |visual perception| |sensory perception of light stimulus| |protein-containing complex localization| |microtubule-based movement| |cilium assembly| |cilium organization| |plasma membrane bounded cell projection assembly| |cell projection assembly| |centrosome| |microtubule-based process| |organelle assembly| |sensory perception| |Golgi apparatus| |intracellular protein transport| |plasma membrane bounded cell projection organization| |cell projection organization| |nervous system process| |RNA binding| |protein transport| |intracellular transport| |peptide transport| |movement of cell or subcellular component| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |establishment of localization in cell| |nitrogen compound transport| |system process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp407|Thapsigargin 0.005μM R07 exp407]]|-2.11| |[[:results:exp400|Senexin-A 25μM R07 exp400]]|-1.75| |[[:results:exp20|Etoposide 10μM R00 exp20]]|-1.71| |[[:results:exp280|Daidzin 10μM R06 exp280]]|1.71| |[[:results:exp114|A-196 10μM R03 exp114]]|1.88| |[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|2| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 18945 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.45 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='RPGR Expression in NALM6 Cells: 3.45'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1