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Ask your administrator if you think this is wrong. ======= RP1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: RP1 * **<color #00a2e8>Official Name</color>**: RP1 axonemal microtubule associated * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6101|6101]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P56715|P56715]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RP1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RP1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603937|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]. * **<color #00a2e8>UniProt Summary</color>**: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). {ECO:0000250}. <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'> |DCX| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |positive regulation of non-motile cilium assembly| |retinal rod cell development| |photoreceptor cell outer segment organization| |retinal cone cell development| |retinal cone cell differentiation| |regulation of non-motile cilium assembly| |phototransduction, visible light| |camera-type eye photoreceptor cell differentiation| |positive regulation of cilium assembly| |microtubule associated complex| |eye photoreceptor cell development| |photoreceptor cell maintenance| |photoreceptor connecting cilium| |phototransduction| |ciliary tip| |eye photoreceptor cell differentiation| |photoreceptor cell development| |detection of visible light| |retina morphogenesis in camera-type eye| |photoreceptor inner segment| |neural retina development| |photoreceptor cell differentiation| |photoreceptor outer segment| |detection of light stimulus| |axoneme assembly| |positive regulation of organelle assembly| |retina homeostasis| |regulation of cilium assembly| |microtubule bundle formation| |positive regulation of plasma membrane bounded cell projection assembly| |axoneme| |camera-type eye morphogenesis| |cellular response to light stimulus| |detection of external stimulus| |detection of abiotic stimulus| |retina development in camera-type eye| |eye morphogenesis| |cellular response to radiation| |tissue homeostasis| |regulation of plasma membrane bounded cell projection assembly| |regulation of cell projection assembly| |regulation of organelle assembly| |visual perception| |sensory perception of light stimulus| |microtubule binding| |sensory organ morphogenesis| |response to light stimulus| |camera-type eye development| |cellular response to abiotic stimulus| |cellular response to environmental stimulus| |microtubule| |multicellular organismal homeostasis| |anatomical structure homeostasis| |cilium assembly| |eye development| |visual system development| |cilium organization| |sensory system development| |positive regulation of cell projection organization| |response to radiation| |plasma membrane bounded cell projection assembly| |cell projection assembly| |microtubule cytoskeleton organization| |positive regulation of cellular component biogenesis| |sensory organ development| |positive regulation of organelle organization| |microtubule-based process| |detection of stimulus| |regulation of plasma membrane bounded cell projection organization| |regulation of cell projection organization| |organelle assembly| |neuron development| |animal organ morphogenesis| |regulation of cellular component biogenesis| |sensory perception| |neuron differentiation| |cytoskeleton organization| |plasma membrane bounded cell projection organization| |response to abiotic stimulus| |cell projection organization| |positive regulation of cellular component organization| |regulation of organelle organization| |nervous system process| |generation of neurons| |neurogenesis| |homeostatic process| |cell development| |intracellular signal transduction| |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:exp234|Ethanol 0.01 R05 exp234]]|1.97| </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: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 7094 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -5.01 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='RP1 Expression in NALM6 Cells: -5.01'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1