======= RP1L1 ======= == Gene Information == * **Official Symbol**: RP1L1 * **Official Name**: RP1 like 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=94137|94137]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8IWN7|Q8IWN7]] * **Interactions**: [[https://thebiogrid.org/search.php?search=RP1L1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RP1L1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/608581|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]. * **UniProt Summary**: Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity). {ECO:0000250}. |DCX| |photoreceptor cell maintenance| |photoreceptor connecting cilium| |photoreceptor cell development| |photoreceptor cell differentiation| |photoreceptor outer segment| |axoneme assembly| |retina homeostasis| |microtubule bundle formation| |axoneme| |retina development in camera-type eye| |tissue homeostasis| |visual perception| |sensory perception of light stimulus| |camera-type eye development| |microtubule| |multicellular organismal homeostasis| |anatomical structure homeostasis| |cilium assembly| |eye development| |visual system development| |cilium organization| |sensory system development| |plasma membrane bounded cell projection assembly| |cell projection assembly| |microtubule cytoskeleton organization| |sensory organ development| |microtubule-based process| |organelle assembly| |neuron development| |sensory perception| |neuron differentiation| |cytoskeleton organization| |plasma membrane bounded cell projection organization| |cell projection organization| |nervous system process| |generation of neurons| |neurogenesis| |homeostatic process| |cell development| |intracellular signal transduction| |system process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp94|Nocodazole 0.1μM R03 exp94]]|-1.72| |[[:results:exp46|HMS-I1 1μM R01 exp46]]|1.82| |[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|1.9| |[[:results:exp355|Dinaciclib 0.007μM R07 exp355]]|1.96| No correlation found to any other genes in chemogenomics. 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| == Essentiality in NALM6 == * **Essentiality Rank**: 18826 * **Expression level (log2 read counts)**: 3.48 {{:chemogenomics:nalm6 dist.png?nolink |}}