======= IQCB1 ======= == Gene Information == * **Official Symbol**: IQCB1 * **Official Name**: IQ motif containing B1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9657|9657]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q15051|Q15051]] * **Interactions**: [[https://thebiogrid.org/search.php?search=IQCB1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20IQCB1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/609237|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]. * **UniProt Summary**: Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655). {ECO:0000269|PubMed:23446637, ECO:0000269|PubMed:25552655}. |IQ| |maintenance of animal organ identity| |photoreceptor cell maintenance| |photoreceptor connecting cilium| |intercellular bridge| |photoreceptor outer segment| |retina homeostasis| |mitotic spindle| |ciliary basal body-plasma membrane docking| |centriole| |microtubule cytoskeleton| |organelle localization by membrane tethering| |membrane docking| |tissue homeostasis| |calmodulin binding| |multicellular organismal homeostasis| |anatomical structure homeostasis| |cilium assembly| |enzyme binding| |cilium organization| |plasma membrane bounded cell projection assembly| |cell projection assembly| |centrosome| |organelle localization| |negative regulation of cell differentiation| |organelle assembly| |negative regulation of developmental process| |plasma membrane bounded cell projection organization| |cell projection organization| |homeostatic process| |regulation of cell differentiation| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|1.82| |[[:results:exp219|A-395N 10μM R05 exp219]]|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**: 14729 * **Expression level (log2 read counts)**: 6.42 {{:chemogenomics:nalm6 dist.png?nolink |}}