======= OFD1 ======= == Gene Information == * **Official Symbol**: OFD1 * **Official Name**: OFD1 centriole and centriolar satellite protein * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8481|8481]] * **UniProt**: [[https://www.uniprot.org/uniprot/O75665|O75665]] * **Interactions**: [[https://thebiogrid.org/search.php?search=OFD1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20OFD1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300170|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]. * **UniProt Summary**: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity). {ECO:0000250}. No Pfam Domain information is available for this gene. |epithelial cilium movement involved in determination of left/right asymmetry| |centriole replication| |centriole assembly| |gamma-tubulin binding| |epithelial cilium movement involved in extracellular fluid movement| |extracellular transport| |centriolar satellite| |centrosome duplication| |mitotic spindle assembly| |alpha-tubulin binding| |cilium movement| |mitotic spindle organization| |centrosome cycle| |microtubule organizing center organization| |ciliary basal body-plasma membrane docking| |spindle assembly| |microtubule cytoskeleton organization involved in mitosis| |determination of left/right symmetry| |determination of bilateral symmetry| |specification of symmetry| |G2/M transition of mitotic cell cycle| |cell cycle G2/M phase transition| |ciliary basal body| |centriole| |mitotic nuclear division| |spindle organization| |organelle localization by membrane tethering| |membrane docking| |microtubule-based transport| |regulation of G2/M transition of mitotic cell cycle| |cilium| |regulation of cell cycle G2/M phase transition| |mitotic cell cycle phase transition| |microtubule-based movement| |cell cycle phase transition| |nuclear division| |organelle fission| |cilium assembly| |cilium organization| |regulation of mitotic cell cycle phase transition| |pattern specification process| |plasma membrane bounded cell projection assembly| |regulation of cell cycle phase transition| |cell projection assembly| |microtubule cytoskeleton organization| |centrosome| |organelle localization| |mitotic cell cycle process| |regulation of mitotic cell cycle| |microtubule-based process| |mitotic cell cycle| |regulation of cell cycle process| |organelle assembly| |cell cycle process| |identical protein binding| |cytoskeleton organization| |plasma membrane bounded cell projection organization| |cell projection organization| |regulation of cell cycle| |cell cycle| |movement of cell or subcellular component| |extracellular region| |membrane| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp37|Wortmannin 0.5μM R00 exp37]]|1.74| |[[:results:exp437|Ethanol 0.003 R08 exp437]]|1.98| |[[:results:exp80|RO-3307 4.7μM R02 exp80]]|2.64| |[[:results:exp374|Latrunculin-B 10μM R07 exp374]]|5.82| |[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|6.31| |[[:results:exp414|Tozasertib 0.1μM R07 exp414]]|6.93| ^Gene^Correlation^ |[[:human genes:c:cradd|CRADD]]|0.709| |[[:human genes:c:casp2|CASP2]]|0.693| |[[:human genes:o:odf2|ODF2]]|0.664| |[[:human genes:c:ccdc41|CCDC41]]|0.661| |[[:human genes:k:kiaa0753|KIAA0753]]|0.656| |[[:human genes:c:c2cd3|C2CD3]]|0.645| |[[:human genes:p:pidd|PIDD]]|0.644| |[[:human genes:p:pibf1|PIBF1]]|0.621| |[[:human genes:f:fopnl|FOPNL]]|0.587| |[[:human genes:c:cep128|CEP128]]|0.581| |[[:human genes:c:cep76|CEP76]]|0.576| |[[:human genes:c:cep120|CEP120]]|0.576| |[[:human genes:n:nin|NIN]]|0.565| |[[:human genes:s:sclt1|SCLT1]]|0.56| |[[:human genes:c:c14orf80|C14orf80]]|0.559| |[[:human genes:c:c16orf59|C16orf59]]|0.551| |[[:human genes:a:ankrd26|ANKRD26]]|0.547| |[[:human genes:c:cep78|CEP78]]|0.544| |[[:human genes:h:hyls1|HYLS1]]|0.515| |[[:human genes:i:ipp|IPP]]|0.474| |[[:human genes:t:tubd1|TUBD1]]|0.474| |[[:human genes:r:rttn|RTTN]]|0.449| |[[:human genes:t:tube1|TUBE1]]|0.416| |[[:human genes:k:kiaa0586|KIAA0586]]|0.411| 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| == Essentiality in NALM6 == * **Essentiality Rank**: 11799 * **Expression level (log2 read counts)**: 7.4 {{:chemogenomics:nalm6 dist.png?nolink |}}