======= TBC1D24 =======
== Gene Information ==
* **Official Symbol**: TBC1D24
* **Official Name**: TBC1 domain family member 24
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57465|57465]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q9ULP9|Q9ULP9]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=TBC1D24&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TBC1D24|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/613577|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].
* **UniProt Summary**: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. {ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691}.
|TLD|
|TBC|
|terminal bouton|
|neuromuscular junction|
|regulation of cilium assembly|
|cytoplasmic vesicle membrane|
|regulation of plasma membrane bounded cell projection assembly|
|regulation of cell projection assembly|
|regulation of organelle assembly|
|GTPase activator activity|
|positive regulation of GTPase activity|
|regulation of GTPase activity|
|cell junction|
|neuron projection development|
|regulation of plasma membrane bounded cell projection organization|
|regulation of cell projection organization|
|positive regulation of hydrolase activity|
|neuron development|
|regulation of cellular component biogenesis|
|neuron differentiation|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|regulation of hydrolase activity|
|regulation of organelle organization|
|positive regulation of catalytic activity|
|generation of neurons|
|neurogenesis|
|cell development|
|positive regulation of molecular function|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp38|Wortmannin 5μM R00 exp38]]|-1.92|
|[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|-1.83|
|[[:results:exp528|TGF-beta1 44ng/ml R08 exp528]]|1.72|
|[[:results:exp287|HMS-I2 5μM R06 exp287]]|1.78|
|[[:results:exp232|Epothilone-D 0.004 to 0.006μM on day4 R05 exp232]]|1.86|
No correlation found to any other genes in chemogenomics.
Global Fraction of Cell Lines Where Essential: 1/739
^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|1/17|
|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**: 4399
* **Expression level (log2 read counts)**: 5.81
{{:chemogenomics:nalm6 dist.png?nolink |}}