======= TBC1D7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TBC1D7
  * **<color #00a2e8>Official Name</color>**: TBC1 domain family member 7
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51256|51256]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9P0N9|Q9P0N9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TBC1D7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TBC1D7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612655|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question. {ECO:0000269|PubMed:22795129}.

<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'>
|TBC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|negative regulation of cilium assembly|
|negative regulation of plasma membrane bounded cell projection assembly|
|negative regulation of organelle assembly|
|negative regulation of TOR signaling|
|regulation of cilium assembly|
|activation of GTPase activity|
|regulation of TOR signaling|
|positive regulation of protein ubiquitination|
|positive regulation of protein modification by small protein conjugation or removal|
|ciliary basal body|
|Rab GTPase binding|
|negative regulation of cell projection organization|
|regulation of plasma membrane bounded cell projection assembly|
|regulation of protein ubiquitination|
|regulation of cell projection assembly|
|regulation of organelle assembly|
|regulation of protein modification by small protein conjugation or removal|
|cytoplasmic vesicle|
|GTPase activator activity|
|negative regulation of organelle organization|
|positive regulation of GTPase activity|
|regulation of GTPase activity|
|negative regulation of intracellular signal transduction|
|response to growth factor|
|regulation of plasma membrane bounded cell projection organization|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|positive regulation of hydrolase activity|
|regulation of cellular component biogenesis|
|positive regulation of protein modification process|
|negative regulation of signal transduction|
|regulation of hydrolase activity|
|regulation of organelle organization|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of catalytic activity|
|positive regulation of cellular protein metabolic process|
|negative regulation of response to stimulus|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp131|L-74142 5μM R03 exp131]]|-2.13|
|[[:results:exp460|BML-284 0.09μM R08 exp460]]|-2.12|
|[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|-1.95|
|[[:results:exp67|BVD-523 15μM R02 exp67]]|-1.94|
|[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|-1.89|
|[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|-1.88|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|-1.83|
|[[:results:exp357|Dorsomorphin 5μM R07 exp357]]|-1.74|
|[[:results:exp515|PU-H71 1μM R08 exp515]]|-1.74|
|[[:results:exp290|LLY-283 2.6μM R06 exp290]]|-1.73|
|[[:results:exp365|I-BRD9 4μM R07 exp365]]|1.71|
|[[:results:exp504|MK2206 4μM R08 exp504]]|2.01|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:t:tsc2|TSC2]]|0.493|
|[[:human genes:t:tsc1|TSC1]]|0.473|
|[[:human genes:f:fam122a|FAM122A]]|0.453|
|[[:human genes:c:cdk8|CDK8]]|0.418|
|[[:human genes:c:cdc73|CDC73]]|0.402|
|[[:human genes:p:pds5b|PDS5B]]|0.4|
</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>**: 18524
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.46 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TBC1D7 Expression in NALM6 Cells: 5.46'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>