Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= COLQ ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: COLQ * **<color #00a2e8>Official Name</color>**: collagen like tail subunit of asymmetric acetylcholinesterase * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8292|8292]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y215|Q9Y215]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COLQ&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COLQ|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603033|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. * **<color #00a2e8>UniProt Summary</color>**: N/A <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'> |Collagen| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |acetylcholine catabolic process| |acetylcholine catabolic process in synaptic cleft| |acetylcholine metabolic process| |regulation of synaptic growth at neuromuscular junction| |acetate ester metabolic process| |skeletal muscle acetylcholine-gated channel clustering| |regulation of neuromuscular junction development| |synaptic cleft| |hormone catabolic process| |neurotransmitter catabolic process| |synaptic transmission, cholinergic| |postsynaptic membrane organization| |neuromuscular junction development| |receptor clustering| |collagen trimer| |neuromuscular junction| |localization within membrane| |basement membrane| |postsynapse organization| |neurotransmitter metabolic process| |regulation of synapse assembly| |extracellular matrix structural constituent| |drug catabolic process| |heparin binding| |ammonium ion metabolic process| |hormone metabolic process| |regulation of synapse organization| |regulation of synapse structure or activity| |extracellular matrix| |establishment of protein localization to membrane| |synapse organization| |regulation of developmental growth| |extracellular matrix organization| |regulation of neurotransmitter levels| |collagen-containing extracellular matrix| |extracellular structure organization| |chemical synaptic transmission| |anterograde trans-synaptic signaling| |trans-synaptic signaling| |synaptic signaling| |protein localization to membrane| |drug metabolic process| |regulation of hormone levels| |cell junction| |regulation of growth| |membrane organization| |regulation of nervous system development| |regulation of cellular component biogenesis| |cell-cell signaling| |cellular protein localization| |cellular macromolecule localization| |extracellular space| |establishment of protein localization| |organic substance catabolic process| |cellular catabolic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' 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:exp443|SNS-032 15μM R08 exp443]]|-1.92| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </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>**: 5654 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.33 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='COLQ Expression in NALM6 Cells: 1.33'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1