Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OT4BHUGQ)

• DOT Name: Acetylcholinesterase collagenic tail peptide (COLQ)
• Synonyms: AChE Q subunit; Acetylcholinesterase-associated collagen
• Gene Name: COLQ
• Related Disease:
  Atopic dermatitis
  Congenital myasthenic syndrome 5
  Diverticulitis
  Esophageal adenocarcinoma
  Esophageal squamous cell carcinoma
  Fibrosarcoma
  Gastric adenocarcinoma
  Neoplasm
  Rheumatoid arthritis
  Syndactyly-telecanthus-anogenital and renal malformations syndrome
  Isolated congenital microcephaly
  Respiratory failure
  Alzheimer disease
  Congenital myasthenic syndrome
  Dementia
  Nasopharyngeal carcinoma
• UniProt ID: COLQ_HUMAN
• PDB ID: 1VZJ
• Pfam ID: PF01391
• Sequence:
  MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISAALPSLDQKKRGGHKACCLLTPPPPP
  LFPPPFFRGGRSPLLSPDMKNLMLELETSQSPCMQGSLGSPGPPGPQGPPGLPGKTGPKG
  EKGELGRPGRKGRPGPPGVPGMPGPIGWPGPEGPRGEKGDLGMMGLPGSRGPMGSKGYPG
  SRGEKGSRGEKGDLGPKGEKGFPGFPGMLGQKGEMGPKGEPGIAGHRGPTGRPGKRGKQG
  QKGDSGVMGPPGKPGPSGQPGRPGPPGPPPAGQLIMGPKGERGFPGPPGRCLCGPTMNVN
  NPSYGESVYGPSSPRVPVIFVVNNQEELERLNTQNAIAFRRDQRSLYFKDSLGWLPIQLT
  PFYPVDYTADQHGTCGDGLLQPGEECDDGNSDVGDDCIRCHRAYCGDGHRHEGVEDCDGS
  DFGYLTCETYLPGSYGDLQCTQYCYIDSTPCRYFT
• Function: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
• Tissue Specificity: Found at the end plate of skeletal muscle.

Molecular Interaction Atlas (MIA) of This DOT

16 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Atopic dermatitis	DISTCP41	Strong	Genetic Variation	[1]
Congenital myasthenic syndrome 5	DISJRCI1	Strong	Autosomal recessive	[2]
Diverticulitis	DIS1AK7Q	Strong	Genetic Variation	[3]
Esophageal adenocarcinoma	DISODWFP	Strong	Genetic Variation	[4]
Esophageal squamous cell carcinoma	DIS5N2GV	Strong	Biomarker	[4]
Fibrosarcoma	DISWX7MU	Strong	Biomarker	[5]
Gastric adenocarcinoma	DISWWLTC	Strong	Biomarker	[6]
Neoplasm	DISZKGEW	Strong	Biomarker	[5]
Rheumatoid arthritis	DISTSB4J	Strong	Biomarker	[7]
Syndactyly-telecanthus-anogenital and renal malformations syndrome	DISZA8BN	Strong	Genetic Variation	[8]
Isolated congenital microcephaly	DISUXHZ6	moderate	Biomarker	[9]
Respiratory failure	DISVMYJO	moderate	Genetic Variation	[9]
Alzheimer disease	DISF8S70	Limited	Genetic Variation	[10]
Congenital myasthenic syndrome	DISJLG2T	Limited	Biomarker	[11]
Dementia	DISXL1WY	Limited	Biomarker	[10]
Nasopharyngeal carcinoma	DISAOTQ0	Limited	Biomarker	[12]

6 Drug(s) Affected the Gene/Protein Processing of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Acetaminophen	DMUIE76	Approved	Acetaminophen decreases the expression of Acetylcholinesterase collagenic tail peptide (COLQ).	[13]
Doxorubicin	DMVP5YE	Approved	Doxorubicin decreases the expression of Acetylcholinesterase collagenic tail peptide (COLQ).	[14]
Cisplatin	DMRHGI9	Approved	Cisplatin decreases the expression of Acetylcholinesterase collagenic tail peptide (COLQ).	[15]
Benzo(a)pyrene	DMN7J43	Phase 1	Benzo(a)pyrene decreases the expression of Acetylcholinesterase collagenic tail peptide (COLQ).	[16]
PMID28460551-Compound-2	DM4DOUB	Patented	PMID28460551-Compound-2 decreases the expression of Acetylcholinesterase collagenic tail peptide (COLQ).	[17]
KOJIC ACID	DMP84CS	Investigative	KOJIC ACID increases the expression of Acetylcholinesterase collagenic tail peptide (COLQ).	[18]

References

• [1] Investigation of the eotaxin gene -426C-->T, -384A-->G and 67G-->a single-nucleotide polymorphisms and atopic dermatitis in Italian children using family-based association methods.Clin Exp Dermatol. 2008 May;33(3):316-21. doi: 10.1111/j.1365-2230.2007.02672.x. Epub 2008 Feb 28.
• [2] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [3] Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.Nat Commun. 2017 Jun 6;8:15789. doi: 10.1038/ncomms15789.
• [4] Expression, regulation and targeting of receptor tyrosine kinases in esophageal squamous cell carcinoma.Mol Cancer. 2018 Feb 19;17(1):54. doi: 10.1186/s12943-018-0790-4.
• [5] IFN- is required for cytotoxic T cell-dependent cancer genome immunoediting.Nat Commun. 2017 Feb 24;8:14607. doi: 10.1038/ncomms14607.
• [6] Role of insulin-like growth factor-binding proteins in the pathophysiology and tumorigenesis of gastroesophageal cancers.Tumour Biol. 2015 Nov;36(11):8247-57. doi: 10.1007/s13277-015-3972-3. Epub 2015 Sep 14.
• [7] Increased antibody levels to stage-specific Epstein-Barr virus antigens in systemic autoimmune diseases reveal a common pathology.Scand J Clin Lab Invest. 2019 Feb-Apr;79(1-2):7-16. doi: 10.1080/00365513.2018.1550807. Epub 2019 Feb 6.
• [8] CMS HCC risk scores and home health patient experience measures.Am J Manag Care. 2018 Oct 1;24(10):e319-e324.
• [9] COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review.Transl Neurosci. 2017 Jul 20;8:65-69. doi: 10.1515/tnsci-2017-0011. eCollection 2017.
• [10] CSF/serum albumin ratio in dementias: a cross-sectional study on 1861 patients.Neurobiol Aging. 2017 Nov;59:1-9. doi: 10.1016/j.neurobiolaging.2017.06.028. Epub 2017 Jul 11.
• [11] Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.J Clin Neurosci. 2020 Feb;72:468-471. doi: 10.1016/j.jocn.2019.12.007. Epub 2019 Dec 10.
• [12] Anti-Epstein-Barr virus antibodies in Beijing during 2013-2017: What we have found in the different patients.PLoS One. 2018 Mar 1;13(3):e0193171. doi: 10.1371/journal.pone.0193171. eCollection 2018.
• [13] Multiple microRNAs function as self-protective modules in acetaminophen-induced hepatotoxicity in humans. Arch Toxicol. 2018 Feb;92(2):845-858.
• [14] Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
• [15] Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
• [16] Identification of a transcriptomic signature of food-relevant genotoxins in human HepaRG hepatocarcinoma cells. Food Chem Toxicol. 2020 Jun;140:111297. doi: 10.1016/j.fct.2020.111297. Epub 2020 Mar 28.
• [17] Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
• [18] Toxicogenomics of kojic acid on gene expression profiling of a375 human malignant melanoma cells. Biol Pharm Bull. 2006 Apr;29(4):655-69.