Version 5.4
Homo sapiens Protein: COLQ
Summary
InnateDB Protein IDBP-20806.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COLQ
Protein Name collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Synonyms EAD;
Species Homo sapiens
Ensembl Protein ENSP00000373298
InnateDB Gene IDBG-20804 (COLQ)
Protein Structure
UniProt Annotation
Function Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
Subcellular Localization Cell junction, synapse.
Disease Associations Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]: A rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions. {ECO:0000269PubMed:10665486, ECO:0000269PubMed:9758617}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Found at the end plate of skeletal muscle.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001507 acetylcholine catabolic process in synaptic cleft
GO:0008105 asymmetric protein localization
Cellular Component
GO:0005581 collagen trimer
GO:0005605 basal lamina
GO:0005615 extracellular space
GO:0030054 cell junction
GO:0045202 synapse
Protein Structure and Domains
PDB ID
InterPro IPR008160 Collagen triple helix repeat
IPR011936 Myxococcus cysteine-rich repeat
PFAM PF01391
PF13948
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y215
PhosphoSite PhosphoSite-Q9Y215
TrEMBL A0A024R2P2
UniProt Splice Variant
Entrez Gene 8292
UniGene Hs.679681
RefSeq NP_005668
HUGO HGNC:2226
OMIM 603033
CCDS CCDS33709
HPRD 04328
IMGT
EMBL AF057036 AF229117 AF229118 AF229119 AF229120 AF229121 AF229122 AF229123 AF229124 AF229125 AF229126 AJ225895 AK128401 AY150334 AY150336 AY150337 AY150338 AY150339 BC074828 BC074829 CH471055
GenPept AAC39927 AAF43195 AAF43196 AAF43197 AAF43198 AAF43199 AAF43200 AAF43201 AAF43202 AAH74828 AAH74829 AAO06814 AAO06816 AAO06817 AAO06818 AAO06819 BAG54671 CAA12648 EAW64239 EAW64241 EAW64248 EAW64249 EAW64250

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca