Version 5.4
Homo sapiens Gene: COLQ
Summary
InnateDB Gene IDBG-20804.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COLQ
Gene Name collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Synonyms EAD
Species Homo sapiens
Ensembl Gene ENSG00000206561
Encoded Proteins
IDBP-20806
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-20810
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-20820
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-812286
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-812289
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:15450133-15521751
Strand Reverse strand
Band p25.1
Transcripts
ENST00000383788 ENSP00000373298
ENST00000383786 ENSP00000373296
ENST00000383781 ENSP00000373291
ENST00000603752
ENST00000603808 ENSP00000474271
ENST00000605797 ENSP00000474936
ENST00000604401
ENST00000603469
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000057606
View Gene Order
ENSBTAG00000040193
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_005677 NM_080538 NM_080539
HUGO
OMIM
CCDS CCDS33709 CCDS43057 CCDS46768
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

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