Homo sapiens Gene: COLQ

Summary
InnateDB Gene IDBG-20804.5
Last Modified 2012-02-14   [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-20808 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-20812 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-366241 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-366266 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-366269 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
IDBP-366284 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
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: 15491640-15563258
Strand Reverse strand
Band p25.1
Transcripts
ENST00000383788  ENSP00000373298
ENST00000383787  ENSP00000373297
ENST00000383786  ENSP00000373296
ENST00000383785  ENSP00000373295
ENST00000383781  ENSP00000373291
ENST00000435459  ENSP00000402511
ENST00000420589  ENSP00000394433
ENST00000454772  ENSP00000410554
ENST00000430319  ENSP00000391124
ENST00000495788 
ENST00000479387 
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
Accession GO Term
Molecular Function
GO:0005515 protein binding
GO:0008201 heparin binding
Biological Process
GO:0001507 acetylcholine catabolic process in synaptic cleft
GO:0008105 asymmetric protein localization
Cellular Component
GO:0005581 collagen
GO:0005605 basal lamina
GO:0005615 extracellular space
GO:0030054 cell junction
GO:0043083 synaptic cleft
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000057606 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000040193 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9Y215 
TrEMBL C9JBB2 F8WA67 H7BZS6
UniProt Splice Variant
Entrez Gene 8292 
UniGene Hs.146735 Hs.679681
RefSeq NM_005677  NM_080538  NM_080539 
HUGO 2226 
OMIM 603033
CCDS CCDS33709  CCDS43057  CCDS46768 
HPRD 04328
IMGT
EMBL AC027125 AC027129 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  EAW64250 
ImmGen COLQ (murine) 
RNA Seq Atlas 8292