Sequence in raw or FASTA format:
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [Homo sapiens (human)]
| Gene Symbol | COLQ |
| Entrez Gene ID | 8292 |
| Full Name | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase |
| Synonyms | EAD, FLJ55041 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
3 3p25 |
| 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]. |
| Disorder | MIM: 603033 Endplate acetylcholinesterase deficiency, 603034 (3) |
| mRNA | NM_080539, 145701008 |
| Protein | NP_536800, 145701009 |
| Product | acetylcholinesterase collagenic tail peptide isoform III precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_005677, 116805306 |
| Protein | NP_005668, 18105016 |
| Product | acetylcholinesterase collagenic tail peptide isoform I precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_080538, 116805311 |
| Protein | NP_536799, 18105018 |
| Product | acetylcholinesterase collagenic tail peptide isoform II |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | COLQ | NP_005668.2 |
| Pan troglodytes (chimpanzee) | COLQ | XP_001159719.1 |
| Canis lupus familiaris (dog) | COLQ | XP_863371.1 |
| Bos taurus (cattle) | COLQ | NP_001030374.1 |
| Mus musculus (house mouse) | Colq | NP_034067.1 |
| Rattus norvegicus (Norway rat) | Colq | NP_062147.1 |
| Gallus gallus (chicken) | COLQ | XP_001235720.1 |
| Danio rerio (zebrafish) | wu:fc38h03 | XP_001343145.3 |
| ID | Name | Evidence |
| GO:0001507 | acetylcholine catabolic process in synaptic cleft | TAS |
| GO:0008105 | asymmetric protein localization | TAS |
| GO:0042135 | neurotransmitter catabolic process | IEA |
Component
| ID | Name | Evidence |
| GO:0005581 | collagen | IEA |
| GO:0005605 | basal lamina | TAS |
| GO:0005615 | extracellular space | TAS |
| GO:0030054 | cell junction | IEA |
| GO:0045202 | synapse | IEA |
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