Sequence in raw or FASTA format:
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [Homo sapiens (human)]
|Entrez Gene ID||8292|
|Full Name||collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Endplate acetylcholinesterase deficiency, 603034 (3)
|Homo sapiens (human)||COLQ||NP_005668.2|
|Pan troglodytes (chimpanzee)||COLQ||XP_001159864.1|
|Macaca mulatta (Rhesus monkey)||COLQ||XP_001083025.2|
|Canis lupus familiaris (dog)||COLQ||XP_863371.1|
|Bos taurus (cattle)||COLQ||NP_001030374.2|
|Mus musculus (house mouse)||Colq||NP_034067.2|
|Rattus norvegicus (Norway rat)||Colq||NP_062147.1|
|Gallus gallus (chicken)||COLQ||XP_001235720.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||colq||XP_004915447.1|
|GO:0001507||acetylcholine catabolic process in synaptic cleft||TAS|
|GO:0008105||asymmetric protein localization||TAS|
What is the normal function of the COLQ gene?
The COLQ gene provides instructions for making a protein that plays an important role in the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement.
The ColQ protein anchors another protein called acetylcholinesterase to the muscle cell membrane at the neuromuscular junction. The ColQ protein is made up of three identical parts (subunits). Each subunit attaches (binds) to a bundle of four acetylcholinesterase proteins. Acetylcholinesterase plays a role in regulating the length of signaling between nerve cells and muscle cells by breaking down the signaling protein acetylcholine.
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