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Sequence in raw or FASTA format:

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COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005677 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_080538 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant II, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_080539 Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant III, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol COLQ
Entrez Gene ID 8292
Full Name collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Synonyms EAD
General protein information
Preferred Names
acetylcholinesterase collagenic tail peptide
Names
acetylcholinesterase collagenic tail peptide
AChE Q subunit
acetylcholinesterase-associated collagen
collagenic tail of endplate acetylcholinesterase
single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
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, Jul 2008].
Disorder

MIM: 603033

Endplate acetylcholinesterase deficiency, 603034 (3)

mRNA Protein Product Sequence Price Select
NM_005677, 116805306 NP_005668, 18105016 acetylcholinesterase collagenic tail peptide isoform I precursor ORF Sequence $360.00
NM_080538, 116805311 NP_536799, 18105018 acetylcholinesterase collagenic tail peptide isoform II precursor ORF Sequence $550.00
NM_080539, 145701008 NP_536800, 145701009 acetylcholinesterase collagenic tail peptide isoform III precursor ORF Sequence $550.00
Homo sapiens (human)COLQNP_005668.2
Pan troglodytes (chimpanzee)COLQXP_001159864.1
Macaca mulatta (Rhesus monkey)COLQXP_001083025.2
Canis lupus familiaris (dog)COLQXP_863371.1
Bos taurus (cattle)COLQNP_001030374.2
Mus musculus (house mouse)ColqNP_034067.2
Rattus norvegicus (Norway rat)ColqNP_062147.1
Gallus gallus (chicken)COLQXP_001235720.2
Xenopus (Silurana) tropicalis (western clawed frog)colqXP_004915447.1
Process
IDNameEvidence
GO:0001507acetylcholine catabolic process in synaptic cleftTAS
GO:0008105asymmetric protein localizationTAS
Component
IDNameEvidence
GO:0005581collagen trimerIEA
GO:0005605basal laminaTAS
GO:0005615extracellular spaceTAS
GO:0030054cell junctionIEA
GO:0045202synapseIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards COLQ
UniProt Q9Y215
Vega OTTHUMG00000156233
MIM 603033
Ensembl ENSG00000206561
HGNC 2226
HPRD 04328

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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