COLQ

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COLQ
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOLQ, EAD, CMS5, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, collagen like tail subunit of asymmetric acetylcholinesterase
External IDsMGI: 1338761 HomoloGene: 10437 GeneCards: COLQ
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for COLQ
Genomic location for COLQ
Band3p25.1Start15,450,133 bp[1]
End15,521,751 bp[1]
RNA expression pattern
PBB GE COLQ 206073 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009937

RefSeq (protein)

NP_005668
NP_536799
NP_536800

NP_034067

Location (UCSC)Chr 3: 15.45 – 15.52 MbChr 14: 31.52 – 31.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of acetylcholinesterase found in the neuromuscular junction. In humans it is encoded by the COLQ gene.[5][6]

Function[edit]

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. Multiple transcript variants encoding different isoforms have been found for this gene.[6]

Clinical significance[edit]

Mutations in this gene are associated with endplate acetylcholinesterase deficiency.[6]

References[edit]

External links[edit]

Further reading[edit]