COLQ

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]

Description

Collagen like tail subunit of asymmetric acetylcholinesterase

Tissue specificity

Tissue enhanced (heart muscle)

Subcell location

Plasma membrane, Cell Junctions

Predicted location

Intracellular, Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins

Chromosome

3 (15450133 - 15521751)

Ensembl ID

ENSG00000206561  (ver. 103.38)

Orthologs

Mouse Colq: ENSMUSG00000057606

UniProt

Q9Y215

neXtProt

NX_Q9Y215

Human splice variants
Mouse splice variants

Protein structure