COLQ

GENE INFORMATION

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Gene name

COLQ (HGNC Symbol)

Synonyms

EAD

Description

Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (HGNC Symbol)

Entrez gene 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]

Chromosome

3

Cytoband

p25.1

Chromosome location (bp)

15450133 - 15521751

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000206561 (version 78.38)

Entrez gene

8292

UniProt

Q9Y215 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y215

Antibodypedia

COLQ antibodies
 

PROTEIN VIEW

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COLQ-001
 
COLQ-002
 
COLQ-003
 
COLQ-004
 
COLQ-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COLQ-001 ENSP00000373298
ENST00000383788
Q9Y215
Show all »
Show » Show » 455 47.8 Yes 0
COLQ-002 ENSP00000474271
ENST00000603808
Q9Y215
Show all »
Show » Show » 456 47.9 Yes 0
COLQ-003 ENSP00000373291
ENST00000383781
Q9Y215
Show all »
Show » Show » 445 46.5 Yes 0
COLQ-004 ENSP00000474936
ENST00000605797
S4R408
Show all »
Show » 194 19.4 No 0
COLQ-007 ENSP00000373296
ENST00000383786
Q9Y215
Show all »
Show » Show » 421 44.2 Yes 0