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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]
COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase) is a Protein Coding gene. Diseases associated with COLQ include Myasthenic Syndrome, Congenital, 5 and Congenital Myasthenic Syndrome. An important paralog of this gene is COL5A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | RCA | 25037231 |
GO:0005515 | protein binding | IPI | 15526038 |
GO:0008201 | heparin binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005581 | collagen trimer | IEA | -- |
GO:0005604 | basement membrane | TAS | 9689136 |
GO:0005615 | extracellular space | TAS,IBA | 21873635 |
GO:0005886 | plasma membrane | IDA | -- |
GO:0030054 | cell junction | IEA,IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001507 | acetylcholine catabolic process in synaptic cleft | TAS | 9689136 |
GO:0008582 | regulation of synaptic growth at neuromuscular junction | IEA | -- |
GO:0030198 | extracellular matrix organization | IBA | 21873635 |
GO:0042135 | neurotransmitter catabolic process | IEA | -- |
GO:0071340 | skeletal muscle acetylcholine-gated channel clustering | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COLQ 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COLQ 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Colq 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Colq 30 |
|
||
Cow (Bos Taurus) |
Mammalia | COLQ 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COLQ 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COLQ 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COLQ 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COLQ 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | colq 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | COLQ (2 of 2) 31 |
|
OneToMany | |
colq 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | col-118 31 |
|
ManyToMany | |
col-148 31 |
|
ManyToMany | |||
col-187 31 |
|
ManyToMany | |||
col-176 31 |
|
ManyToMany | |||
col-89 31 |
|
ManyToMany | |||
col-145 31 |
|
ManyToMany | |||
col-127 31 |
|
ManyToMany | |||
col-149 31 |
|
ManyToMany | |||
col-61 31 |
|
ManyToMany | |||
col-126 31 |
|
ManyToMany | |||
col-144 31 |
|
ManyToMany | |||
col-10 31 |
|
ManyToMany | |||
col-150 31 |
|
ManyToMany | |||
col-177 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635761 | Likely Pathogenic: Endplate acetylcholinesterase deficiency | 15,453,829(-) | C/T | MISSENSE_VARIANT | |
636303 | Likely Pathogenic: Congenital myasthenic syndrome | 15,488,248(-) | G/T | NONSENSE,INTRON_VARIANT | |
642161 | Uncertain Significance: Endplate acetylcholinesterase deficiency | 15,474,961(-) | A/T | INTRON_VARIANT | |
644732 | Uncertain Significance: Endplate acetylcholinesterase deficiency | 15,474,244(-) | C/T | MISSENSE_VARIANT | |
645303 | Uncertain Significance: Endplate acetylcholinesterase deficiency | 15,466,386(-) | A/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 5 |
|
|
congenital myasthenic syndrome |
|
|
neuromuscular junction disease |
|
|
diverticulitis |
|
|
myasthenic syndrome, congenital, 21, presynaptic |
|
|