Colq collagen like tail subunit of asymmetric acetylcholinesterase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Colqprovided by MGI
Official Full Name: collagen like tail subunit of asymmetric acetylcholinesteraseprovided by MGI
Primary source: MGI:MGI:1338761
See related: Ensembl:ENSMUSG00000057606 AllianceGenome:MGI:1338761
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: A130034K24Rik
Summary: Predicted to enable heparin binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within establishment of protein localization to membrane; regulation of synaptic assembly at neuromuscular junction; and skeletal muscle acetylcholine-gated channel clustering. Located in neuromuscular junction. Is expressed in diaphragm. Used to study congenital myasthenic syndrome 5. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 5. Orthologous to human COLQ (collagen like tail subunit of asymmetric acetylcholinesterase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in thymus adult (RPKM 39.3), lung adult (RPKM 15.6) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 19.18 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (31245039..31299820, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (31523082..31577863, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Title: Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
This study demonstrated that ColQ controls the development and the maturation of the postsynaptic domain by regulating synaptic gene expression.
Title: Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
Data show that along the nerve terminus the vast majority of acetylcholinesterase is anchored by collagen Q that is only produced by the muscle, whereas very minor amounts of AChE are anchored by PRiMA that is produced by motoneurons.
Title: Distinct localization of collagen Q and PRiMA forms of acetylcholinesterase at the neuromuscular junction.
AChE, BChE and PRiMA mRNA level modifications found in the absence of ColQ cannot compensate for the physiological defects observed at the ColQ-deficient neuromuscular junction.
Title: Cholinesterases regulation in the absence of ColQ.
The current results reveal a signaling cascade that drives the expression profiles of ColQ in responding to activity challenge via acetylcholine and myocyte enhancer factor 2 in cultured myotubes.
Title: Myocyte enhancer factor 2 mediates acetylcholine-induced expression of acetylcholinesterase-associated collagen ColQ in cultured myotubes.
Acetylcholinesterase associates differently with its anchoring proteins ColQ and PRiMA
Title: Acetylcholinesterase associates differently with its anchoring proteins ColQ and PRiMA.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Markers

D14Mit180 (e-PCR), detects polymorphism
- UniSTS:127293

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

NoName (e-PCR)
- UniSTS:490834

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:488664

RH125187 (e-PCR)
- UniSTS:162009

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	IBA Inferred from Biological aspect of Ancestor more info
enables heparin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within establishment of protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle acetylcholine-gated channel clustering	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle acetylcholine-gated channel clustering	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: acetylcholinesterase collagenic tail peptide

Names: AChE Q subunit; acetylcholinesterase-associated collagen; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009937.3 → NP_034067.2 acetylcholinesterase collagenic tail peptide precursor

See identical proteins and their annotated locations for NP_034067.2

Status: VALIDATED

Source sequence(s)

AC109509

Consensus CDS

CCDS36856.2

UniProtKB/Swiss-Prot

O35348, Q08EK8

Related

ENSMUSP00000107658.3, ENSMUST00000112027.9

Conserved Domains (3) summary

pfam01391
Location:164 → 221

Collagen; Collagen triple helix repeat (20 copies)

TIGR02232
Location:375 → 399

myxo_disulf_rpt; Myxococcus cysteine-rich repeat

pfam13948
Location:377 → 402

DUF4215; Domain of unknown function (DUF4215)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

31245039..31299820 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006519194.1 → XP_006519257.1 acetylcholinesterase collagenic tail peptide isoform X2

See identical proteins and their annotated locations for XP_006519257.1

Conserved Domains (2) summary

pfam01391
Location:110 → 167

Collagen; Collagen triple helix repeat (20 copies)

pfam13948
Location:323 → 348

DUF4215; Domain of unknown function (DUF4215)
XM_011245105.1 → XP_011243407.1 acetylcholinesterase collagenic tail peptide isoform X2

See identical proteins and their annotated locations for XP_011243407.1

Conserved Domains (2) summary

pfam01391
Location:110 → 167

Collagen; Collagen triple helix repeat (20 copies)

pfam13948
Location:323 → 348

DUF4215; Domain of unknown function (DUF4215)
XM_006519193.5 → XP_006519256.1 acetylcholinesterase collagenic tail peptide isoform X1

UniProtKB/TrEMBL

E9PVR3

Related

ENSMUSP00000121065.2, ENSMUST00000150054.2

Conserved Domains (2) summary

pfam01391
Location:154 → 211

Collagen; Collagen triple helix repeat (20 copies)

TIGR02232
Location:365 → 389

myxo_disulf_rpt; Myxococcus cysteine-rich repeat
XM_011245106.1 → XP_011243408.1 acetylcholinesterase collagenic tail peptide isoform X2

See identical proteins and their annotated locations for XP_011243408.1

Conserved Domains (2) summary

pfam01391
Location:110 → 167

Collagen; Collagen triple helix repeat (20 copies)

pfam13948
Location:323 → 348

DUF4215; Domain of unknown function (DUF4215)
XM_006519195.5 → XP_006519258.1 acetylcholinesterase collagenic tail peptide isoform X3

Conserved Domains (1) summary

pfam01391
Location:164 → 221

Collagen; Collagen triple helix repeat (20 copies)