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

Gene ID: 382864, updated on 5-Mar-2024

Summary

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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. 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. 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, Apr 2022]
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

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See Colq in Genome Data Viewer
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_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35907 Neighboring gene STARR-positive B cell enhancer ABC_E7303 Neighboring gene PRELI domain-containing protein 2 pseudogene Neighboring gene methyltransferase 6, methylcytidine Neighboring gene STARR-seq mESC enhancer starr_36316 Neighboring gene ELL associated factor 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32345029-32345265 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:32369012-32369287 Neighboring gene STARR-seq mESC enhancer starr_36317 Neighboring gene predicted gene, 57482 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene STARR-seq mESC enhancer starr_36319 Neighboring gene STARR-positive B cell enhancer ABC_E11568 Neighboring gene biotinidase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. McMacken GM, et al. Hum Mol Genet, 2019 Jul 15. PMID 31220253, Free PMC Article
  2. Regulation of acetylcholine release by muscarinic receptors at the mouse neuromuscular junction depends on the activity of acetylcholinesterase. Minic J, et al. Eur J Neurosci, 2002 Feb. PMID 11876771
  3. Myocyte enhancer factor 2 mediates acetylcholine-induced expression of acetylcholinesterase-associated collagen ColQ in cultured myotubes. Lau FT, et al. Mol Cell Neurosci, 2008 Nov. PMID 18718538
  4. The mammalian gene of acetylcholinesterase-associated collagen. Krejci E, et al. J Biol Chem, 1997 Sep 5. PMID 9278446
  5. Distinct localization of collagen Q and PRiMA forms of acetylcholinesterase at the neuromuscular junction. Bernard V, et al. Mol Cell Neurosci, 2011 Jan. PMID 20883790, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

General gene information

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Markers

Homology

Clone Names

  • MGC130387

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 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 ISO
Inferred from Sequence Orthology
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
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)

  1. 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

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    31245039..31299820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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

  4. 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)

  5. 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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O35348.2 GenPept UniProtKB/Swiss-Prot:O35348

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