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

    Gene ID: 382864, updated on 27-Nov-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 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, Nov 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

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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. Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ. Barbeau S, et al. Int J Mol Sci, 2023 Nov 11. PMID 38003406, Free PMC Article
    4. The mammalian gene of acetylcholinesterase-associated collagen. Krejci E, et al. J Biol Chem, 1997 Sep 5. PMID 9278446
    5. 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

    See all (29) 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.
    Submit: New GeneRIF Correction

    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

    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 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)

    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

    Gene LinkOut

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