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    COLQ collagen like tail subunit of asymmetric acetylcholinesterase [ Homo sapiens (human) ]

    Gene ID: 8292, updated on 27-Nov-2024

    Summary

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    Official Symbol
    COLQprovided by HGNC
    Official Full Name
    collagen like tail subunit of asymmetric acetylcholinesteraseprovided by HGNC
    Primary source
    HGNC:HGNC:2226
    See related
    Ensembl:ENSG00000206561 MIM:603033; AllianceGenome:HGNC:2226
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAD; CMS5
    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]
    Expression
    Broad expression in heart (RPKM 7.4), lymph node (RPKM 2.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See COLQ in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15450133..15521706, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15452540..15524108, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15491640..15563213, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19533 Neighboring gene methyltransferase 6, tRNA N3-cytidine Neighboring gene ReSE screen-validated silencer GRCh37_chr3:15469022-15469185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19534 Neighboring gene RNA, U6 small nuclear 1024, pseudogene Neighboring gene ELL associated factor 1 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene microRNA 4270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:15642981-15643623 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:15688189-15688722 Neighboring gene Sharpr-MPRA regulatory region 6531 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65637 Neighboring gene biotinidase Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. Selvam P, et al. J Clin Neuromuscul Dis, 2018 Sep. PMID 30124556
    2. COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina. Arredondo J, et al. Hum Genet, 2014 May. PMID 24281389, Free PMC Article
    3. Recurrent COLQ mutation in congenital myasthenic syndrome. Guven A, et al. Pediatr Neurol, 2012 Apr. PMID 22490774
    4. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. Matlik HN, et al. Pediatr Neurol, 2014 Jul. PMID 24938146
    5. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Wargon I, et al. Neuromuscul Disord, 2012 Apr. PMID 22088788

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
      Title: COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
    2. 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.
    3. Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
      Title: Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
    4. The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
      Title: The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
    5. Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
      Title: Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
    6. COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.
      Title: COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.
    7. The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
      Title: The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
    8. To study cholinesterase distribution in patients with COLQ gene mutation, immunohistochemical staining and indirect immunofluorescence method was used to detect cholinesterase lack of disease in patients with resectable pancreatic or lung tissue samples, confirmed cholinesterase distribution in nerve fibers surrounding the vessels. Expression of cholinesterase in mutant patients was significantly higher than wildtype.
      Title: Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency.
    9. COLQ rs7609897-T association with diverticular disease in Iceland and Denmark population.
      Title: Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.
    10. This data highlight COLQ (R410W) as a variant to initially test for in patients who have isolated limb-girdle myasthenia and are not responsive to acetylcholine receptor inhibitors, especially those from southern India.
      Title: Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Congenital myasthenic syndrome 5
    MedGen: C1864233 OMIM: 603034 GeneReviews: Congenital Myasthenic Syndromes Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: HACL1

    Homology

    Clone Names

    • FLJ55041

    Gene Ontology Provided by GOA

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acetylcholine catabolic process in synaptic cleft TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in establishment of protein localization to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of synaptic assembly at neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle acetylcholine-gated channel clustering IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basement membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in synaptic cleft 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
    collagenic tail of endplate acetylcholinesterase
    single strand of homotrimeric collagen-like tail subunit 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.

    Genomic

    1. NG_009032.2 RefSeqGene

      Range
      5046..76619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005677.4 → NP_005668.2  acetylcholinesterase collagenic tail peptide isoform I precursor

      See identical proteins and their annotated locations for NP_005668.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (I) encodes the longest protein.
      Source sequence(s)
      AF057036, AI554171, AK128401
      Consensus CDS
      CCDS33709.1
      UniProtKB/Swiss-Prot
      B3KY09, Q6DK18, Q6YH18, Q6YH19, Q6YH20, Q6YH21, Q9NP18, Q9NP19, Q9NP20, Q9NP21, Q9NP22, Q9NP23, Q9NP24, Q9UP88, Q9Y215
      UniProtKB/TrEMBL
      A8K0X3
      Related
      ENSP00000373298.3, ENST00000383788.10
      Conserved Domains (2) summary
      pfam01391
      Location:171 → 229
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:373 → 397
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat

    2. NM_080538.2 → NP_536799.1  acetylcholinesterase collagenic tail peptide isoform II precursor

      See identical proteins and their annotated locations for NP_536799.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (II) utilizes alternate exon 1A that is not present in variant I. The use of this exon results in a unique N-terminus compared to isoform I.
      Source sequence(s)
      AF057036, AI554171, AK128401
      Consensus CDS
      CCDS46768.1
      UniProtKB/TrEMBL
      A8K0X3
      Related
      ENSP00000373291.3, ENST00000383781.8
      Conserved Domains (3) summary
      pfam01391
      Location:161 → 219
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:363 → 387
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      pfam13948
      Location:365 → 390
      DUF4215; Domain of unknown function (DUF4215)

    3. NM_080539.4 → NP_536800.2  acetylcholinesterase collagenic tail peptide isoform III precursor

      See identical proteins and their annotated locations for NP_536800.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (III) is the only variant missing exon 3. Exon 3 encodes the proline-rich attachment domain; as a result, isoform III is the only isoform lacking this domain.
      Source sequence(s)
      AF057036, AI554171, AK128401, BX500613
      Consensus CDS
      CCDS43057.1
      UniProtKB/TrEMBL
      A8K0X3
      Related
      ENSP00000373296.3, ENST00000383786.9
      Conserved Domains (3) summary
      pfam01391
      Location:137 → 195
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:339 → 363
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      pfam13948
      Location:341 → 366
      DUF4215; Domain of unknown function (DUF4215)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      15450133..15521706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      15452540..15524108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080540.3: Suppressed sequence

      Description
      NM_080540.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.

    2. NM_080541.2: Suppressed sequence

      Description
      NM_080541.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    3. NM_080542.2: Suppressed sequence

      Description
      NM_080542.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    4. NM_080543.2: Suppressed sequence

      Description
      NM_080543.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    5. NM_080544.2: Suppressed sequence

      Description
      NM_080544.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y215.2 GenPept UniProtKB/Swiss-Prot:Q9Y215

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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