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    COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase [ Homo sapiens ]

    Gene ID: 8292, updated on 11-May-2012
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    Summary

    Official Symbol
    COLQprovided by HGNC
    Official Full Name
    collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesteraseprovided by HGNC
    Primary source
    HGNC:2226
    See related
    Ensembl:ENSG00000206561; HPRD:04328; MIM:603033; Vega:OTTHUMG00000156233
    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; FLJ55041
    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]
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    Genomic context

    Location :
    3p25
    Sequence :
    Chromosome: 3; NC_000003.11 (15491640..15563258, complement)
    See COLQ in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene methyltransferase like 6 Neighboring gene ELL associated factor 1 Neighboring gene microRNA 4270 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene biotinidase Neighboring gene uncharacterized LOC100505737

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A data set of human endogenous protein ubiquitination sites. Shi Y, et al. Mol Cell Proteomics, 2011 May. PMID 20972266.
    2. Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations. Yeung WL, et al. Dev Med Child Neurol, 2010 Oct. PMID 20370815.
    3. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Mihaylova V, et al. Brain, 2008 Mar. PMID 18180250.
    4. Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. Schreiner F, et al. Neuromuscul Disord, 2007 Mar. PMID 17300939.
    5. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers. Ting AK, et al. Chem Biol Interact, 2005 Dec 15. PMID 16256971.

    See all (17) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. two siblings have identical novel heterozygous mutations but different phenotypic expressions.
      Title: Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
    2. Twenty different mutations of the COLQ gene have been identified in our patients: The mutations are missense (6), splice-site (3), in-frame deletion (1), non-sense (4) and frameshift (6). The majority of the mutations are protein truncating.
      Title: Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
    3. Both patients presented a novel splicing mutation (IVS1-1G-->A) affecting the exon encoding the proline-rich attachment domain (PRAD), which interacts with acetylcholinesterase.
      Title: Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
    4. we found familial occurrence of congenital ptosis in heterozygous carriers of 950delC.
      Title: Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
    5. Three novel colq protein mutations in eight kinships.
      Title: Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
    6. muscle fiber type-specific expression pattern of ColQ transcripts was regulated by a slow upsteam regulatory element (SURE) and a fast intronic regulatory element (FIRE)
      Title: Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
    Submit: New GeneRIF Correction
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Endplate acetylcholinesterase deficiency

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9Y215 P22303 ACHE    HPRD  PubMed  
    Q9Y215 P06276 BCHE    HPRD  PubMed  
    Q9Y215 O15146 MUSK    HPRD  PubMed  
    BioGRID:113897 BioGRID:107064 BCHE    BioGRID  PubMed Co-purification 
    BioGRID:113897 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Potential readthrough

    Included gene: HACL1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acetylcholine catabolic process in synaptic cleft TAS
    Traceable Author Statement
    more info
    		 PubMed 
    asymmetric protein localization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    neurotransmitter catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    basal lamina TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular space TAS
    Traceable Author Statement
    more info
    		 PubMed 
    synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic cleft TAS
    Traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    acetylcholinesterase collagenic tail peptide
    Names
    acetylcholinesterase collagenic tail peptide
    AChE Q subunit
    acetylcholinesterase-associated collagen
    collagenic tail of endplate acetylcholinesterase
    single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
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    NCBI Reference Sequences (RefSeq)

    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_009032.1 RefSeqGene

      Range
      5001..76619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005677.3 → NP_005668.2  acetylcholinesterase collagenic tail peptide isoform I precursor

      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
      Q9Y215
      Related
      ENSP00000373298, OTTHUMP00000209564, ENST00000383788, OTTHUMT00000343575
      Conserved Domains (2) summary
      pfam01391
      Location:162 – 224
      Blast Score: 91
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:373 – 397
      Blast Score: 98
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat

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

      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/Swiss-Prot
      Q9Y215
      Related
      ENSP00000373291, ENST00000383781
      Conserved Domains (2) summary
      pfam01391
      Location:152 – 214
      Blast Score: 90
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:363 – 387
      Blast Score: 94
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat

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

      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/Swiss-Prot
      Q9Y215
      Related
      ENSP00000373296, OTTHUMP00000210839, ENST00000383786, OTTHUMT00000346318
      Conserved Domains (2) summary
      pfam01391
      Location:128 – 190
      Blast Score: 92
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:339 – 363
      Blast Score: 97
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      15491640..15563258, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      15426974..15498632, 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.
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC027125.5 (4..42899) None
    genomic AC027129.6 (125353..154075) None
    genomic AF229118.1 AAF43196.1
    genomic AF229122.1 AAF43200.1
    genomic AF229124.1 AAF43195.1
      AAF43197.1
      AAF43198.1
      AAF43199.1
      AAF43201.1
    genomic AF229126.1 AAF43202.1
    genomic CH471055.1 EAW64235.1
      EAW64236.1
      EAW64237.1
      EAW64238.1
      EAW64239.1
      EAW64240.1
      EAW64241.1
      EAW64242.1
      EAW64243.1
      EAW64244.1
      EAW64245.1
      EAW64246.1
      EAW64247.1
      EAW64248.1
      EAW64249.1
      EAW64250.1
    mRNA AF057036.1 AAC39927.1
    mRNA AI246303.1 None
    mRNA AI554171.1 None
    mRNA AJ225895.1 CAA12648.1
    mRNA AK128401.1 BAG54671.1
    mRNA AK289688.1 BAF82377.1
    mRNA AY150334.1 AAO06814.1
    mRNA AY150335.1 AAO06815.1
    mRNA AY150336.1 AAO06816.1
    mRNA AY150337.1 AAO06817.1
    mRNA AY150338.1 AAO06818.1
    mRNA AY150339.1 AAO06819.1
    mRNA BC074828.2 AAH74828.1
    mRNA BC074829.2 AAH74829.1
    mRNA BC126363.1 None
    mRNA BC144004.1 None
    mRNA BX500613.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y215.2 GenPept UniProtKB/Swiss-Prot:Q9Y215
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    Additional Links

    Additional Links

    Gene LinkOut

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

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