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

    Gene ID: 8292, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See COLQ in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (15450133..15521706, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15491640..15563277, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene methyltransferase like 6 Neighboring gene RNA, U6 small nuclear 1024, pseudogene Neighboring gene ELL associated factor 1 Neighboring gene uncharacterized LOC105376964 Neighboring gene RNA, 7SL, cytoplasmic 110, pseudogene Neighboring gene microRNA 4270 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene biotinidase Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: HACL1

    Homology

    Clone Names

    • FLJ55041

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    establishment of protein localization to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of synaptic growth at neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle acetylcholine-gated channel clustering IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    cell junction IDA
    Inferred from Direct Assay
    more info
     
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    collagen-containing extracellular matrix HDA PubMed 
    extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    synaptic cleft IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

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

    mRNA and Protein(s)

    1. NM_005677.4NP_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
      Q9Y215
      Related
      ENSP00000373298.3, ENST00000383788.10
      Conserved Domains (2) summary
      pfam01391
      Location:171229
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:373397
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
    2. NM_080538.2NP_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/Swiss-Prot
      Q9Y215
      Related
      ENSP00000373291.3, ENST00000383781.8
      Conserved Domains (3) summary
      pfam01391
      Location:161219
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:363387
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      pfam13948
      Location:365390
      DUF4215; Domain of unknown function (DUF4215)
    3. NM_080539.4NP_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/Swiss-Prot
      Q9Y215
      Related
      ENSP00000373296.3, ENST00000383786.9
      Conserved Domains (3) summary
      pfam01391
      Location:137195
      Collagen; Collagen triple helix repeat (20 copies)
      TIGR02232
      Location:339363
      myxo_disulf_rpt; Myxococcus cysteine-rich repeat
      pfam13948
      Location:341366
      DUF4215; Domain of unknown function (DUF4215)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      15450133..15521706 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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