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

Gene ID: 8292, updated on 12-Aug-2018

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; 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; 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

Genomic context

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See COLQ in Genome Data Viewer
Location:
3p25.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (15450133..15521751, 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

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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 Jun 15 11:32:44 2016

Bibliography

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Related articles in PubMed

  1. 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
  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. Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations. Wargon I, et al. Neuromuscul Disord, 2012 Apr. PMID 22088788
  5. 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

See all (26) citations in PubMed

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel.
    Title: Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
  2. Global splicing analysis with RNA-seq revealed that exons carrying the hnRNP H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGAGG motif in both human and mouse brains.
    Title: SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
  3. study identified the molecular cause underlying congenital myasthenic syndrome in two patients in a Syrian family, a novel missense mutation, homozygous single nucleotide substitution (c.1010T>C) in the COLQ gene
    Title: Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
  4. findings suggest that the impaired attachment of COOH-terminal mutants causing EP AChE deficiency is in part independent of MuSK, and that the COOH-terminus of ColQ may interact with other proteins at the BL
    Title: COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
  5. We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ.
    Title: Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
  6. This study presented that four cases illustrate the clinical spectrum of the recurrent homozygous W148X mutation in the COLQ gene.
    Title: Recurrent COLQ mutation in congenital myasthenic syndrome.
  7. Long-term follow-up of patients with COLQ mutations showed no genotype-phenotype correlation, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.
    Title: Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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
Endplate acetylcholinesterase deficiency
MedGen: C1864233 OMIM: 603034 GeneReviews: Congenital Myasthenic Syndromes
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
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
  
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
extracellular space TAS
Traceable Author Statement
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

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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_009032.1 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

    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, OTTHUMP00000209564, ENST00000383788.9, OTTHUMT00000343575
    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/Swiss-Prot
    Q9Y215
    Related
    ENSP00000373291.3, OTTHUMP00000209566, ENST00000383781.8, OTTHUMT00000343577
    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_080539.3 → 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/Swiss-Prot
    Q9Y215
    Related
    ENSP00000373296.3, OTTHUMP00000210839, ENST00000383786.9, OTTHUMT00000346318
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    15450133..15521751 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

Gene LinkOut

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

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