U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 8292, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools