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

Gene ID: 8292, updated on 21-Nov-2014
Official Symbol
COLQprovided by HGNC
Official Full Name
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesteraseprovided by HGNC
Primary source
HGNC: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
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]
See COLQ in Epigenomics, MapViewer
Location:
3p25
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 ELL associated factor 1 Neighboring gene microRNA 4270 Neighboring gene 2-hydroxyacyl-CoA lyase 1 Neighboring gene biotinidase Neighboring gene ankyrin repeat domain 28 Neighboring gene microRNA 3134

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: HACL1

Homology

Clone Names

  • FLJ55041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
Component Evidence Code Pubs
basal lamina TAS
Traceable Author Statement
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 
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

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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, OTTHUMP00000209564, ENST00000383788, OTTHUMT00000343575
    Conserved Domains (3) summary
    pfam01391
    Location:171229
    Collagen; Collagen triple helix repeat (20 copies)
    TIGR02232
    Location:373397
    myxo_disulf_rpt; Myxococcus cysteine-rich repeat
    pfam13948
    Location:375397
    DUF4215; Domain of unknown function (DUF4215)
  2. NM_080538.2NP_536799.1  acetylcholinesterase collagenic tail peptide isoform II precursor

    See proteins identical to 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, OTTHUMP00000209566, ENST00000383781, OTTHUMT00000343577
    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:365387
    DUF4215; Domain of unknown function (DUF4215)
  3. NM_080539.3NP_536800.2  acetylcholinesterase collagenic tail peptide isoform III precursor

    See proteins identical to 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
    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:341363
    DUF4215; Domain of unknown function (DUF4215)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    15426974..15498632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    15450133..15521751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    15442518..15514124
    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.