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

Gene ID: 8292, updated on 10-Dec-2024

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; 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
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Genomic context

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

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: HACL1

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 
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

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_009032.2 RefSeqGene

    Range
    5046..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
    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: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/TrEMBL
    A8K0X3
    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/TrEMBL
    A8K0X3
    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: 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.