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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

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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
Congenital myasthenic syndrome 5 MedGen: C1864233 OMIM: 603034 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482054

NoName (e-PCR)
- UniSTS:481319

COLQ (e-PCR)
- UniSTS:479816

NoName (e-PCR)
- UniSTS:486357

WI-17996 (e-PCR)
- UniSTS:31462

PMC311069P6 (e-PCR)
- UniSTS:272887

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 more info	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

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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

NG_009032.2 RefSeqGene

Range

5046..76619

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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)
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

15450133..15521706 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

15452540..15524108 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.
NM_080542.2: Suppressed sequence

Description

NM_080542.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_080543.2: Suppressed sequence

Description

NM_080543.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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.