COLQ

Protein identityUniProt · HPA

UniProt accession

Q9Y215

Gene

COLQ

Ensembl

ENSG00000206561

Chromosome

3

Canonical length

455 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Subcellular location

Plasma membrane,Cell Junctions

Secretome location

Secreted to blood

Quaternary structure

Homotrimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

455 residues, UniProt reviewed canonical sequence.

>Q9Y215|COLQ
     1  MVVLNPMTLG IYLQLFFLSI VSQPTFINSV LPISAALPSL DQKKRGGHKA CCLLTPPPPP
    61  LFPPPFFRGG RSPLLSPDMK NLMLELETSQ SPCMQGSLGS PGPPGPQGPP GLPGKTGPKG
   121  EKGELGRPGR KGRPGPPGVP GMPGPIGWPG PEGPRGEKGD LGMMGLPGSR GPMGSKGYPG
   181  SRGEKGSRGE KGDLGPKGEK GFPGFPGMLG QKGEMGPKGE PGIAGHRGPT GRPGKRGKQG
   241  QKGDSGVMGP PGKPGPSGQP GRPGPPGPPP AGQLIMGPKG ERGFPGPPGR CLCGPTMNVN
   301  NPSYGESVYG PSSPRVPVIF VVNNQEELER LNTQNAIAFR RDQRSLYFKD SLGWLPIQLT
   361  PFYPVDYTAD QHGTCGDGLL QPGEECDDGN SDVGDDCIRC HRAYCGDGHR HEGVEDCDGS
   421  DFGYLTCETY LPGSYGDLQC TQYCYIDSTP CRYFT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COLQ can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

17 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COLQ.

Disease | AllUniProt

Conditions COLQ is implicated in, by any mechanism.

• Myasthenic syndrome, congenital, 5 (CMS5) MIM:603034

Disease | GeneticClinVar

120 pathogenic / likely-pathogenic of 664 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital myasthenic syndrome 5
• Congenital myasthenic syndrome
• Abnormality of the musculature
• Synaptic congenital myasthenic syndromes
• Slow-Channel Congenital Myasthenia Syndrome

ReferencesPubMed · IEDB

Publications for COLQ from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.1

gnomAD pLI

0

gnomAD missense Z

-0.22

DepMap mean gene effect

0.13

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• acetylcholine catabolic process in synaptic cleft
• establishment of protein localization to membrane
• negative regulation of synaptic transmission, cholinergic
• protein localization to synapse
• regulation of synaptic assembly at neuromuscular junction
• skeletal muscle acetylcholine-gated channel clustering

Molecular functions

• heparin binding
• molecular adaptor activity

Cellular components

• basement membrane
• cell junction
• collagen trimer
• extracellular matrix
• extracellular space
• neuromuscular junction
• plasma membrane
• synaptic cleft

Protein domainsUniProt · Pfam · InterPro

• Collagen triple helix repeat
• Myxococcus cysteine-rich repeat
• Collagen superfamily
• Collagen triple helix repeat (20 copies)

KeywordsUniProt

• Collagen
• Congenital myasthenic syndrome
• Disulfide bond
• Neurotransmitter degradation
• Repeat
• Signal
• Synapse

InteractionsUniProt · HPA

Protein binding partners of COLQ in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSPG2
• MUSK