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Aliases for COLQ Gene

Aliases for COLQ Gene

  • Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric Acetylcholinesterase 2 3 5
  • Acetylcholinesterase-Associated Collagen 2 3 4
  • AChE Q Subunit 2 3 4
  • Single Strand Of Homotrimeric Collagen-Like Tail Subunit Of Asymmetric Acetylcholinesterase 2 3
  • Collagenic Tail Of Endplate Acetylcholinesterase 2 3
  • CMS5 3
  • EAD 3

External Ids for COLQ Gene

Previous GeneCards Identifiers for COLQ Gene

  • GC03M015420
  • GC03M015466
  • GC03M015491
  • GC03M015426

Summaries for COLQ Gene

Entrez Gene Summary for COLQ 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]

GeneCards Summary for COLQ Gene

COLQ (Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric Acetylcholinesterase) is a Protein Coding gene. Diseases associated with COLQ include myasthenic syndrome, congenital, 5 and synaptic congenital myasthenic syndromes.

UniProtKB/Swiss-Prot for COLQ Gene

  • Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.

Gene Wiki entry for COLQ Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COLQ Gene

Genomics for COLQ Gene

Regulatory Elements for COLQ Gene

Enhancers for COLQ Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COLQ on UCSC Golden Path with GeneCards custom track

Promoters for COLQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COLQ on UCSC Golden Path with GeneCards custom track

Genomic Location for COLQ Gene

Chromosome:
3
Start:
15,450,133 bp from pter
End:
15,521,751 bp from pter
Size:
71,619 bases
Orientation:
Minus strand

Genomic View for COLQ Gene

Genes around COLQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COLQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COLQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COLQ Gene

Proteins for COLQ Gene

  • Protein details for COLQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y215-COLQ_HUMAN
    Recommended name:
    Acetylcholinesterase collagenic tail peptide
    Protein Accession:
    Q9Y215
    Secondary Accessions:
    • B3KY09
    • Q6DK18
    • Q6YH18
    • Q6YH19
    • Q6YH20
    • Q6YH21
    • Q9NP18
    • Q9NP19
    • Q9NP20
    • Q9NP21
    • Q9NP22
    • Q9NP23
    • Q9NP24
    • Q9UP88

    Protein attributes for COLQ Gene

    Size:
    455 amino acids
    Molecular mass:
    47766 Da
    Quaternary structure:
    • Homotrimer. Component of the asymmetric form of AChE, a disulfide-bonded oligomer composed of the collagenic subunits (Q) and a variable number of asymmetric catalytic subunits (T). The N-terminal of a collagenic subunit (Q) associates with the C-terminal of a catalytic subunit (T).

    Three dimensional structures from OCA and Proteopedia for COLQ Gene

    Alternative splice isoforms for COLQ Gene

neXtProt entry for COLQ Gene

Proteomics data for COLQ Gene at MOPED

Post-translational modifications for COLQ Gene

  • The triple-helical tail is stabilized by disulfide bonds at each end.
  • Ubiquitination at Lys 191
  • Modification sites at PhosphoSitePlus

Other Protein References for COLQ Gene

No data available for DME Specific Peptides for COLQ Gene

Domains & Families for COLQ Gene

Protein Domains for COLQ Gene

Suggested Antigen Peptide Sequences for COLQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y215

UniProtKB/Swiss-Prot:

COLQ_HUMAN :
  • The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.
  • Belongs to the COLQ family.
Domain:
  • The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.
  • Contains 2 collagen-like domains.
Family:
  • Belongs to the COLQ family.
genes like me logo Genes that share domains with COLQ: view

No data available for Gene Families for COLQ Gene

Function for COLQ Gene

Molecular function for COLQ Gene

GENATLAS Biochemistry:
collagen-like tail subunity,single strand of an homotrimer of the asymetric acetylcholinesterase,anchoring it into the basal lamina
UniProtKB/Swiss-Prot Function:
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
genes like me logo Genes that share phenotypes with COLQ: view

Human Phenotype Ontology for COLQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COLQ Gene

miRTarBase miRNAs that target COLQ

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COLQ Gene

Localization for COLQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for COLQ Gene

Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COLQ Gene COMPARTMENTS Subcellular localization image for COLQ gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
plasma membrane 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005605 basal lamina TAS 9689136
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with COLQ: view

Pathways & Interactions for COLQ Gene

SuperPathways for COLQ Gene

No Data Available

Gene Ontology (GO) - Biological Process for COLQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090150 establishment of protein localization to membrane IEA --
genes like me logo Genes that share ontologies with COLQ: view

No data available for Pathways by source and SIGNOR curated interactions for COLQ Gene

Drugs & Compounds for COLQ Gene

(2) Drugs for COLQ Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with COLQ: view

Transcripts for COLQ Gene

Unigene Clusters for COLQ Gene

Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COLQ Gene

No ASD Table

Relevant External Links for COLQ Gene

GeneLoc Exon Structure for
COLQ
ECgene alternative splicing isoforms for
COLQ

Expression for COLQ Gene

mRNA expression in normal human tissues for COLQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COLQ Gene

This gene is overexpressed in Pancreas (60.6) and Adipocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COLQ Gene



SOURCE GeneReport for Unigene cluster for COLQ Gene Hs.146735

mRNA Expression by UniProt/SwissProt for COLQ Gene

Q9Y215-COLQ_HUMAN
Tissue specificity: Found at the end plate of skeletal muscle.
genes like me logo Genes that share expression patterns with COLQ: view

Protein tissue co-expression partners for COLQ Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for COLQ Gene

Orthologs for COLQ Gene

This gene was present in the common ancestor of animals.

Orthologs for COLQ Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COLQ 35
  • 86.75 (n)
  • 88.52 (a)
COLQ 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COLQ 35
  • 89.75 (n)
  • 88.05 (a)
mouse
(Mus musculus)
Mammalia Colq 35
  • 89.13 (n)
  • 91.19 (a)
Colq 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COLQ 35
  • 99.34 (n)
  • 99.12 (a)
COLQ 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Colq 35
  • 86.83 (n)
  • 88.08 (a)
oppossum
(Monodelphis domestica)
Mammalia COLQ 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COLQ 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves COLQ 35
  • 70.48 (n)
  • 69.23 (a)
COLQ 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COLQ 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia colq 35
  • 65.35 (n)
  • 65.03 (a)
zebrafish
(Danio rerio)
Actinopterygii colq 36
  • 55 (a)
OneToMany
COLQ (2 of 2) 36
  • 55 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea col-10 36
  • 23 (a)
ManyToMany
col-118 36
  • 26 (a)
ManyToMany
col-126 36
  • 24 (a)
ManyToMany
col-127 36
  • 24 (a)
ManyToMany
col-144 36
  • 23 (a)
ManyToMany
col-145 36
  • 24 (a)
ManyToMany
col-148 36
  • 25 (a)
ManyToMany
col-149 36
  • 24 (a)
ManyToMany
col-150 36
  • 22 (a)
ManyToMany
col-176 36
  • 25 (a)
ManyToMany
col-177 36
  • 19 (a)
ManyToMany
col-187 36
  • 25 (a)
ManyToMany
col-61 36
  • 24 (a)
ManyToMany
col-89 36
  • 25 (a)
ManyToMany
Species with no ortholog for COLQ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COLQ Gene

ENSEMBL:
Gene Tree for COLQ (if available)
TreeFam:
Gene Tree for COLQ (if available)

Paralogs for COLQ Gene

(6) SIMAP similar genes for COLQ Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COLQ: view

No data available for Paralogs for COLQ Gene

Variants for COLQ Gene

Sequence variations from dbSNP and Humsavar for COLQ Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_010133 Myasthenic syndrome, congenital, 5 (CMS5)
VAR_010134 Myasthenic syndrome, congenital, 5 (CMS5)
VAR_010135 Myasthenic syndrome, congenital, 5 (CMS5)
VAR_010136 Myasthenic syndrome, congenital, 5 (CMS5)
VAR_010137 Myasthenic syndrome, congenital, 5 (CMS5)

Structural Variations from Database of Genomic Variants (DGV) for COLQ Gene

Variant ID Type Subtype PubMed ID
nsv834621 CNV Gain 17160897
nsv834622 CNV Gain 17160897
nsv876582 CNV Gain 21882294
nsv822003 CNV Gain 20364138
esv275345 CNV Gain+Loss 21479260

Variation tolerance for COLQ Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COLQ Gene

HapMap Linkage Disequilibrium report
COLQ
Human Gene Mutation Database (HGMD)
COLQ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COLQ Gene

Disorders for COLQ Gene

MalaCards: The human disease database

(7) MalaCards diseases for COLQ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 5
  • endplate acetylcholinesterase deficiency
synaptic congenital myasthenic syndromes
colq-related congenital myasthenic syndrome
familial hodgkin disease
  • familial hodgkin lymphoma
congenital myasthenic syndrome
  • familial infantile myasthenia 1
- elite association - COSMIC cancer census association via MalaCards
Search COLQ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COLQ_HUMAN
  • Myasthenic syndrome, congenital, 5 (CMS5) [MIM:603034]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive. {ECO:0000269 PubMed:10665486, ECO:0000269 PubMed:11865139, ECO:0000269 PubMed:24938146, ECO:0000269 PubMed:9758617}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COLQ

Genetic Association Database (GAD)
COLQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COLQ
genes like me logo Genes that share disorders with COLQ: view

No data available for Genatlas for COLQ Gene

Publications for COLQ Gene

  1. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. (PMID: 9689136) Ohno K. … Engel A.G. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23 67
  2. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (PMID: 18180250) Mihaylova V. … LochmA1ller H. (Brain 2008) 3 23
  3. Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives. (PMID: 17300939) Schreiner F. … Woelfle J. (Neuromuscul. Disord. 2007) 3 23
  4. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers. (PMID: 16256971) Ting A.K. … Tsim K.W. (Chem. Biol. Interact. 2005) 3 23
  5. MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. (PMID: 15159418) Cartaud A. … Legay C. (J. Cell Biol. 2004) 3 23

Products for COLQ Gene

Sources for COLQ Gene

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