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Aliases & Descriptions for COLQ
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EAD 1 , 2 , 5 FLJ55041 2
Descriptions AChE Q subunit 2 , 3 Acetylcholinesterase-associated collagen 2 , 3 acetylcholinesterase collagen-like tail subunit 2 collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 2 collagenic tail of endplate acetylcholinesterase 2 single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase 2
Search outside databases for aliases for COLQ genePrevious GC identifer: GC03M015420
Summaries for COLQ (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for COLQ : This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase inskeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains aproline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor thecatalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated withendplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoformshave been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215 Function : Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina
Gene Wiki entry for COLQ
Genomic Location for COLQ
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the COLQ gene Entrez Gene cytogenetic band: 3p25 Ensembl cytogenetic band: 3p24.3 HGNC cytogenetic band: 3p COLQ Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03M015466:
(about GC identifiers )
Start:
15,466,644 bp from pter
End:
15,538,262 bp from pter
Size:
71,619 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000003.10 NT_022517.17 Proteins for COLQ
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215 (See
protein sequence )Recommended Name: Acetylcholinesterase collagenic tail peptide precursor Size : 455 amino acids; 47766 Da
Subunit : Homotrimer. Component of the asymmetric form of AChE, a disulfide-bonded oligomer composedof the collagenic subunits (Q) and a variable number of asymmetric catalytic subunits (T). TheN-terminal of a collagenic subunit (Q) associates with the C-terminal of a catalytic subunit (T)
Subcellular location : Cell junction, synapse
PDB structures from and Proteopedia : 1VZJ (3D)
 
Secondary accessions : Q6DK18 Q6YH18 Q6YH19 Q6YH20 Q6YH21 Q9NP18 Q9NP19 Q9NP20 Q9NP21 Q9NP22 Q9NP23Q9NP24 Q9UP88 Alternative splicing : 8 isoforms : Q9Y215-1 Q9Y215-2 Q9Y215-3 Q9Y215-4 Q9Y215-5 Q9Y215-6 Q9Y215-7 Q9Y215-8
Post-translational modifications:
The triple-helical tail is stabilized by disulfide bonds at each end1
REFSEQ proteins (5 alternative transcripts):
NP_005668.2 NP_536799.1 NP_536800.2 NP_536802.1 NP_536805.1 ENSEMBL proteins: ENSP00000373293 ENSP00000373294 ENSP00000373292 ENSP00000373295 ENSP00000373291 ENSP00000373298 ENSP00000373297 ENSP00000373296 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for COLQ: Assays for COLQ:
Protein
Domains/ Families for COLQ(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9Y215 ProtoNet protein and cluster: Q9Y215
2 Blocks protein families : IPB008160 Collagen triple helix repeat IPB008161 Collagen helix repeat UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215 Domain : The proline-rich attachment domain (PRAD) binds the AChE catalytic subunitsSimilarity : Belongs to the COLQ familySimilarity : Contains 2 collagen-like domains
Gene Function for COLQ
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8 ): NM_080538 Applied Biosystems Silencer ® siRNAs for COLQ Sigma-Aldrich siRNA and siRNA Panels for COLQ Sigma-Aldrich shRNA Panels and shRNA for COLQ Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 5 ): NM_005677                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 5 ): NM_005677                                  untagged cDNA clones in CMV expression vector (see all 8 ): NM_005677  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005677 UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215 Function : Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina
Genatlas biochemistry entry for COLQ :collagen-like tail subunity,single strand of an homotrimer of the asymetricacetylcholinesterase,anchoring it into the basal lamina
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Colq) : Pathways & Interactions for COLQ
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for COLQ 5/12 Interacting proteins for COLQ (ENSP00000373298 3 ) via UniProtKB, MINT, and/or STRING (see all 12
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for COLQ (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for COLQ 1 Novoseek chemical compound relationship for COLQ gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
proline
37.57
3
18076380 (1), 16114264 (1)
About this table
Transcripts for COLQ(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8 ): NM_080538 Sigma-Aldrich siRNA and siRNA Panels for COLQ Sigma-Aldrich shRNA Panels and shRNA for COLQ Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005677 NM_080538 NM_080539 NM_080541 NM_080544
REFSEQ mRNAs for COLQ gene (5 alternative transcripts): NM_005677.3 NM_080538.2 NM_080539.3 NM_080541.2 NM_080544.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005677 NM_080538 NM_080539 NM_080541 NM_080544
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 5 ): NM_005677                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 5 ): NM_005677                                  untagged cDNA clones in CMV expression vector (see all 8 ): NM_005677  
Additional cDNA sequence: AF057036.1 AJ225895.1 AK128401.1 AK289688.1 AY150334.1 AY150335.1 AY150336.1 AY150337.1 AY150338.1 AY150339.1 BC074828.2 BC074829.2 BC126363.1 BC144004.1
7 DOTS entries : DT.40275712 DT.100020969 DT.101977323 DT.100020967 DT.100020968 DT.100020971 DT.91997782
24/38 AceView cDNA sequences (see all 38
):NM_005677 BC074828 AK128401 AI690739 AY150334 BC074829 BQ012516 AY150338 NM_080540 AJ225895 NM_080543 AY150336 AF057036 AI140900 AY150337 BX500613 BQ012249 AI247649 AY150335 BG236245 NM_080542 AI554171 AY150339 NM_080539
highest scoring ESTs for COLQ :AF057036 AJ225895 AY150334 AY150335 AY150336 AY150337 AY150338 AY150339 AA010938 AI140900
Unigene Cluster for COLQ: Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase Hs.146735 [show with all ESTs ] Unigene Representative Sequence: NM_080538 GeneLoc Exon Structure 8 Ensembl transcripts including schematic representations : ENST00000383783
ENST00000383784
ENST00000383782
ENST00000383785
ENST00000383781
ENST00000383788
ENST00000383787
ENST00000383786
Expression for COLQ
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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COLQ expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for COLQ 1 / 2 / 3
3 probe-sets matching COLQ gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CTGCTTCCACSOURCE GeneReport for Unigene cluster: Hs.146735 Expression variation in blood from EXPOLDB for COLQ
UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215 Tissue specificity : Found at the end plate of skeletal muscle
Orthologs for COLQ
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for COLQ gene from 5/7 species (see all 7
)
About this table Species with no ortholog for COLQ ENSEMBL Gene Tree for COLQ Paralogs for COLQ (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for COLQ (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for COLQ (up to first 250kb)
Disorders & Mutations for COLQ
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 603033 disorders : 603034 UniProtKB/Swiss-Prot: COLQ_HUMAN, Q9Y215
Defects in COLQ are the cause of congenital myasthenic syndrome Engel type (CMSE)[MIM:603034]; also known as end-plate acetylcholinesterase deficiency or congenital myasthenicsyndrome type IC (CMS-IC). CMSE is a rare autosomal recessive congenital myastehnic syndromecharacterized by onset during childhood, generalized weakness, abnormal fatigability on exertion,refrectoriness to acetylcholinesterase drugs, decremental electromyographic response andmorphological abnormalities of the neuromuscular junctions
5 Novoseek disease relationships for COLQ gene
About this table GeneTests: COLQ Congenital Myasthenic Syndromes Human Gene Mutation Database : COLQ Genetic Association Database: COLQ
Medical News for COLQ (Possibly Related Articles in
Doctor's Guide )
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Publications for COLQ (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/54 PubMed articles for COLQ gene (see all 54
): Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. (PubMed id 9689136) 1, 2, 3, 4 Ohno K.... Engel A.G. (1998) Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). (PubMed id 9758617) 1, 3, 4, 6 Donger C.... Guicheney P. (1998) The spectrum of mutations causing end-plate acetylcholinesterase deficiency. (PubMed id 10665486) 1, 3, 4 Ohno K....Akiguchi I. (2000) The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix. (PubMed id 15526038) 3, 4 Dvir H.... Silman I. (2004) An unappreciated role for RNA surveillance. (PubMed id 14759258) 3, 4 Hillman R.T.... Brenner S.E. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers. (PubMed id 16256971) 1, 3 Ting A.K....Tsim K.W. (2005) MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction. (PubMed id 15159418) 1, 3 Cartaud A....Legay C. (2004) Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. (PubMed id 18180250) 1, 3 Mihaylova V....Lochmuller H. (2008) Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. (PubMed id 11865139) 1, 3 Shapira Y.A....Engel A.G. (2002)
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Genome Databases showing COLQ
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing COLQ
(According to HUGE )
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Specialized Databases showing COLQ (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=COLQ
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-- Services for COLQ (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for COLQ:
Recombinant Proteins (COLQ ) Antibodies (COLQ )
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