Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Acetylcholinesterase collagenic tail peptide

Gene

COLQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Neurotransmitter degradation

Enzyme and pathway databases

BioCyciZFISH:G66-32188-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Acetylcholinesterase collagenic tail peptide
Alternative name(s):
AChE Q subunit
Acetylcholinesterase-associated collagen
Gene namesi
Name:COLQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2226. COLQ.

Subcellular locationi

GO - Cellular componenti

  • basal lamina Source: ProtInc
  • cell junction Source: UniProtKB-KW
  • collagen trimer Source: UniProtKB-KW
  • extracellular space Source: ProtInc
  • neuromuscular junction Source: Ensembl
  • plasma membrane Source: GOC
  • synaptic cleft Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Synapse

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, 5 (CMS5)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:603034
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01013359P → Q in CMS5; abrogates binding to T subunit. 1 Publication1
Natural variantiVAR_071710337I → T in CMS5. 1 Publication1
Natural variantiVAR_010134342D → E in CMS5; impairs anchoring to the basal lamina. 1 PublicationCorresponds to variant rs758554049dbSNPEnsembl.1
Natural variantiVAR_010135410R → Q in CMS5. 1 Publication1
Natural variantiVAR_010136430Y → S in CMS5. 1 PublicationCorresponds to variant rs121908923dbSNPEnsembl.1
Natural variantiVAR_010137444C → Y in CMS5. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi8292.
MalaCardsiCOLQ.
MIMi603034. phenotype.
OpenTargetsiENSG00000206561.
Orphaneti98915. Synaptic congenital myasthenic syndromes.
PharmGKBiPA26743.

Polymorphism and mutation databases

BioMutaiCOLQ.
DMDMi116241309.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000585423 – 455Acetylcholinesterase collagenic tail peptideAdd BLAST433

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi51Interchain (with T subunit)Sequence analysis
Disulfide bondi52Interchain (with T subunit)Sequence analysis
Disulfide bondi93InterchainSequence analysis
Disulfide bondi291InterchainSequence analysis
Disulfide bondi293InterchainSequence analysis

Post-translational modificationi

The triple-helical tail is stabilized by disulfide bonds at each end.

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ9Y215.
PRIDEiQ9Y215.

PTM databases

iPTMnetiQ9Y215.
PhosphoSitePlusiQ9Y215.

Expressioni

Tissue specificityi

Found at the end plate of skeletal muscle.

Gene expression databases

BgeeiENSG00000206561.
ExpressionAtlasiQ9Y215. baseline and differential.
GenevisibleiQ9Y215. HS.

Interactioni

Subunit structurei

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).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ACHEP223032EBI-1637847,EBI-1637793

Protein-protein interaction databases

BioGridi113897. 16 interactors.
IntActiQ9Y215. 1 interactor.
STRINGi9606.ENSP00000373298.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1VZJX-ray2.35I/J53-67[»]
ProteinModelPortaliQ9Y215.
SMRiQ9Y215.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y215.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini96 – 269Collagen-like 1Add BLAST174
Domaini277 – 291Collagen-like 2Add BLAST15

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni51 – 67PRADAdd BLAST17
Regioni130 – 133Heparan sulfate proteoglycan bindingSequence analysis4
Regioni235 – 238Heparan sulfate proteoglycan bindingSequence analysis4

Domaini

The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.

Sequence similaritiesi

Belongs to the COLQ family.Curated
Contains 2 collagen-like domains.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XS2Q. LUCA.
GeneTreeiENSGT00820000127102.
HOVERGENiHBG102052.
InParanoidiQ9Y215.
PhylomeDBiQ9Y215.
TreeFamiTF331890.

Family and domain databases

InterProiIPR011936. Myxo_disulph_rpt.
[Graphical view]
TIGRFAMsiTIGR02232. myxo_disulf_rpt. 1 hit.

Sequences (8)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform I (identifier: Q9Y215-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVVLNPMTLG IYLQLFFLSI VSQPTFINSV LPISAALPSL DQKKRGGHKA
60 70 80 90 100
CCLLTPPPPP LFPPPFFRGG RSPLLSPDMK NLMLELETSQ SPCMQGSLGS
110 120 130 140 150
PGPPGPQGPP GLPGKTGPKG EKGELGRPGR KGRPGPPGVP GMPGPIGWPG
160 170 180 190 200
PEGPRGEKGD LGMMGLPGSR GPMGSKGYPG SRGEKGSRGE KGDLGPKGEK
210 220 230 240 250
GFPGFPGMLG QKGEMGPKGE PGIAGHRGPT GRPGKRGKQG QKGDSGVMGP
260 270 280 290 300
PGKPGPSGQP GRPGPPGPPP AGQLIMGPKG ERGFPGPPGR CLCGPTMNVN
310 320 330 340 350
NPSYGESVYG PSSPRVPVIF VVNNQEELER LNTQNAIAFR RDQRSLYFKD
360 370 380 390 400
SLGWLPIQLT PFYPVDYTAD QHGTCGDGLL QPGEECDDGN SDVGDDCIRC
410 420 430 440 450
HRAYCGDGHR HEGVEDCDGS DFGYLTCETY LPGSYGDLQC TQYCYIDSTP

CRYFT
Length:455
Mass (Da):47,766
Last modified:October 17, 2006 - v2
Checksum:iA95D3E5D5ECDBE55
GO
Isoform II (identifier: Q9Y215-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MVVLNPMTLGIYLQLFFLSIVSQPTFINSVLPISA → MTGSSFSLAHLLIISGLLCYSAGCL

Show »
Length:445
Mass (Da):46,457
Checksum:i8677E75D64046DE7
GO
Isoform III (identifier: Q9Y215-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-107: Missing.

Show »
Length:421
Mass (Da):44,243
Checksum:i490EE07243B21B03
GO
Isoform IV (identifier: Q9Y215-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-76: Missing.

Show »
Length:451
Mass (Da):47,356
Checksum:i82557E51EC65241E
GO
Isoform V (identifier: Q9Y215-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-132: Missing.

Show »
Length:446
Mass (Da):46,815
Checksum:iC3D9F2E1C1FFA6F4
GO
Isoform VI (identifier: Q9Y215-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     240-291: GQKGDSGVMG...RGFPGPPGRC → SSRTPCTLPR...DYISSGTERG
     292-455: Missing.

Show »
Length:291
Mass (Da):30,024
Checksum:i7DFC921C5B98D84B
GO
Isoform VII (identifier: Q9Y215-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-281: GQLIMGPKGE → DFCGQQPGGA
     282-455: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:281
Mass (Da):28,354
Checksum:iFE0A55A8FAE0E135
GO
Isoform VIII (identifier: Q9Y215-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     273-329: QLIMGPKGER...FVVNNQEELE → HMETCNAPST...VLAPSPPTFV
     330-455: Missing.

Show »
Length:329
Mass (Da):33,538
Checksum:iA3ECE29DEDE5766F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti370D → N in AAO06818 (Ref. 3) Curated1
Sequence conflicti399R → RD in CAA12648 (PubMed:9758617).Curated1
Sequence conflicti399R → RD in AAO06814 (Ref. 3) Curated1
Sequence conflicti399R → RD in AAO06816 (Ref. 3) Curated1
Sequence conflicti399R → RD in AAO06817 (Ref. 3) Curated1
Sequence conflicti399R → RD in AAO06818 (Ref. 3) Curated1
Sequence conflicti399R → RD in AAO06819 (Ref. 3) Curated1
Sequence conflicti400C → Y in AAO06816 (Ref. 3) Curated1
Sequence conflicti404Y → D in AAO06817 (Ref. 3) Curated1
Sequence conflicti423G → V in AAO06819 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01013359P → Q in CMS5; abrogates binding to T subunit. 1 Publication1
Natural variantiVAR_048809312S → G.Corresponds to variant rs6782980dbSNPEnsembl.1
Natural variantiVAR_071710337I → T in CMS5. 1 Publication1
Natural variantiVAR_010134342D → E in CMS5; impairs anchoring to the basal lamina. 1 PublicationCorresponds to variant rs758554049dbSNPEnsembl.1
Natural variantiVAR_010135410R → Q in CMS5. 1 Publication1
Natural variantiVAR_010136430Y → S in CMS5. 1 PublicationCorresponds to variant rs121908923dbSNPEnsembl.1
Natural variantiVAR_010137444C → Y in CMS5. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0011751 – 35MVVLN…LPISA → MTGSSFSLAHLLIISGLLCY SAGCL in isoform II. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_00117673 – 76Missing in isoform IV. Curated4
Alternative sequenceiVSP_00117774 – 107Missing in isoform III. CuratedAdd BLAST34
Alternative sequenceiVSP_001178124 – 132Missing in isoform V. Curated9
Alternative sequenceiVSP_001179240 – 291GQKGD…PPGRC → SSRTPCTLPRRPPVPCGQGS RSPVTVVAGNESQACLLPRF EEDYISSGTERG in isoform VI. CuratedAdd BLAST52
Alternative sequenceiVSP_001180272 – 281GQLIMGPKGE → DFCGQQPGGA in isoform VII. Curated10
Alternative sequenceiVSP_001181273 – 329QLIMG…QEELE → HMETCNAPSTATSTPRPAAT SPEGREEKVGCAPQNWQQLL HCHQTGHVLAPSPPTFV in isoform VIII. CuratedAdd BLAST57
Alternative sequenceiVSP_001182282 – 455Missing in isoform VII. CuratedAdd BLAST174
Alternative sequenceiVSP_001183292 – 455Missing in isoform VI. CuratedAdd BLAST164
Alternative sequenceiVSP_001184330 – 455Missing in isoform VIII. CuratedAdd BLAST126

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ225895 mRNA. Translation: CAA12648.1.
AF057036 mRNA. Translation: AAC39927.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43195.1.
AF229126
, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43196.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43197.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43198.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43199.1.
AF229122
, AF229117, AF229118, AF229119, AF229120, AF229121 Genomic DNA. Translation: AAF43200.1.
AF229124
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122 Genomic DNA. Translation: AAF43201.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122 Genomic DNA. Translation: AAF43202.1.
AY150334 mRNA. Translation: AAO06814.1.
AY150336 mRNA. Translation: AAO06816.1.
AY150337 mRNA. Translation: AAO06817.1.
AY150338 mRNA. Translation: AAO06818.1.
AY150339 mRNA. Translation: AAO06819.1.
AK128401 mRNA. Translation: BAG54671.1.
CH471055 Genomic DNA. Translation: EAW64250.1.
BC074828 mRNA. Translation: AAH74828.1.
BC074829 mRNA. Translation: AAH74829.1.
CCDSiCCDS33709.1. [Q9Y215-1]
CCDS43057.1. [Q9Y215-3]
CCDS46768.1. [Q9Y215-2]
RefSeqiNP_005668.2. NM_005677.3. [Q9Y215-1]
NP_536799.1. NM_080538.2. [Q9Y215-2]
NP_536800.2. NM_080539.3. [Q9Y215-3]
UniGeneiHs.146735.

Genome annotation databases

EnsembliENST00000383781; ENSP00000373291; ENSG00000206561. [Q9Y215-2]
ENST00000383786; ENSP00000373296; ENSG00000206561. [Q9Y215-3]
ENST00000383788; ENSP00000373298; ENSG00000206561. [Q9Y215-1]
GeneIDi8292.
KEGGihsa:8292.
UCSCiuc003bzv.4. human. [Q9Y215-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ225895 mRNA. Translation: CAA12648.1.
AF057036 mRNA. Translation: AAC39927.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43195.1.
AF229126
, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43196.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43197.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43198.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122, AF229123, AF229124, AF229125 Genomic DNA. Translation: AAF43199.1.
AF229122
, AF229117, AF229118, AF229119, AF229120, AF229121 Genomic DNA. Translation: AAF43200.1.
AF229124
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122 Genomic DNA. Translation: AAF43201.1.
AF229126
, AF229117, AF229118, AF229119, AF229120, AF229121, AF229122 Genomic DNA. Translation: AAF43202.1.
AY150334 mRNA. Translation: AAO06814.1.
AY150336 mRNA. Translation: AAO06816.1.
AY150337 mRNA. Translation: AAO06817.1.
AY150338 mRNA. Translation: AAO06818.1.
AY150339 mRNA. Translation: AAO06819.1.
AK128401 mRNA. Translation: BAG54671.1.
CH471055 Genomic DNA. Translation: EAW64250.1.
BC074828 mRNA. Translation: AAH74828.1.
BC074829 mRNA. Translation: AAH74829.1.
CCDSiCCDS33709.1. [Q9Y215-1]
CCDS43057.1. [Q9Y215-3]
CCDS46768.1. [Q9Y215-2]
RefSeqiNP_005668.2. NM_005677.3. [Q9Y215-1]
NP_536799.1. NM_080538.2. [Q9Y215-2]
NP_536800.2. NM_080539.3. [Q9Y215-3]
UniGeneiHs.146735.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1VZJX-ray2.35I/J53-67[»]
ProteinModelPortaliQ9Y215.
SMRiQ9Y215.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113897. 16 interactors.
IntActiQ9Y215. 1 interactor.
STRINGi9606.ENSP00000373298.

PTM databases

iPTMnetiQ9Y215.
PhosphoSitePlusiQ9Y215.

Polymorphism and mutation databases

BioMutaiCOLQ.
DMDMi116241309.

Proteomic databases

PaxDbiQ9Y215.
PRIDEiQ9Y215.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000383781; ENSP00000373291; ENSG00000206561. [Q9Y215-2]
ENST00000383786; ENSP00000373296; ENSG00000206561. [Q9Y215-3]
ENST00000383788; ENSP00000373298; ENSG00000206561. [Q9Y215-1]
GeneIDi8292.
KEGGihsa:8292.
UCSCiuc003bzv.4. human. [Q9Y215-1]

Organism-specific databases

CTDi8292.
DisGeNETi8292.
GeneCardsiCOLQ.
GeneReviewsiCOLQ.
HGNCiHGNC:2226. COLQ.
MalaCardsiCOLQ.
MIMi603033. gene.
603034. phenotype.
neXtProtiNX_Q9Y215.
OpenTargetsiENSG00000206561.
Orphaneti98915. Synaptic congenital myasthenic syndromes.
PharmGKBiPA26743.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XS2Q. LUCA.
GeneTreeiENSGT00820000127102.
HOVERGENiHBG102052.
InParanoidiQ9Y215.
PhylomeDBiQ9Y215.
TreeFamiTF331890.

Enzyme and pathway databases

BioCyciZFISH:G66-32188-MONOMER.

Miscellaneous databases

ChiTaRSiCOLQ. human.
EvolutionaryTraceiQ9Y215.
GeneWikiiCOLQ.
GenomeRNAii8292.
PROiQ9Y215.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000206561.
ExpressionAtlasiQ9Y215. baseline and differential.
GenevisibleiQ9Y215. HS.

Family and domain databases

InterProiIPR011936. Myxo_disulph_rpt.
[Graphical view]
TIGRFAMsiTIGR02232. myxo_disulf_rpt. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCOLQ_HUMAN
AccessioniPrimary (citable) accession number: Q9Y215
Secondary accession number(s): B3KY09
, Q6DK18, Q6YH18, Q6YH19, Q6YH20, Q6YH21, Q9NP18, Q9NP19, Q9NP20, Q9NP21, Q9NP22, Q9NP23, Q9NP24, Q9UP88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.