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Entry version 171 (08 May 2019)
Sequence version 2 (17 Oct 2006)
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Protein

Acetylcholinesterase collagenic tail peptide

Gene

COLQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processNeurotransmitter degradation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Acetylcholinesterase collagenic tail peptide
Alternative name(s):
AChE Q subunit
Acetylcholinesterase-associated collagen
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COLQ
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2226 COLQ

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603033 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y215

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01013359P → Q in CMS5; abrogates binding to T subunit. 1 Publication1
Natural variantiVAR_071710337I → T in CMS5. 1 PublicationCorresponds to variant dbSNP:rs1057521153EnsemblClinVar.1
Natural variantiVAR_010134342D → E in CMS5; impairs anchoring to the basal lamina. 1 PublicationCorresponds to variant dbSNP:rs758554049Ensembl.1
Natural variantiVAR_010135410R → Q in CMS5. 1 PublicationCorresponds to variant dbSNP:rs1025361623Ensembl.1
Natural variantiVAR_010136430Y → S in CMS5. 1 PublicationCorresponds to variant dbSNP:rs121908923EnsemblClinVar.1
Natural variantiVAR_010137444C → Y in CMS5. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
8292

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
COLQ

MalaCards human disease database

More...
MalaCardsi
COLQ
MIMi603034 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000206561

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98915 Synaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26743

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COLQ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116241309

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000585423 – 455Acetylcholinesterase collagenic tail peptideAdd BLAST433

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi51Interchain (with T subunit)Sequence analysis
Disulfide bondi52Interchain (with T subunit)Sequence analysis
Disulfide bondi93InterchainSequence analysis
Disulfide bondi291InterchainSequence analysis
Disulfide bondi293InterchainSequence analysis

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Disulfide bond

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y215

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y215

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y215

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85583
85584 [Q9Y215-2]
85585 [Q9Y215-3]
85586 [Q9Y215-4]
85587 [Q9Y215-5]
85588 [Q9Y215-6]
85589 [Q9Y215-7]
85590 [Q9Y215-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y215

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y215

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Found at the end plate of skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000206561 Expressed in 124 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y215 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y215 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045876

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113897, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y215, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000373298

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1VZJX-ray2.35I/J53-67[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y215

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y215

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini96 – 269Collagen-like 1Add BLAST174
Domaini277 – 291Collagen-like 2Add BLAST15

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni51 – 67PRADAdd BLAST17
Regioni130 – 133Heparan sulfate proteoglycan bindingSequence analysis4
Regioni235 – 238Heparan sulfate proteoglycan bindingSequence analysis4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the COLQ family.Curated

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410XS2Q LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157248

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y215

Database of Orthologous Groups

More...
OrthoDBi
1156383at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y215

TreeFam database of animal gene trees

More...
TreeFami
TF331890

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011936 Myxo_disulph_rpt

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR02232 myxo_disulf_rpt, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGS2A0A0C4DGS2_HUMAN
Acetylcholinesterase collagenic tai...
COLQ
456Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R408S4R408_HUMAN
Acetylcholinesterase collagenic tai...
COLQ
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs6782980EnsemblClinVar.1
Natural variantiVAR_071710337I → T in CMS5. 1 PublicationCorresponds to variant dbSNP:rs1057521153EnsemblClinVar.1
Natural variantiVAR_010134342D → E in CMS5; impairs anchoring to the basal lamina. 1 PublicationCorresponds to variant dbSNP:rs758554049Ensembl.1
Natural variantiVAR_010135410R → Q in CMS5. 1 PublicationCorresponds to variant dbSNP:rs1025361623Ensembl.1
Natural variantiVAR_010136430Y → S in CMS5. 1 PublicationCorresponds to variant dbSNP:rs121908923EnsemblClinVar.1
Natural variantiVAR_010137444C → Y in CMS5. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33709.1 [Q9Y215-1]
CCDS43057.1 [Q9Y215-3]
CCDS46768.1 [Q9Y215-2]

NCBI Reference Sequences

More...
RefSeqi
NP_005668.2, NM_005677.3 [Q9Y215-1]
NP_536799.1, NM_080538.2 [Q9Y215-2]
NP_536800.2, NM_080539.3 [Q9Y215-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000383781; ENSP00000373291; ENSG00000206561 [Q9Y215-2]
ENST00000383786; ENSP00000373296; ENSG00000206561 [Q9Y215-3]
ENST00000383788; ENSP00000373298; ENSG00000206561 [Q9Y215-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8292

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8292

UCSC genome browser

More...
UCSCi
uc003bzv.4 human [Q9Y215-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

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

Protein-protein interaction databases

BioGridi113897, 18 interactors
IntActiQ9Y215, 2 interactors
STRINGi9606.ENSP00000373298

PTM databases

iPTMnetiQ9Y215
PhosphoSitePlusiQ9Y215

Polymorphism and mutation databases

BioMutaiCOLQ
DMDMi116241309

Proteomic databases

jPOSTiQ9Y215
PaxDbiQ9Y215
PRIDEiQ9Y215
ProteomicsDBi85583
85584 [Q9Y215-2]
85585 [Q9Y215-3]
85586 [Q9Y215-4]
85587 [Q9Y215-5]
85588 [Q9Y215-6]
85589 [Q9Y215-7]
85590 [Q9Y215-8]

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

Comparative Toxicogenomics Database

More...
CTDi
8292
DisGeNETi8292

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COLQ
GeneReviewsiCOLQ
HGNCiHGNC:2226 COLQ
HPAiHPA045876
MalaCardsiCOLQ
MIMi603033 gene
603034 phenotype
neXtProtiNX_Q9Y215
OpenTargetsiENSG00000206561
Orphaneti98915 Synaptic congenital myasthenic syndromes
PharmGKBiPA26743

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XS2Q LUCA
GeneTreeiENSGT00940000157248
InParanoidiQ9Y215
OrthoDBi1156383at2759
PhylomeDBiQ9Y215
TreeFamiTF331890

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
COLQ human
EvolutionaryTraceiQ9Y215

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
COLQ

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8292

Protein Ontology

More...
PROi
PR:Q9Y215

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000206561 Expressed in 124 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9Y215 baseline and differential
GenevisibleiQ9Y215 HS

Family and domain databases

InterProiView protein in InterPro
IPR011936 Myxo_disulph_rpt
TIGRFAMsiTIGR02232 myxo_disulf_rpt, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOLQ_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y215
Secondary accession number(s): B3KY09
, Q6DK18, Q6YH18, Q6YH19, Q6YH20, Q6YH21, Q9NP18, Q9NP19, Q9NP20, Q9NP21, Q9NP22, Q9NP23, Q9NP24, Q9UP88
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 17, 2006
Last modified: May 8, 2019
This is version 171 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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