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

Choline O-acetyltransferase

Gene

CHAT

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

Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei442Proton acceptor1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei558Coenzyme A1
Binding sitei659Coenzyme A1

<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

  • choline O-acetyltransferase activity Source: GO_Central

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

Molecular functionAcyltransferase, Transferase
Biological processNeurotransmitter biosynthesis

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.3.1.6 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1483191 Synthesis of PC
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P28329

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P28329

<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:
Choline O-acetyltransferase (EC:2.3.1.61 Publication)
Short name:
CHOACTase
Short name:
ChAT
Short name:
Choline acetylase
<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:CHAT
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000070748.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1912 CHAT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
118490 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P28329

<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; Source: COMPARTMENTS

<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, 6, presynaptic (CMS6)2 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. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive.
See also OMIM:254210
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_011666210L → P in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912820EnsemblClinVar.1
Natural variantiVAR_011667211P → A in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912815EnsemblClinVar.1
Natural variantiVAR_011668305I → T in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs75466054EnsemblClinVar.1
Natural variantiVAR_038605336I → T in CMS6. 1 PublicationCorresponds to variant dbSNP:rs121912823EnsemblClinVar.1
Natural variantiVAR_011669420R → C in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912822EnsemblClinVar.1
Natural variantiVAR_011670441E → K in CMS6; completely lack activity. 1 PublicationCorresponds to variant dbSNP:rs121912816EnsemblClinVar.1
Natural variantiVAR_011671482R → G in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912818EnsemblClinVar.1
Natural variantiVAR_011672498S → L in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912821EnsemblClinVar.1
Natural variantiVAR_011673506V → L in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912817EnsemblClinVar.1
Natural variantiVAR_011674560R → H in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912819EnsemblClinVar.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1103

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

More...
GeneReviewsi
CHAT

MalaCards human disease database

More...
MalaCardsi
CHAT
MIMi254210 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000070748

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

More...
Orphaneti
98914 Presynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26448

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4039

Drug and drug target database

More...
DrugBanki
DB00122 Choline
DB00184 Nicotine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CHAT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
281185509

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002101541 – 748Choline O-acetyltransferaseAdd BLAST748

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei125PhosphoserineBy similarity1
Modified residuei473PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

More...
PaxDbi
P28329

PeptideAtlas

More...
PeptideAtlasi
P28329

PRoteomics IDEntifications database

More...
PRIDEi
P28329

ProteomicsDB human proteome resource

More...
ProteomicsDBi
54466
54467 [P28329-2]
54468 [P28329-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P28329

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

More...
PhosphoSitePlusi
P28329

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000070748 Expressed in 30 organ(s), highest expression level in placenta

CleanEx database of gene expression profiles

More...
CleanExi
HS_CHAT

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P28329 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P28329 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB002313
HPA048547

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107528, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000337103

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P28329

<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

Secondary structure

1748
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P28329

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

More...
SMRi
P28329

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
P28329

<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

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>Regioni520 – 532Coenzyme A bindingAdd BLAST13

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3717 Eukaryota
ENOG410XNZ9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153569

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000233845

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107717

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P28329

KEGG Orthology (KO)

More...
KOi
K00623

Identification of Orthologs from Complete Genome Data

More...
OMAi
GEHSVMD

Database of Orthologous Groups

More...
OrthoDBi
EOG091G038F

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P28329

TreeFam database of animal gene trees

More...
TreeFami
TF313836

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans

The PANTHER Classification System

More...
PANTHERi
PTHR22589 PTHR22589, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00755 Carn_acyltransf, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 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 (3+)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.

This entry describes 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform M (identifier: P28329-1) [UniParc]FASTAAdd to basket
Also known as: 83 kDa

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
MGLRTAKKRG LGGGGKWKRE EGGGTRGRRE VRPACFLQSG GRGDPGDVGG
60 70 80 90 100
PAGNPGCSPH PRAATRPPPL PAHTPAHTPE WCGAASAEAA EPRRAGPHLC
110 120 130 140 150
IPAPGLTKTP ILEKVPRKMA AKTPSSEESG LPKLPVPPLQ QTLATYLQCM
160 170 180 190 200
RHLVSEEQFR KSQAIVQQFG APGGLGETLQ QKLLERQEKT ANWVSEYWLN
210 220 230 240 250
DMYLNNRLAL PVNSSPAVIF ARQHFPGTDD QLRFAASLIS GVLSYKALLD
260 270 280 290 300
SHSIPTDCAK GQLSGQPLCM KQYYGLFSSY RLPGHTQDTL VAQNSSIMPE
310 320 330 340 350
PEHVIVACCN QFFVLDVVIN FRRLSEGDLF TQLRKIVKMA SNEDERLPPI
360 370 380 390 400
GLLTSDGRSE WAEARTVLVK DSTNRDSLDM IERCICLVCL DAPGGVELSD
410 420 430 440 450
THRALQLLHG GGYSKNGANR WYDKSLQFVV GRDGTCGVVC EHSPFDGIVL
460 470 480 490 500
VQCTEHLLKH VTQSSRKLIR ADSVSELPAP RRLRWKCSPE IQGHLASSAE
510 520 530 540 550
KLQRIVKNLD FIVYKFDNYG KTFIKKQKCS PDAFIQVALQ LAFYRLHRRL
560 570 580 590 600
VPTYESASIR RFQEGRVDNI RSATPEALAF VRAVTDHKAA VPASEKLLLL
610 620 630 640 650
KDAIRAQTAY TVMAITGMAI DNHLLALREL ARAMCKELPE MFMDETYLMS
660 670 680 690 700
NRFVLSTSQV PTTTEMFCCY GPVVPNGYGA CYNPQPETIL FCISSFHSCK
710 720 730 740
ETSSSKFAKA VEESLIDMRD LCSLLPPTES KPLATKEKAT RPSQGHQP
Length:748
Mass (Da):82,536
Last modified:December 15, 2009 - v4
<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:iA902364081915391
GO
Isoform S (identifier: P28329-2) [UniParc]FASTAAdd to basket
Also known as: 74 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: MGLRTAKKRG...SAEAAEPRRA → MWPECRDEALSTV

Show »
Length:666
Mass (Da):74,361
Checksum:i3A521459434FF919
GO
Isoform R (identifier: P28329-3) [UniParc]FASTAAdd to basket
Also known as: 70 kDa

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.

Show »
Length:630
Mass (Da):70,394
Checksum:i0BF3CC8F56518326
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PP46A0A1W2PP46_HUMAN
Choline O-acetyltransferase
CHAT
369Annotation 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>
A0A1W2PRG4A0A1W2PRG4_HUMAN
Choline O-acetyltransferase
CHAT
72Annotation 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>
R4GN13R4GN13_HUMAN
Choline O-acetyltransferase
CHAT
112Annotation 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 conflicti151R → Q in CAA39923 (PubMed:1339386).Curated1
Sequence conflicti261 – 262GQ → PE in AAA14245 (PubMed:1337937).Curated2
Sequence conflicti396V → L in AAB23557 (PubMed:1388731).Curated1
Sequence conflicti434G → A in AAA14245 (PubMed:1337937).Curated1
Sequence conflicti529C → S in AAB23557 (PubMed:1388731).Curated1
Sequence conflicti567V → L in AAB23557 (PubMed:1388731).Curated1
Sequence conflicti629 – 630EL → DV in AAB23557 (PubMed:1388731).Curated2
Sequence conflicti664T → M in AAB23557 (PubMed:1388731).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04668347D → E. Corresponds to variant dbSNP:rs3810948EnsemblClinVar.1
Natural variantiVAR_011675120A → T3 PublicationsCorresponds to variant dbSNP:rs3810950EnsemblClinVar.1
Natural variantiVAR_011666210L → P in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912820EnsemblClinVar.1
Natural variantiVAR_011667211P → A in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912815EnsemblClinVar.1
Natural variantiVAR_046684222R → P. Corresponds to variant dbSNP:rs8178989EnsemblClinVar.1
Natural variantiVAR_046685243L → F. Corresponds to variant dbSNP:rs8178990EnsemblClinVar.1
Natural variantiVAR_046686299P → L. Corresponds to variant dbSNP:rs868749EnsemblClinVar.1
Natural variantiVAR_011668305I → T in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs75466054EnsemblClinVar.1
Natural variantiVAR_038605336I → T in CMS6. 1 PublicationCorresponds to variant dbSNP:rs121912823EnsemblClinVar.1
Natural variantiVAR_011676392A → G2 Publications1
Natural variantiVAR_046687400D → N. Corresponds to variant dbSNP:rs8178991EnsemblClinVar.1
Natural variantiVAR_011669420R → C in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912822EnsemblClinVar.1
Natural variantiVAR_011670441E → K in CMS6; completely lack activity. 1 PublicationCorresponds to variant dbSNP:rs121912816EnsemblClinVar.1
Natural variantiVAR_046688461V → M4 PublicationsCorresponds to variant dbSNP:rs4838544Ensembl.1
Natural variantiVAR_011671482R → G in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912818EnsemblClinVar.1
Natural variantiVAR_011672498S → L in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912821EnsemblClinVar.1
Natural variantiVAR_011673506V → L in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912817EnsemblClinVar.1
Natural variantiVAR_011674560R → H in CMS6; impaired activity. 1 PublicationCorresponds to variant dbSNP:rs121912819EnsemblClinVar.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0007911 – 118Missing in isoform R. 2 PublicationsAdd BLAST118
Alternative sequenceiVSP_0007901 – 95MGLRT…EPRRA → MWPECRDEALSTV in isoform S. 1 PublicationAdd BLAST95

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
S56138 mRNA Translation: AAA14245.1
AF305907 mRNA Translation: AAK08953.1
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA Translation: AAK08950.1
AF305908 mRNA Translation: AAK08954.1
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA Translation: AAK08951.1
AF305909 mRNA Translation: AAK08955.1
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA Translation: AAK08952.1
AC073366 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93086.1
BC130615 mRNA Translation: AAI30616.1
BC130617 mRNA Translation: AAI30618.1
S45018 mRNA Translation: AAB23557.2
X56585 Genomic DNA Translation: CAA39923.1
X56879 Genomic DNA Translation: CAA40201.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44389.1 [P28329-2]
CCDS7232.1 [P28329-1]
CCDS7233.1 [P28329-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
I52631 A60202

NCBI Reference Sequences

More...
RefSeqi
NP_001136401.1, NM_001142929.1
NP_001136405.1, NM_001142933.1
NP_001136406.1, NM_001142934.1
NP_065574.3, NM_020549.4
NP_066264.3, NM_020984.3
NP_066265.3, NM_020985.3
NP_066266.3, NM_020986.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.302002

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337653; ENSP00000337103; ENSG00000070748 [P28329-1]
ENST00000339797; ENSP00000343486; ENSG00000070748 [P28329-3]
ENST00000351556; ENSP00000345878; ENSG00000070748 [P28329-3]
ENST00000395559; ENSP00000378926; ENSG00000070748 [P28329-3]
ENST00000395562; ENSP00000378929; ENSG00000070748 [P28329-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1103

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1103

UCSC genome browser

More...
UCSCi
uc001jhv.1 human [P28329-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Choline acetyltransferase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S56138 mRNA Translation: AAA14245.1
AF305907 mRNA Translation: AAK08953.1
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA Translation: AAK08950.1
AF305908 mRNA Translation: AAK08954.1
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA Translation: AAK08951.1
AF305909 mRNA Translation: AAK08955.1
AF305906
, AF305894, AF305895, AF305896, AF305897, AF305898, AF305899, AF305900, AF305901, AF305902, AF305903, AF305904, AF305905 Genomic DNA Translation: AAK08952.1
AC073366 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93086.1
BC130615 mRNA Translation: AAI30616.1
BC130617 mRNA Translation: AAI30618.1
S45018 mRNA Translation: AAB23557.2
X56585 Genomic DNA Translation: CAA39923.1
X56879 Genomic DNA Translation: CAA40201.1
CCDSiCCDS44389.1 [P28329-2]
CCDS7232.1 [P28329-1]
CCDS7233.1 [P28329-3]
PIRiI52631 A60202
RefSeqiNP_001136401.1, NM_001142929.1
NP_001136405.1, NM_001142933.1
NP_001136406.1, NM_001142934.1
NP_065574.3, NM_020549.4
NP_066264.3, NM_020984.3
NP_066265.3, NM_020985.3
NP_066266.3, NM_020986.3
UniGeneiHs.302002

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
2FY2X-ray2.25A120-733[»]
2FY3X-ray2.27A120-733[»]
2FY4X-ray2.30A120-733[»]
2FY5X-ray2.60A120-733[»]
ProteinModelPortaliP28329
SMRiP28329
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107528, 3 interactors
STRINGi9606.ENSP00000337103

Chemistry databases

BindingDBiP28329
ChEMBLiCHEMBL4039
DrugBankiDB00122 Choline
DB00184 Nicotine

PTM databases

iPTMnetiP28329
PhosphoSitePlusiP28329

Polymorphism and mutation databases

BioMutaiCHAT
DMDMi281185509

Proteomic databases

PaxDbiP28329
PeptideAtlasiP28329
PRIDEiP28329
ProteomicsDBi54466
54467 [P28329-2]
54468 [P28329-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1103
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337653; ENSP00000337103; ENSG00000070748 [P28329-1]
ENST00000339797; ENSP00000343486; ENSG00000070748 [P28329-3]
ENST00000351556; ENSP00000345878; ENSG00000070748 [P28329-3]
ENST00000395559; ENSP00000378926; ENSG00000070748 [P28329-3]
ENST00000395562; ENSP00000378929; ENSG00000070748 [P28329-2]
GeneIDi1103
KEGGihsa:1103
UCSCiuc001jhv.1 human [P28329-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1103
DisGeNETi1103
EuPathDBiHostDB:ENSG00000070748.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CHAT
GeneReviewsiCHAT
HGNCiHGNC:1912 CHAT
HPAiCAB002313
HPA048547
MalaCardsiCHAT
MIMi118490 gene
254210 phenotype
neXtProtiNX_P28329
OpenTargetsiENSG00000070748
Orphaneti98914 Presynaptic congenital myasthenic syndromes
PharmGKBiPA26448

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3717 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00940000153569
HOGENOMiHOG000233845
HOVERGENiHBG107717
InParanoidiP28329
KOiK00623
OMAiGEHSVMD
OrthoDBiEOG091G038F
PhylomeDBiP28329
TreeFamiTF313836

Enzyme and pathway databases

BRENDAi2.3.1.6 2681
ReactomeiR-HSA-1483191 Synthesis of PC
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
SABIO-RKiP28329
SIGNORiP28329

Miscellaneous databases

EvolutionaryTraceiP28329

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Choline_acetyltransferase

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

More...
GenomeRNAii
1103

Protein Ontology

More...
PROi
PR:P28329

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000070748 Expressed in 30 organ(s), highest expression level in placenta
CleanExiHS_CHAT
ExpressionAtlasiP28329 baseline and differential
GenevisibleiP28329 HS

Family and domain databases

InterProiView protein in InterPro
IPR000542 Carn_acyl_trans
IPR039551 Cho/carn_acyl_trans
PANTHERiPTHR22589 PTHR22589, 1 hit
PfamiView protein in Pfam
PF00755 Carn_acyltransf, 1 hit
PROSITEiView protein in PROSITE
PS00439 ACYLTRANSF_C_1, 1 hit
PS00440 ACYLTRANSF_C_2, 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 nameiCLAT_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: P28329
Secondary accession number(s): A2BDF4
, A2BDF5, Q16488, Q9BQ23, Q9BQ35, Q9BQE1
<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: December 1, 1992
Last sequence update: December 15, 2009
Last modified: December 5, 2018
This is version 178 of the entry and version 4 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, Direct protein sequencing, 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again