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Protein

Choline O-acetyltransferase

Gene

CHAT

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

Functioni

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

Catalytic activityi

Acetyl-CoA + choline = CoA + O-acetylcholine.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei442Proton acceptor1
Binding sitei558Coenzyme A1
Binding sitei659Coenzyme A1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processNeurotransmitter biosynthesis

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

Names & Taxonomyi

Protein namesi
Recommended name:
Choline O-acetyltransferase (EC:2.3.1.61 Publication)
Short name:
CHOACTase
Short name:
ChAT
Short name:
Choline acetylase
Gene namesi
Name:CHAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000070748.17
HGNCiHGNC:1912 CHAT
MIMi118490 gene
neXtProtiNX_P28329

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

Pathology & Biotechi

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
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

DisGeNETi1103
GeneReviewsiCHAT
MalaCardsiCHAT
MIMi254210 phenotype
OpenTargetsiENSG00000070748
Orphaneti98914 Presynaptic congenital myasthenic syndromes
PharmGKBiPA26448

Chemistry databases

ChEMBLiCHEMBL4039
DrugBankiDB00122 Choline
DB00184 Nicotine

Polymorphism and mutation databases

BioMutaiCHAT
DMDMi281185509

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002101541 – 748Choline O-acetyltransferaseAdd BLAST748

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei125PhosphoserineBy similarity1
Modified residuei473PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

PTM databases

iPTMnetiP28329
PhosphoSitePlusiP28329

Expressioni

Gene expression databases

BgeeiENSG00000070748
CleanExiHS_CHAT
ExpressionAtlasiP28329 baseline and differential
GenevisibleiP28329 HS

Organism-specific databases

HPAiCAB002313
HPA048547

Interactioni

Protein-protein interaction databases

BioGridi107528, 3 interactors
STRINGi9606.ENSP00000337103

Chemistry databases

BindingDBiP28329

Structurei

Secondary structure

1748
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi139 – 150Combined sources12
Helixi151 – 153Combined sources3
Helixi156 – 169Combined sources14
Helixi175 – 189Combined sources15
Beta strandi190 – 192Combined sources3
Helixi195 – 202Combined sources8
Turni203 – 205Combined sources3
Helixi210 – 213Combined sources4
Beta strandi217 – 219Combined sources3
Helixi228 – 250Combined sources23
Beta strandi261 – 263Combined sources3
Beta strandi265 – 267Combined sources3
Helixi271 – 275Combined sources5
Beta strandi276 – 282Combined sources7
Beta strandi285 – 287Combined sources3
Beta strandi289 – 292Combined sources4
Beta strandi300 – 308Combined sources9
Beta strandi311 – 319Combined sources9
Helixi326 – 340Combined sources15
Helixi343 – 345Combined sources3
Helixi350 – 355Combined sources6
Helixi358 – 369Combined sources12
Helixi372 – 382Combined sources11
Beta strandi387 – 390Combined sources4
Helixi400 – 409Combined sources10
Turni413 – 418Combined sources6
Beta strandi424 – 430Combined sources7
Beta strandi436 – 440Combined sources5
Beta strandi442 – 444Combined sources3
Helixi447 – 461Combined sources15
Helixi489 – 508Combined sources20
Beta strandi509 – 516Combined sources8
Helixi521 – 525Combined sources5
Turni526 – 528Combined sources3
Helixi531 – 547Combined sources17
Beta strandi553 – 558Combined sources6
Beta strandi567 – 569Combined sources3
Helixi575 – 585Combined sources11
Helixi587 – 589Combined sources3
Helixi593 – 615Combined sources23
Helixi621 – 634Combined sources14
Helixi640 – 643Combined sources4
Helixi645 – 650Combined sources6
Beta strandi654 – 659Combined sources6
Beta strandi663 – 665Combined sources3
Beta strandi667 – 669Combined sources3
Beta strandi678 – 684Combined sources7
Beta strandi689 – 696Combined sources8
Helixi704 – 722Combined sources19

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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...

Miscellaneous databases

EvolutionaryTraceiP28329

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni520 – 532Coenzyme A bindingAdd BLAST13

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3717 Eukaryota
ENOG410XNZ9 LUCA
GeneTreeiENSGT00760000119220
HOGENOMiHOG000233845
HOVERGENiHBG107717
InParanoidiP28329
KOiK00623
OMAiGEHSVMD
OrthoDBiEOG091G038F
PhylomeDBiP28329
TreeFamiTF313836

Family and domain databases

InterProiView protein in InterPro
IPR000542 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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCLAT_HUMAN
AccessioniPrimary (citable) accession number: P28329
Secondary accession number(s): A2BDF4
, A2BDF5, Q16488, Q9BQ23, Q9BQ35, Q9BQE1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 15, 2009
Last modified: June 20, 2018
This is version 174 of the entry and version 4 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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

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