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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHAT Gene

protein-coding GIFtS: 69
GCID: GC10P050817

choline O-acetyltransferase

(Previous name: choline acetyltransferase )

Explore 78 diseases affiliated with
CHAT via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Choline O-Acetyltransferase¹ ²		CMS1A²
Choline Acetylase² ³		Acetyl CoA:Choline O-Acetyltransferase²
EC 2.3.1.6³ ⁸		CHOACTase³
CMS1A2² ⁵		ChAT³
Choline Acetyltransferase¹		EC 2.3.1⁸
CHOACTASE²

External Ids:	HGNC: 1912¹	Entrez Gene: 1103²	Ensembl: ENSG00000070748⁷	OMIM: 118490⁵	UniProtKB: P28329³

Export aliases for CHAT gene to outside databases

Previous GC identifers: GC10P049721 GC10P050709 GC10P050161 GC10P050487 GC10P045081

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHAT:

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product

is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of

Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive

impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea.

Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants

have been shown to encode more than one isoform. (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329

Function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses

Gene Wiki entry for CHAT (Choline acetyltransferase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHAT gene promoter:
NRSF form 1 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHAT promoter sequence

Search SABiosciences Chromatin IP Primers for CHAT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHAT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q11.2 Ensembl cytogenetic band: 10q11.23 HGNC cytogenetic band: 10q11.2

CHAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHAT gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P050817: view genomic region (about GC identifiers)

Start:	50,817,141 bp from pter	End:	50,901,925 bp from pter
Size:	84,785 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329 (See protein sequence)

Recommended Name: Choline O-acetyltransferase

Size: 748 amino acids; 82536 Da

4 PDB 3D structures from and Proteopedia for CHAT:

2FY2 (3D)

2FY3 (3D)

2FY4 (3D)

2FY5 (3D)

Secondary accessions: A2BDF4 Q16488 Q9BQ23 Q9BQ35 Q9BQE1

Alternative splicing: 3 isoforms: P28329-1 P28329-2 P28329-3

Explore the universe of human proteins at neXtProt for CHAT: NX_P28329

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P28329

4/13 DME Specific Peptides for CHAT (P28329) (see all 13)

GRVDNIR

YGKTFIK

LPVPPLQQ

QFVVGRDG

CHAT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_001136401.1 NP_001136405.1 NP_001136406.1 NP_065574.3 NP_066264.3 NP_066265.3 NP_066266.3

ENSEMBL proteins:

ENSP00000343486 ENSP00000337103 ENSP00000378929 ENSP00000390521 ENSP00000345878

ENSP00000378926

Reactome Protein details: P28329
Human Recombinant Protein Products:

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	Novus Biologicals CHAT Protein Novus Biologicals CHAT Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CHAT

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	10861222
GO:0005737	cytoplasm	TAS	10861222
GO:0005739	mitochondrion	IEA	--
GO:0005829	cytosol	TAS	--
GO:0019717	synaptosome	--	--

CHAT for ontologies About GeneDecksing

CHAT Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CHAT
	R&D Systems Antibodies for CHAT (Choline Acetyltransferase/ChAT)
	OriGene Antibodies (see all 3): CHAT OriGene Custom Antibody Services for CHAT
	GenScript Custom Superior Antibodies Services for CHAT
	Novus Biologicals CHAT Antibodies
	Abcam antibodies for CHAT
	Uscn Antibodies for CHAT
	ThermoFisher Antibody for CHAT

Assay Products for CHAT:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CHAT
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CHAT

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHAT for domains About GeneDecksing

1 InterPro domain/family:

IPR000542 Carn_acyl_trans

Graphical View of Domain Structure for InterPro Entry P28329

ProtoNet protein and cluster: P28329

1 Blocks protein family: IPB000542 Acyltransferase ChoActase/COT/CPT

UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329

Similarity: Belongs to the carnitine/choline acetyltransferase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329

Function: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses

Catalytic activity: Acetyl-CoA + choline = CoA + O-acetylcholine

Genatlas biochemistry entry for CHAT:

choline acetyltransferase neurotransmitter acetylcholine catalyzing enzyme synthesis,expressed in the brain and spinal

cord

Enzyme Numbers (IUBMB): EC 2.3.1.6¹ ² EC 2.3.1²

miRNA Products:		OriGene 3'-UTR Clone (see all 7): CHAT Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHAT
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CHAT
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHAT (see all 4) OriGene shRNA RFP: CHAT OriGene siRNA: CHAT
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHAT

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CHAT

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHAT (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHAT (see all 7) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 7): CHAT (NM_020984)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CHAT
		Search LifeMap BioReagents cell lines for CHAT

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHAT

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004102	choline O-acetyltransferase activity	IEA	--
GO:0016746	transferase activity, transferring acyl groups	--	--
GO:0033265	choline binding	--	--

CHAT for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CHAT:

Increased G1 DNA content

Animal Models:
Mouse knock-outs for CHAT: Chat/Slc18a3^{Chat/tm1.1Vpra} Chat^tm1Fhg Chat^tm1.1Jrs
9 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Chat):

behavior/neurological	growth/size	homeostasis/metabolism	mortality/aging	muscle
nervous system	normal	reproductive system	skeleton

CHAT for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycerophospholipid biosynthesis

	Glycerophospholipid biosynthesis	1.00			Glycerophospholipid metabolism	0.54
	Phospholipid metabolism	0.64

Transmission across Chemical Synapses

Transmission across Chemical Synapses

1.00

Neuronal System

0.67

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Sympathetic Nerve Pathway (Neuroeffector Junction)

Sympathetic Nerve Pathway (Neuroeffector Junction)

1.00

Selected targets of GCR-alpha

Selected targets of GCR-alpha

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for CHAT

	Selected targets of CREB1
	Selected targets of GCR-alpha

3 BioSystems Pathways for CHAT

	Biogenic Amine Synthesis
	Acetylcholine Synthesis
	SIDS Susceptibility Pathways

5/9 Reactome Pathways for CHAT (see all 9)

	Acetylcholine Neurotransmitter Release Cycle
	Transmission across Chemical Synapses
	Metabolism
	Neurotransmitter Release Cycle
	Phospholipid metabolism

2 PharmGKB Pathways for CHAT

	Sympathetic Nerve Pathway (Neuroeffector Junction)
	Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

2 Kegg Pathways (Kegg details for CHAT):

	Glycerophospholipid metabolism
	Cholinergic synapse

CHAT for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CHAT

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/25 Interacting proteins for CHAT (P28329³ ENSP00000337103⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NEDD9	Q14511³, ENSP00000368759⁴	I2D: score=1 STRING: ENSP00000368759
PRKCB	P05771³, ENSP00000305355⁴	I2D: score=1 STRING: ENSP00000305355
PRKCD	Q05655³, ENSP00000331602⁴	I2D: score=1 STRING: ENSP00000331602
PRKCG	P05129³, ENSP00000263431⁴	I2D: score=1 STRING: ENSP00000263431
PRKCZ	Q05513³, ENSP00000367830⁴	I2D: score=1 STRING: ENSP00000367830

About this table

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001547	antral ovarian follicle growth	--	--
GO:0001666	response to hypoxia	--	--
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006656	phosphatidylcholine biosynthetic process	TAS	--
GO:0007268	synaptic transmission	TAS	--

CHAT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CHAT for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for CHAT

Browse Tocris compounds for CHAT

4 HMDB Compounds for CHAT About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Acetylcholine	ACh (see all 7)	51-84-3	--
Choline	(2-Hydroxyethyl)trimethyl ammonium (see all 19)	62-49-7	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--

1 DrugBank Compound for CHAT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Choline	Bilineurine (see all 7)	62-49-7	enzyme	substrate	17144655 16131766 17150236 16941497 16541262

10/101 Novoseek chemical compound relationships for CHAT gene (see all 101) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
choline	97.7	1685	12486117 (10), 8690205 (9), 1334236 (7), 1721693 (7) (see all 99)
acetylcholine	85.7	445	16846505 (6), 8967505 (4), 8852430 (3), 15721778 (3) (see all 99)
(2-benzoylethyl)trimethylammonium iodide	76	2	1933404 (1)
n-aminodeanol	74.4	1	1574534 (1)
af 64a	66.3	11	8618417 (3), 12600723 (2), 10640295 (1), 2149667 (1) (see all 5)
(+-)vesamicol	64.9	3	10579560 (1), 8783231 (1), 2151294 (1)
trapoxin	61.6	10	9602089 (4), 10207071 (2), 8804715 (1)
acetyl-coa	56.5	27	16787407 (2), 17144655 (2), 9733738 (1), 16131766 (1) (see all 16)
glutamate	53.9	55	12739242 (2), 10683406 (2), 7867752 (1), 8797663 (1) (see all 38)
pre-prosomatostatin	53.7	6	16023618 (2), 8915584 (1), 10582523 (1)

Search CenterWatch for drugs/clinical trials and news about CHAT / CLAT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHAT gene (7 alternative transcripts):

NM_001142929.1 NM_001142933.1 NM_001142934.1 NM_020549.4 NM_020984.3 NM_020985.3 NM_020986.3

Unigene Cluster for CHAT:

Choline O-acetyltransferase

Hs.302002 [show with all ESTs]

Unigene Representative Sequence: AF305908

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000339797(uc001jhv.1) ENST00000460699 ENST00000497767 ENST00000481336

ENST00000337653(uc001jhz.2) ENST00000466590 ENST00000490270 ENST00000395562(uc001jia.2)

ENST00000455728 ENST00000351556(uc001jhx.1 uc010qgs.1) ENST00000395559(uc001jhy.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 7): CHAT Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHAT
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHAT

Additional cDNA sequence:

AF305907.1 AF305908.2 AF305909.1 AF450452.1 BC130615.1 BC130617.1 D82339.1 D82340.1

D82341.1 D82342.1 S45018.1 S56138.1

5 DOTS entries:

DT.100743369 DT.91732308 DT.91732305 DT.91732304 DT.95105700

24/32 AceView cDNA sequences (see all 32):

BX102324 AF305909 D82342 BV183664 NM_020985 AF305907 AX747176 AI917746

AI990484 BI825648 BI826396 AI216456 NM_020986 NM_020984 AW665925 NM_182554

NM_020549 D82341 BX280506 AK091773 S45018 S56138 D82340 BC028127

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CHAT (see all 6) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	·	14c	^	15	^	16	^	17	^	18a	·	18b
SP1:					-																		-								-
SP2:			-		-		-																-								-
SP3:					-		-																-								-
SP4:
SP5:																															-

ECgene alternative splicing isoforms for CHAT

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAGACCTCT

About this image

CHAT expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Ganglion Cell Layer

Cholinergic Amacrine Cells

Selective marker (cell-identifying gene)

Amacrine, Retina

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Ganglion Cell Layer

Dopaminergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Dopaminergic Amacrine Cells

Amacrine, Retina

Ovary

Antral Follicle

Secondary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

Motor neuron-like cells (Generation of motor ...)

Motor Neurons, Spinal Cord

Motor neuron-like cells (Generation of motor ...)

Motor neuron-like and Interneuron-like cells (Generation of motor ...)

Motor neuron-like cells (Motor neuron differe...)

Motor neuron-like cells (Differentiation of ...)

Matured motor neuron-like cells (Spinal motor neurons...)

See CHAT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHAT

SOURCE GeneReport for Unigene cluster: Hs.302002

SABiosciences Expression via Pathway-Focused PCR Arrays including CHAT:

Neurogenesis in human mouse rat

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Alzheimer's Disease in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHAT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHAT gene from 5/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CHAT¹	choline O-acetyltransferase	72.26(n) 78.01(a)		395314 NM_204610.1 NP_989941.1
lizard (Anolis carolinensis)	Reptilia	CHAT⁶	--	76(a)	1 ↔ 1	GL343199.1(3507689-3582746)
zebrafish (Danio rerio)	Actinopterygii	zgc64220²	similar to solute carrier family 18 (vesicular monoamine), more	77.2(n)		394082 BC054646.1
fruit fly (Drosophila melanogaster)	Insecta	CG5122³ Cha¹	carnitine O-acetyltransferase³ Choline acetyltransferase¹	38(a) (best of 3)³ 52.7(n)¹ 41.58(a)¹		42249¹ NM_057656.2¹ NP_477004.5¹
worm (Caenorhabditis elegans)	Secernentea	B0395.3³ unc-17¹	choline O-acetyltransferase³ UNCoordinated¹	34(a) (best of 2)³ 45.9(n)¹ 37.7(a)¹		X(16066025-16070026)³ 177124¹ NM_001028432.1¹ NP_001023603.1¹

ENSEMBL Gene Tree for CHAT (if available)
TreeFam Gene Tree for CHAT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHAT gene

CROT² CPT1C² CRAT² CPT1B² CPT1A²

4 SIMAP similar genes for CHAT using alignment to 4 protein entries: CLAT_HUMAN (see all proteins):

ChAT CRAT CROT CPT1B

CHAT for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75466054^1,2	C	pathogenic	45576540(+)	`CGTCAC/G/TCGTAG`	21	T S I	mis¹		1	NA	2
rs111255024^1,2		--	45080092(+)	`GATTGG/AGGGGG`	1	--	us2k¹		2	CSA WA	120
rs11101181^1,2	F,H,	--	45080179(+)	`ACCTTC/TCTCCT`	1	--	us2k¹ trp³		6	NS EA CSA WA	508
rs79634917^1,2	C,F,	--	45080458(+)	`GCACAC/AACAAT`	1	--	us2k¹		1	WA	118
rs7067651^1,2	C,F,H,	--	45080464(+)	`ACAATA/GCTCCT`	1	--	us2k¹		22	NS EA NA WA	2847
rs75287762^1,2	C,	--	45080639(+)	`NNNNCT/CCTATG`	1	--	us2k¹		3	NA WA	240
rs75772065^1,2	C,	--	45080880(+)	`GGGGCG/AAGATT`	1	--	us2k¹		1	NA	2
rs78167513^1,2	F,	--	45080888(+)	`ATTGGG/AATGTG`	1	--	us2k¹		1	WA	118
rs73319003^1,2	C,	--	45081093(+)	`CAGGCC/TTGTGC`	1	--	us2k¹		2	WA	120
rs80200823^1,2	C,F,	--	45081978(+)	`AGCACG/CGGCGC`	1	--	ut5¹		4	WA CSA	124

HapMap Linkage Disequilibrium report for CHAT (50817141 - 50901925 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHAT: --
Human Gene Mutation Database (HGMD): CHAT

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHAT

DNA2.0 Custom Variant and Variant Library Synthesis for CHAT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CHAT for disorders           About GeneDecksing

OMIM gene information: 118490
OMIM disorders: 254210
UniProtKB/Swiss-Prot: CLAT_HUMAN, P28329

Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210];

formerly known as familial infantile myasthenia gravis 2 (FIMG2). CMSEA is an autosomal recessive congenital

myasthenic syndrome. Patients 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

20/78 diseases for CHAT (see all 78): About MalaCards

congenital myasthenic syndrome myasthenic syndrome cri-du-chat syndrome apnea

alzheimer's disease sudden infant death syndrome congenital myasthenic syndrome with episodic apnea supranuclear palsy

olivopontocerebellar atrophy lewy body dementia progressive supranuclear palsy amyotrophic lateral sclerosis

interleukin receptor memory impairment multiple system atrophy type 2 diabetes mellitus

lateral sclerosis neuronitis muscular atrophy myasthenia gravis

4 diseases from the University of Copenhagen DISEASES database for CHAT:

Alzheimer's disease Amyotrophic lateral sclerosis Toxic encephalopathy Amnestic disorder

10/52 Novoseek disease relationships for CHAT gene (see all 52) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	79.4	88	15364407 (3), 2166243 (2), 16797789 (2), 2054656 (2) (see all 58)
myasthenic syndromes congenital	79.1	11	12609506 (3), 12756141 (1), 15381704 (1), 19520274 (1) (see all 7)
senile plaques	68.8	16	2222780 (1), 18392212 (1), 12590165 (1), 1360195 (1) (see all 12)
inherited olivopontocerebellar atrophy	61	1	8105030 (1)
neurofibrillary tangles	60.2	11	2313304 (3), 1374541 (1), 18392212 (1), 10443555 (1) (see all 8)
neuron loss	59	6	12739242 (1), 17890007 (1), 2375630 (1), 2153271 (1) (see all 5)
neurodegeneration	58.6	4	18701765 (1), 20034403 (1), 2054656 (1), 15725587 (1)
dementia	57.5	22	10443555 (3), 9143263 (2), 15364407 (1), 8401788 (1) (see all 13)
amyotrophic lateral sclerosis	55.2	9	8808298 (2), 1624947 (1), 1515593 (1), 1469422 (1)
acetylcholinesterase expression	54.2	2	10708910 (1), 8188852 (1)

GeneTests: CHAT

Congenital Myasthenic Syndromes

Genetic Association Database (GAD): CHAT
Human Genome Epidemiology (HuGE) Navigator: CHAT (34 documents)

Export disorders for CHAT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CHAT gene, integrated from 9 sources (see all 724):
(articles sorted by number of sources associating them with CHAT)

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Substrate binding and catalytic mechanism of human choline acetyltransferase. (PubMed id 17144655)^{1, 2, 7, 9} Kim A.-R.... Shilton B.H. (2006)
A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells. (PubMed id 1337937)^{1, 2, 9} Oda Y.... Deguchi T. (1992)
Two mRNAs are transcribed from the human gene for choline acetyltransferase. (PubMed id 1388731)^{1, 2, 9} Lorenzi M.V.... Strauss W.L. (1992)
Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions. (PubMed id 1339386)^{1, 2, 9} Toussaint J.L.... Kempf J. (1992)
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. (PubMed id 11172068)^{1, 2, 9} Ohno K.... Engel A.G. (2001)
Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. (PubMed id 15690550)^{1, 4, 9} Cook L.J....Rubinsztein D.C. (2005)
Choline acetyltransferase G +4 A polymorphism confers a risk for Alzheimer's disease in concert with Apolipoprotein E epsilon4. (PubMed id 15276243)^{1, 4, 9} Kim K.W....Woo J.I. (2004)
Lack of association between a single nucleotide polymorphism within the choline acetyltransferase gene and patients with Alzheimer's disease. (PubMed id 12770689)^{1, 4, 9} Schwarz S....Riemenschneider M. (2003)
Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer's disease. (PubMed id 12401548)^{1, 4, 9} Mubumbila V....Quirin-Stricker C. (2002)
Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyltransferase gene. (PubMed id 1784419)^{1, 2, 9} Cervini R.... Finocchiaro G. (1991)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1103	HGNC: 1912	AceView: CHAT	Ensembl:ENSG00000070748	euGenes: HUgn1103
ECgene: CHAT	Kegg: 1103	H-InvDB: CHAT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CHAT	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHAT
Wikipedia	http://en.wikipedia.org/wiki/Choline_acetyltransferase

Intellectual Property for CHAT gene
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Patent Information for CHAT gene:
Search GeneIP for patents involving CHAT

GeneCards and IP:
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choline O-acetyltransferase

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Supranuclear Palsy Progressive
major depression
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CHAT Gene

choline O-acetyltransferase

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