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CHAT Gene

protein-coding GIFtS: 68

GC10P050487

choline acetyltransferase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
CHOACTase ^³
CMS1A ^²
CMS1A2 ^², ⁵
ChAT ^³
EC 2.3.1.6 ^³
OTTHUMP00000019583 ^²
OTTHUMP00000019584 ^²

Descriptions
Choline acetylase ^³
acetyl CoA:choline O-acetyltransferase ^²
choline acetyltransferase ^²

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

Search outside databases for aliases for CHAT gene

Previous GC identifers: GC10P049721 GC10P050709 GC10P050161

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

EntrezGene 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 disease. 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CHAT gene

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)

GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P050487: (about GC identifiers)

Start:	50,487,147 bp from pter
End:	50,543,156 bp from pter
Size:	56,010 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000010.9 NT_017696.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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

Recommended Name: Choline O-acetyltransferase

Size: 748 amino acids; 82568 Da

PDB structures from and Proteopedia :

2FY2 (3D)

2FY3 (3D)

2FY4 (3D)

2FY5 (3D)

Secondary accessions: Q16488 Q9BQ23 Q9BQ35 Q9BQE1

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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

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:

ENSP00000378929 ENSP00000343486 ENSP00000345878 ENSP00000378926 ENSP00000337103

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant CHAT Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Choline Acetyltransferase)
	Human Recombinant Proteins from Abnova (CHAT)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	10861222
GO:0005737	cytoplasm	TAS	10861222
GO:0043025	cell soma	IEA	--

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Antibodies for CHAT:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of CHAT
	Sigma-Aldrich Antibodies for CHAT
	R&D Systems Antibodies for CHAT (Choline Acetyltransferase/ChAT)
	Antibodies from Abcam (Choline Acetyltransferase), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibody for ChAT

Assays for CHAT:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of CHAT
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CHAT)
		Millipore RNAi Products for the Analysis of CHAT Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CHAT)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001142929

Applied Biosystems Silencer® siRNAs for CHAT

Sigma-Aldrich siRNA and siRNA Panels for CHAT

Sigma-Aldrich shRNA for CHAT

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_001142929
Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_001142929
untagged cDNA clones in CMV expression vector (see all 7): NM_001142929

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_020549

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

Enzyme Number (IUBMB): EC 2.3.1.6

Genatlas biochemistry entry for CHAT:

choline acetyltransferase neurotransmitter acetylcholine catalyzing enzyme synthesis,expressed in

the brain and spinal cord

8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Chat):

behavior/neurological	growth/size	lethality-postnatal	lethality-prenatal/perinatal	muscle
nervous system	normal	skeleton

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004102	choline O-acetyltransferase activity	IEA	--
GO:0008415	acyltransferase activity	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for CHAT (Your Favorite Gene powered by Ingenuity)

Glycerophospholipid Metabolism

GeneDecks CHAT for the pathways selected above

About GeneDecksing

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

5/67 Interacting proteins for CHAT (ENSP00000337103³) via UniProtKB, MINT, and/or STRING (see all 67 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GAL	ENSP00000265643³	STRING (score=.967)
NGF	ENSP00000358525³	STRING (score=.966)
CHKA	ENSP00000265689³	STRING (score=.956)
CHKB-CPT1B	ENSP00000312189³	STRING (score=.956)
BDNF	ENSP00000320002³	STRING (score=.953)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007274	neuromuscular synaptic transmission	IEA	--
GO:0007517	muscle development	IEA	--
GO:0007529	establishment of synaptic specificity at neuromuscular junction	IEA	--
GO:0007622	rhythmic behavior	IEA	--
GO:0007628	adult walking behavior	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CHAT
10/45 Novoseek chemical compound relationships for CHAT gene (see all 45 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
(2-benzoylethyl)trimethylammonium iodide	76.34	2	1933404 (1)
n-aminodeanol	74.73	1	1574534 (1)
(+-)vesamicol	65.61	3	10579560 (1), 8783231 (1), 2151294 (1)
acetyl-coa	56.83	25	16787407 (2), 17144655 (2), 9733738 (1), 16131766 (1) (see all 15)
pre-prosomatostatin	54.52	6	16023618 (2), 8915584 (1), 10582523 (1)
quinolinic acid	50.95	9	9171158 (2), 10392842 (2), 1848283 (1), 9331174 (1) (see all 5)
alpha-bungarotoxin	48.98	4	15623769 (1), 7475869 (1), 11431227 (1)
tyrosine	42.61	62	7909146 (6), 8294910 (1), 10495446 (1), 11113579 (1) (see all 43)
5-hydroxyindoleacetic acid	40.77	4	8123190 (1), 1355334 (1), 1383420 (1), 7830069 (1)
pd 98,059	20.85	3	9602089 (1), 10207071 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CHAT)
		Millipore RNAi Products for the Analysis of CHAT Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CHAT)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_001142929

Sigma-Aldrich siRNA and siRNA Panels for CHAT

Sigma-Aldrich shRNA for CHAT

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001142929 NM_001142933 NM_001142934 NM_020549 NM_020984 NM_020985 NM_020986

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

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001142929 NM_001142933 NM_001142934 NM_020549 NM_020984 NM_020985 NM_020986

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_001142929
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_001142929
                                 untagged cDNA clones in CMV expression vector (see all 7): NM_001142929

Additional cDNA sequence:

AF305907.1 AF305908.2 AF305909.1 AF450452.1 AK296108.1 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 ):

AF305909 BX102324 D82342 S56138 AI216456 BV183664 AI990484 D82340

NM_020985 AF305907 BI826396 AK091773 D82341 D82339 BC028127 AX747176

BX280506 AI917746 NM_020986 NM_182554 NM_020549 AF305908 S45018 NM_020984

highest scoring ESTs for CHAT:

AF305907 AF305908 S56138 AF305909 BC130615 BC130617 D82339 DB100103 BE782465 BI826396

Unigene Cluster for CHAT:

Choline acetyltransferase

Hs.302002 [show with all ESTs]

Unigene Representative Sequence: AF305908

GeneLoc Exon Structure

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

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:																															-

About this scheme

ECgene alternative splicing isoforms for CHAT

5 Ensembl transcripts including schematic representations:

ENST00000395562 ENST00000339797 ENST00000351556 ENST00000395559 ENST00000337653

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CHAT expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CHAT

¹ / ² / ³

2 probe-sets matching CHAT gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
221197_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_020985	0.60	0.83	0.73	1
221197_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GTGAATGAAG

SOURCE GeneReport for Unigene cluster: Hs.302002

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CHAT gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CHAT¹	--	choline acetyltransferase	88.78(n) 91.59(a)	486775 XM_543902.2 XP_543902.2
rat (Rattus norvegicus)	Chat¹	--	choline acetyltransferase	83.87(n) 84.64(a)	290567 XM_224626.4 XP_224626.4
mouse (Mus musculus)	Chat^{1, 5}	14 (10.50 cM)⁵	choline acetyltransferase^{1, 5}	85.93(n)¹ 88.03(a)¹	12647¹ NM_009891.2¹ NP_034021.1¹ AK046406⁵ AK047708⁵ (see all 20)
chicken (Gallus gallus)	CHAT¹	--	choline acetyltransferase	72.2(n) 77.85(a)	395314 NM_204610.1 NP_989941.1
zebrafish (Danio rerio)	zgc64220²	--	similar to solute carrier family 18 (vesicular monoamine), more	77.2(n)	394082 BC054646.1

About this table Species with no ortholog for CHAT

ENSEMBL Gene Tree for CHAT

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

Paralogs for CHAT gene

CPT2² CRAT²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/341 NCBI SNPs in CHAT are shown (see all 341 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 200)

AB	SNP ID	Valid	Chr 10 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs885834^1,2	A,C,F,H,O	50485518(+)	`AATAGA/GGAAGC`	1	--	ng5¹		17	EA EU WA NS NA	2918
	rs1880676^1,2	A,C,F,H	50494123(+)	`GCAGAG/AATGAA`	6	N/D	mis¹ int¹ ut5¹ ese³		14	EU EA WA NS	1712
	rs868749^1,2	A,C,F,H	50503668(+)	`CATGCC/TGGAGC`	7	P/L	mis¹		11	EA MN EU WA	1200
	rs7903315^1,2	A,C,F,H	50492198(+)	`ATTCTG/CGGGGC`	7	--	ut5¹ int¹ ese³		4	EU EA WA	412
	rs8178984^1,2	A,C,F,H	50492022(+)	`CAACCC/GTCTCC`	4	--	int¹ ng5¹		6	NS EU WA NA	690
	rs8178990^1,2	C,F,H	50500177(+)	`GTGTAC/TTCAGC`	7	L/F	mis¹ ese³		9	NS EU EA WA	2368
	rs4838544^1,2	C,F,H	50526658(+)	`AGCACA/GTGTGA`	7	M/V	mis¹ ese³		15	EU EA WA NA	1390
	rs8178989^1,2	C,F,H	50498632(+)	`TGCTCG/CGCAGC`	7	P/R	mis¹ ese³		9	NS EU WA EA	1226
	rs3810950^1,2	C,F,H	50494625(+)	`AGATGA/GCAGCA`	7	A/T	mis¹		18	EA NS NA EU WA	4466
	rs7067651^1,2	C,F,H	50485702(+)	`acaatA/Gctcct`	1	--	ng5¹		9	NS EU EA WA	1164

About this table

HapMap Linkage Disequilibrium images for CHAT (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 118490 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

10/51 Novoseek disease relationships for CHAT gene (see all 51 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	79.75	87	15364407 (3), 2166243 (2), 16797789 (2), 2054656 (2) (see all 57)
myasthenic syndromes congenital	77.81	10	12609506 (3), 12756141 (1), 15381704 (1), 15701560 (1) (see all 6)
senile plaques	69.51	15	2222780 (1), 18392212 (1), 12590165 (1), 1360195 (1) (see all 11)
inherited olivopontocerebellar atrophy	61.50	1	8105030 (1)
neurofibrillary tangles	61.43	11	2313304 (3), 1374541 (1), 18392212 (1), 10443555 (1) (see all 8)
neuron loss	60.57	6	12739242 (1), 17890007 (1), 2375630 (1), 2153271 (1) (see all 5)
neurodegeneration	58.28	3	18701765 (1), 2054656 (1), 15725587 (1)
dementia	57.29	21	10443555 (3), 9143263 (2), 15364407 (1), 8401788 (1) (see all 12)
amyotrophic lateral sclerosis	56.16	9	8808298 (2), 1624947 (1), 1515593 (1), 1469422 (1)
acetylcholinesterase expression	55.04	2	10708910 (1), 8188852 (1)

About this table

GeneTests: CHAT

Congenital Myasthenic Syndromes

Human Gene Mutation Database: CHAT
Genetic Association Database: CHAT
Human Genome Epidemiology Navigator: CHAT (22 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Is the Cholinergic System Compromised Throughout the Course of Alzheimer's Disease?: Presented at AAT

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/567 PubMed articles for CHAT gene (see all 567 ):

A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells. (PubMed id 1337937)^{1, 3, 4} Oda Y.... Deguchi T. (1992)
Two mRNAs are transcribed from the human gene for choline acetyltransferase. (PubMed id 1388731)^{1, 3, 4} Lorenzi M.V.... Strauss W.L. (1992)
Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions. (PubMed id 1339386)^{1, 3, 4} Toussaint J.L.... Kempf J. (1992)
Substrate binding and catalytic mechanism of human choline acetyltransferase. (PubMed id 17144655)^{1, 3, 4} Kim A.R....Shilton B.H. (2006)
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. (PubMed id 11172068)^{1, 3, 4} 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, 3, 6} 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, 3, 6} Kim K.W....Woo J.I. (2004)
Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer's disease. (PubMed id 12401548)^{1, 3, 6} 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, 3, 4} Cervini R.... Finocchiaro G. (1991)
Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease. (PubMed id 16223550)^{3, 6} Ozturk A....Kamboh M.I. (2006)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 1103	HGNC: 1912	AceView: CHAT	Ensembl:ENSG00000070748	euGenes: HUgn1103
ECgene: CHAT	H-InvDB: CHAT

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=CHAT
Wikipedia	http://en.wikipedia.org/wiki/Choline_acetyltransferase

Licensable Technologies for CHAT
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for CHAT:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CHAT-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for CHAT		Antibodies for CHAT
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for CHAT		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (CHAT)
	Search for Antibodies
	Chimera RNAi (CHAT)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Choline Acetyltransferase)
	Antibodies (Choline Acetyltransferase)

Search OriGene for CHAT

Search Tocris compounds for CHAT

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ChAT

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
CHAT Gene at Home site.
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CHAT Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for CHAT

Summaries
for CHAT

Genomic Location
for CHAT

Proteins
for CHAT

Protein Domains/
Families
for CHAT

Gene Function
for CHAT

Pathways & Interactions
for CHAT

Drugs & Compounds
for CHAT

Transcripts
for CHAT

Expression
for CHAT

Orthologs
for CHAT

Paralogs
for CHAT

SNPs/Variants
for CHAT

Disorders & Mutations
for CHAT

Medical News
for CHAT

Publications
for CHAT

Search for CHAT

Genome Databases showing CHAT

Other Databases showing CHAT

Specialized Databases showing CHAT

Licensable Technologies
for CHAT

Services
for CHAT

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CHAT Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor CHAT

Summariesfor CHAT

Genomic Locationfor CHAT

Proteinsfor CHAT

Protein Domains/Familiesfor CHAT

Gene Functionfor CHAT

Pathways & Interactionsfor CHAT

Drugs & Compoundsfor CHAT

Transcriptsfor CHAT

Expression for CHAT

Orthologsfor CHAT

Paralogsfor CHAT

SNPs/Variantsfor CHAT

Disorders & Mutationsfor CHAT

Medical Newsfor CHAT

Publicationsfor CHAT

Search for CHAT

Genome Databases showing CHAT

Other Databases showing CHAT

Specialized Databases showing CHAT

Licensable Technologiesfor CHAT

Servicesfor CHAT

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CHAT

Summaries
for CHAT

Genomic Location
for CHAT

Proteins
for CHAT

Protein Domains/
Families
for CHAT

Gene Function
for CHAT

Pathways & Interactions
for CHAT

Drugs & Compounds
for CHAT

Transcripts
for CHAT

Expression
for CHAT

Orthologs
for CHAT

Paralogs
for CHAT

SNPs/Variants
for CHAT

Disorders & Mutations
for CHAT

Medical News
for CHAT

Publications
for CHAT

Licensable Technologies
for CHAT

Services
for CHAT