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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACHE Gene

protein-coding GIFtS: 70
GCID: GC07M100487

acetylcholinesterase

(Previous names: acetylcholinesterase (YT blood group), acetylcholinesterase...)
(Previous symbol: YT)

Explore 146 diseases affiliated with
ACHE 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
Acetylcholinesterase¹		N-ACHE²
YT¹ ² ⁵		Apoptosis-Related Acetylcholinesterase²
EC 3.1.1.7³ ⁸		Yt Blood Group²
Acetylcholinesterase (Yt Blood Group)¹		AChE³
ACEE²		EC 3.1.1⁸
ARACHE²

External Ids:	HGNC: 108¹	Entrez Gene: 43²	Ensembl: ENSG00000087085⁷	OMIM: 100740⁵	UniProtKB: P22303³

Export aliases for ACHE gene to outside databases

Previous GC identifers: GC07M099022 GC07M100085 GC07M100099 GC07M100132 GC07M100325 GC07M095117

(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 ACHE:

Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic

synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it

constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar

catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is

encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA

splicing, and post-translational associations of catalytic and structural subunits. The major form of

acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked

oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed

primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a

GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added

post-translationally. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACES_HUMAN, P22303

Function: Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine

released into the synaptic cleft. Role in neuronal apoptosis

summary for ACHE:

Cholinesterases inactivate the neurotransmitter acetylcholine by catalyzing its hydrolysis to choline and

acetic acid. Acetylcholinesterase (AChE) is found in erythroid cells and at neuronal synapses, whilst

butyrylcholinesterase is mostly expressed in the liver. The high enzymatic rate of AChE means that it

effectively terminates signal transmission at cholinergic synpases. AChE is the target of organophosphate

nerve agents such as sarin and VX. Clinically, AChE inhibitors have found a number of uses, with

physostigmine used to treat glaucoma. AChE inhibitors are also used in the management of mild to moderate

Alzheimer's disease.

Gene Wiki entry for ACHE (Acetylcholinesterase)

(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_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACHE gene promoter:
TBP Sp1 Egr-1
Other transcription factors

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

Search SABiosciences Chromatin IP Primers for ACHE

Epigenetics:

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

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

Entrez Gene cytogenetic band: 7q22 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22

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

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M100487: view genomic region (about GC identifiers)

Start:	100,487,615 bp from pter	End:	100,494,594 bp from pter
Size:	6,980 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 99,847,220-99,853,146

(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: ACES_HUMAN, P22303 (See protein sequence)

Recommended Name: Acetylcholinesterase precursor

Size: 614 amino acids; 67796 Da

Subunit: Interacts with PRIMA1. The interaction with PRIMA1 is required to anchor it to the basal lamina of cells and

organize into tetramers (By similarity). Isoform H generates GPI-anchored dimers; disulfide linked. Isoform T

generates multiple structures, ranging from monomers and dimers to collagen-tailed and hydrophobic-tailed forms, in

which catalytic tetramers are associated with anchoring proteins that attach them to the basal lamina or to cell

membranes. In the collagen-tailed forms, isoform T subunits are associated with a specific collagen, COLQ, which

triggers the formation of isoform T tetramers, from monomers and dimers. Isoform R may be monomeric

Subcellular location: Cell junction, synapse. Secreted (By similarity). Cell membrane; Peripheral membrane protein (By

similarity)

Subcellular location: Isoform T: Nucleus. Note=Only observed in apoptotic nuclei

Subcellular location: Isoform H: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (By similarity)

6/13 PDB 3D structures from and Proteopedia for ACHE (see all 13):

1B41 (3D)

1F8U (3D)

1PUV (3D)

1PUW (3D)

1VZJ (3D)

2CLJ (3D)

Secondary accessions: A4D2E2 B7ZKZ0 D6W5X7 Q16169 Q29S23 Q2M324 Q504V3 Q53F46 Q86TM9 Q86YX9 Q9BXP7

Alternative splicing: 4 isoforms: P22303-1 P22303-2 P22303-4 P22303-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACHE: NX_P22303

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P22303

4/27 DME Specific Peptides for ACHE (P22303) (see all 27)

AFGFLAL

HGYEIEF

LALQWVQ

PNGPWAT

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

REFSEQ proteins (2 alternative transcripts):

NP_000656.1 NP_056646.1

ENSEMBL proteins:

ENSP00000403474 ENSP00000241069 ENSP00000414858 ENSP00000394976 ENSP00000397143

ENSP00000390004 ENSP00000410380 ENSP00000399725 ENSP00000415901 ENSP00000404865

ENSP00000396360 ENSP00000400933 ENSP00000303211

Reactome Protein details: P22303
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for ACHE (Acetylcholinesterase/ACHE)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: ACHE OriGene Protein Over-expression Lysate (see all 3): ACHE OriGene Custom Protein Services for ACHE
	GenScript Custom Purified and Recombinant Proteins Services for ACHE
	Novus Biologicals ACHE Proteins Novus Biologicals ACHE Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	11283752
GO:0005605	basal lamina	NAS	16289501
GO:0005615	extracellular space	IBA	--
GO:0005634	nucleus	IEA	--
GO:0005788	endoplasmic reticulum lumen	IBA	--

ACHE for ontologies About GeneDecksing

ACHE Antibody Products:

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

Assay Products for ACHE:

	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 ACHE
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

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

ACHE for domains About GeneDecksing

5 InterPro domains/families:

IPR019826 Carboxylesterase_B_AS

IPR000997 Cholinesterase

IPR014788 AChE_tetra

IPR019819 Carboxylesterase_B_CS

IPR002018 CarbesteraseB

Graphical View of Domain Structure for InterPro Entry P22303

ProtoNet protein and cluster: P22303

1 Blocks protein family: IPB000997 Cholinesterase signature

UniProtKB/Swiss-Prot: ACES_HUMAN, P22303

Similarity: Belongs to the type-B carboxylesterase/lipase 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: ACES_HUMAN, P22303

Function: Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine

released into the synaptic cleft. Role in neuronal apoptosis

Catalytic activity: Acetylcholine + H(2)O = choline + acetate

Genatlas biochemistry entry for ACHE:

acetylcholinesterase

Enzyme Numbers (IUBMB): EC 3.1.1.7¹ ² EC 3.1.1²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ACHE Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACHE
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate ACHE (see all 13):
		hsa-miR-4324 hsa-miR-3184 hsa-miR-125a-5p hsa-miR-3065-5p hsa-miR-423-5p hsa-miR-587 hsa-miR-124 hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: ACHE 3' UTR sequence

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 ACHE (see all 7) OriGene shRNA RFP: ACHE OriGene siRNA: ACHE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACHE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACHE

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 ACHE (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACHE (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ACHE (NM_015831)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACHE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACHE

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACHE
		Search LifeMap BioReagents cell lines for ACHE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACHE

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001540	beta-amyloid binding	TAS	11283752
GO:0003990	acetylcholinesterase activity	IMP	1517212
GO:0004091	carboxylesterase activity	IBA	--
GO:0004104	cholinesterase activity	IDA	1517212
GO:0005515	protein binding	IPI	18194455

ACHE for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for ACHE: Ache^tm4Pata Ache^tm4.1Pata Ache^tm1.1Hssh Ache^tm3Pata Ache^tm1Loc
     14 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Ache):

adipose tissue	behavior/neurological	craniofacial	growth/size	hearing/vestibular/ear
hematopoietic system	homeostasis/metabolism	mortality/aging	muscle	nervous system
no phenotypic analysis	reproductive system	respiratory system	vision/eye

ACHE 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 - 5/16 super-pathways (see all 16) 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

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

Synthesis, Secretion, and Deacylation of Ghrelin

0.46

Deacylation of Acyl Ghrelin

0.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for ACHE (see all 6)

	Acetylcholine Synthesis
	Biogenic Amine Synthesis
	Monoamine Transport
	Integrated Pancreatic Cancer Pathway
	Integrated Pancreatic Cancer Pathway

5/12 Reactome Pathways for ACHE (see all 12)

	Transmission across Chemical Synapses
	Metabolism
	Phospholipid metabolism
	Neuronal System
	Synthesis of PC

2 PharmGKB Pathways for ACHE

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

2 Kegg Pathways (Kegg details for ACHE):

	Glycerophospholipid metabolism
	Cholinergic synapse

ACHE for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/23 Interacting proteins for ACHE (P22303^{1, 2, 3} ENSP00000303211⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COLQ	Q9Y215¹^,³, ENSP00000373298⁴	EBI-1637793,EBI-1637847 I2D: score=3 STRING: ENSP00000373298
GNB2L1	P63244¹^,³, ENSP00000366013⁴	EBI-1637793,EBI-2559282 I2D: score=1 STRING: ENSP00000366013
ENO1	P06733¹^,³, ENSP00000234590⁴	EBI-1637793,EBI-353877 I2D: score=1 STRING: ENSP00000234590
APP	P05067³, ENSP00000284981⁴	I2D: score=3 STRING: ENSP00000284981
LAMB1	P07942³, ENSP00000222399⁴	I2D: score=2 STRING: ENSP00000222399

About this table

Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001507	acetylcholine catabolic process in synaptic cleft	NAS	1517212
GO:0001919	regulation of receptor recycling	IEA	--
GO:0002076	osteoblast development	IEP	15454088
GO:0006260	DNA replication	TAS	11283752
GO:0006581	acetylcholine catabolic process	IDA	1517212

ACHE 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

ACHE for compounds About GeneDecksing

EMD Millipore small molecules for ACHE:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for ACHE

Compounds for ACHE available from Tocris Bioscience About this table

Compound	Action	CAS #
Tacrine hydrochloride	Cholinesterase inhibitor	[1684-40-8]
Physostigmine hemisulfate	Cholinesterase inhibitor	[64-47-1]
Galanthamine hydrobromide	Cholinesterase inhibitor	[1953-04-4]
Ambenonium dichloride	Cholinesterase inhibitor	[52022-31-8]
Acephate	Anticholinesterase insecticide	[30560-19-1]

5 HMDB Compounds for ACHE About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetic acid	Acetate (see all 12)	64-19-7	--
Acetylcholine	ACh (see all 7)	51-84-3	--
Choline	(2-Hydroxyethyl)trimethyl ammonium (see all 19)	62-49-7	--
Donepezil	Aricept (see all 3)	120014-06-4	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

10/49 DrugBank Compounds for ACHE (see all 49) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Galantamine	(-)-Galanthamine (see all 3)	357-70-0	target	inhibitor	10971049 12137632 10606746 11129124 10762042 11752352 12481195 20480924 11078030 10592235 12177686 10971048 1026294
Rivastigmine	--	123441-03-2	target	inhibitor	18671661 12636181 19470293 11139819 19370562 10673128 10713582 11752352 18044073 10587286 14587496 11078030
Tacrine	Tetrahydroaminacrine (see all 5)	321-64-2	target	inhibitor	10210906 12871155 10513568 10024872 17218977 15544504 15544507 11752352 10375753 16880719 16860785 10208549
Donepezil	--	120014-06-4	target	inhibitor	20193764 10513568 10641971 10024872 11893059 11752352 10466911 10368299 20522977
Ambenonium	--	7648-98-8	target	inhibitor	11330337 2857786 11752352 5833399 1588924 13679187 15982786
Edrophonium	EDR (see all 5)	116-38-1	target	inhibitor	10089512 10103097 11752352 10363282 19472276 10421446 10433700
Neostigmine	--	59-99-4	target	inhibitor	19257799 10826417 11752352 12522088 12726885 11819669 11313435
Gallamine Triethiodide	Benzcurine Iodide (see all 9)	65-29-2	target	inhibitor	1207670 17944454 10421444 417864 11920914 3190453
Isoflurophate	DFP (see all 4)	55-91-4	target	inhibitor	10898598 1692236 11752352 12837382 10378121 11350858
Physostigmine	Erserine (see all 4)	57-47-6	target	inhibitor	11141093 10873710 10741458 10403635 11752352 10368402

10/136 Novoseek chemical compound relationships for ACHE gene (see all 136) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
donepezil	93.8	464	18587286 (6), 11068139 (5), 19935404 (5), 12454562 (4) (see all 99)
galantamine	93.2	293	1954303 (6), 9839013 (3), 19969445 (3), 12635450 (3) (see all 99)
acetylthiocholine	92.9	110	10869180 (3), 9427520 (2), 11275256 (2), 18602908 (2) (see all 68)
rivastigmine	92.6	264	9737824 (8), 10587286 (5), 12454562 (4), 15275830 (4) (see all 99)
obidoxime	92.2	140	14985944 (4), 18588863 (3), 15498514 (3), 19429253 (3) (see all 73)
tacrine	91	286	1538717 (6), 2023867 (4), 1954303 (4), 8186246 (4) (see all 99)
pralidoxime	90.8	116	11180275 (4), 9587020 (3), 18254274 (2), 18676153 (2) (see all 71)
oxime	88.9	448	20028185 (7), 15498514 (6), 17900152 (6), 16904809 (5) (see all 99)
thiocholine	88.5	33	15987132 (2), 19238297 (2), 15826103 (1), 17499494 (1) (see all 22)
acetylcholine	88.3	981	2096961 (4), 9489729 (4), 10576601 (3), 1819171 (3) (see all 99)

Search CenterWatch for drugs/clinical trials and news about ACHE / ACES

(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 ACHE gene (2 alternative transcripts):

NM_000665.3 NM_015831.2

Unigene Cluster for ACHE:

Acetylcholinesterase

Hs.154495 [show with all ESTs]

Unigene Representative Sequence: NM_015831

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

ENST00000419336(uc003uxj.1) ENST00000241069 ENST00000428317(uc003uxi.3)

ENST00000412389(uc003uxd.3) ENST00000426415 ENST00000454485 ENST00000440755

ENST00000430554 ENST00000442452 ENST00000411582 ENST00000441605 ENST00000445236

ENST00000497647 ENST00000302913(uc003uxe.3 uc003uxf.3 uc003uxg.3 uc003uxh.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ACHE Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACHE
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate ACHE (see all 13):
		hsa-miR-4324 hsa-miR-3184 hsa-miR-125a-5p hsa-miR-3065-5p hsa-miR-423-5p hsa-miR-587 hsa-miR-124 hsa-miR-125b

		SwitchGear 3'UTR luciferase reporter plasmid: ACHE 3' UTR sequence

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 ACHE (see all 7) OriGene shRNA RFP: ACHE OriGene siRNA: ACHE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACHE

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACHE (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACHE (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ACHE (NM_015831)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACHE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACHE

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACHE Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACHE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACHE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACHE

Additional cDNA sequence:

AF334270.1 AK223443.1 AK291321.1 AY389977.1 BC026315.1 BC036813.1 BC094752.1 BC105060.1

BC105062.1 BC143469.1 M55040.1

11 DOTS entries:

DT.416657 DT.121041597 DT.100751908 DT.100751910 DT.101984170 DT.121041603 DT.75103919 DT.97776847

DT.121041601 DT.101984168 DT.101984171

24/134 AceView cDNA sequences (see all 134):

CD014075 CD014073 CD014072 BE551703 CK904419 BE466391 BI753192 BC036813

BM719818 AI360141 CD014074 CA394873 H38691 CD014076 BC001541 CD014071

BM023149 BQ225068 AI690171 BI488594 AY389977 BX390630 AW418501 H19954

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ACHE (see all 11) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b
SP1:			-		-																						-
SP2:					-										-		-		-								-
SP3:					-																						-
SP4:															-		-										-
SP5:																											-

ECgene alternative splicing isoforms for ACHE

(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

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

About this image

ACHE expression in embryonic tissues and stem cells

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

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Head Mesenchyme

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

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

SOURCE GeneReport for Unigene cluster: Hs.154495

UniProtKB/Swiss-Prot: ACES_HUMAN, P22303

Tissue specificity: Isoform H is highly expressed in erythrocytes

SABiosciences Expression via Pathway-Focused PCR Arrays including ACHE:

Neurogenesis in human mouse rat

Alzheimer's Disease in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACHE Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACHE

(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 ACHE gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACHE¹	acetylcholinesterase	64.18(n) 63.41(a)		396388 NM_205418.1 NP_990749.1
lizard (Anolis carolinensis)	Reptilia	--	--	24(a)	possible ortholog	GL344755.1(13434-20364)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8963²	Xenopus laevis transcribed sequence with weak similarity more	71.5(n)		CB563700.1
zebrafish (Danio rerio)	Actinopterygii	ache²	acetylcholinesterase	73.74(n)		114549 NM_131846.1
fruit fly (Drosophila melanogaster)	Insecta	alpha-Est8³	carboxylesterase	36(a) (best of 26)		3 84D9 --
worm (Caenorhabditis elegans)	Secernentea	R173.3³ ace-1¹	esterase³ Protein ACE-1¹	42(a) (best of 15)³ 47.89(n)¹ 43.3(a)¹		X(7065997-7071293)³ 181706¹ NM_078259.5¹ NP_510660.1¹

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

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

Paralogs for ACHE gene

NLGN1² CES2² CES4A² NLGN4X² NLGN4Y² CES3² NLGN3² NLGN2²

CES1² CEL² CES5A² BCHE²

15 SIMAP similar genes for ACHE using alignment to 11 protein entries: ACES_HUMAN (see all proteins):

BCHE CES1P1 CES4A CES3 TG CES5A

CES2 DKFZp686F02202 NLGN3 CES hBr2 CES8 CEL

CES1 NLGN4X NLGN2

ACHE 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)
About This Section

UniProtKB/Swiss-Prot: ACES_HUMAN, P22303

Polymorphism: ACHE is responsible for the Yt blood group system [MIM:112100]. The molecular basis of the

Yt(a)=Yt1/Yt(b)=Yt2 blood group antigens is a single variation in position 353; His-353 corresponds to Yt(a) and the

rare variant with Asn-353 to Yt(b)

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1799805^1,2	C,F,H,	non-pathogenic	99850402(-)	`ACTTCC/AACGGC`	4	/N /H	mis¹ ese³		18		MN NS EA NA EU	7462
rs2733918^1,2	C,H	--	99846740(+)	`CGGGAG/ACGGAT`	2	--	ds500¹		4		NS EA	420
rs2733919^1,2	H	--	99846745(+)	`ACGGAG/TGTCCC`	2	--	ds500¹		4		NS EA	420
rs17885823^1,2	C,F,	--	99846906(-)	`GGTGGC/TTGCCT`	2	--	ds500¹		2		NS	92
rs17880700^1,2	C,F,	--	99846922(-)	`TCGGTC/AGGTGC`	2	--	ds500¹		3		NS NA	92
rs2251631^1,2	A,	--	99846967(-)	`aggggA/Cggggc`	2	--	ds500¹		0	--	--	--	--
rs60031054^1,2	C	--	99846967(+)	`GCCCC-/GCCCCTCCCCT CCCCTCCCCTCCCCTCCCC`	2	--	ds500¹		1		NA	2
rs62482512^1,2		--	99846984(+)	`CCCTCC/TCCTCC`	2	--	ds500¹		0	--	--	--	--
rs2396755^1,2	C,F,H,	--	99847125(+)	`GCCTGT/CTTCTT`	2	--	ds500¹		18		NS EA NA CSA WA	2194
rs111902319^1,2	F,	--	99847130(+)	`TTTCTC/TGCCCT`	2	--	ds500¹		2		CSA	5

HapMap Linkage Disequilibrium report for ACHE (100487615 - 100494594 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ACHE
2 CNVs: 3692 82117
Human Gene Mutation Database (HGMD): ACHE

Locus Specific Mutation Databases (LSDB): ACHE
Blood Group Antigen Gene Mutation Database (BGMUT) blood group system

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for ACHE

(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.)
About This Section

ACHE for disorders           About GeneDecksing

OMIM gene information: 100740
OMIM disorders: 112100
20/146 diseases for ACHE (see all 146):    About MalaCards

endplate acetylcholinesterase deficiency intestinal pseudo-obstruction aplasia cutis congenita schwartz-jampel syndrome

glaucoma epidermolysis bullosa colonic pseudo-obstruction neural tube defect

rem sleep behavior disorder alzheimer's disease wernicke-korsakoff syndrome epidermolysis bullosa with pyloric atresia

junctional epidermolysis bullosa paroxysmal nocturnal hemoglobinuria supranuclear palsy abdominal wall defect

myasthenia gravis amyotrophic lateral sclerosis (als) lewy body dementia colonic aganglionosis

10/93 Novoseek disease relationships for ACHE gene (see all 93) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	89	829	1469405 (5), 17553629 (4), 9269216 (4), 12669110 (4) (see all 99)
acetylcholinesterase expression	83.2	30	17000130 (5), 17320203 (4), 12707285 (2), 1692114 (1) (see all 20)
endplate acetylcholinesterase deficiency	81.6	14	12609505 (3), 16009904 (1), 18647752 (1), 18374322 (1) (see all 9)
myasthenic syndromes congenital	79.3	22	12609505 (2), 9758617 (2), 15248101 (1), 16009904 (1) (see all 13)
hirschsprung disease	78.5	96	11528605 (4), 14680278 (3), 8747488 (3), 11719866 (3) (see all 46)
poisoning	76.8	185	15065394 (4), 10477195 (3), 16601804 (2), 18281016 (2) (see all 93)
dementia	76.1	180	1469405 (4), 9351648 (4), 8951800 (3), 14676050 (3) (see all 99)
senile plaques	69.6	93	1703383 (3), 9282941 (3), 9062656 (3), 1717194 (2) (see all 46)
dementia vascular	64.5	18	17215726 (2), 15224429 (1), 18174021 (1), 20110698 (1) (see all 15)
intoxication	63.5	75	16601804 (2), 18045198 (2), 17194020 (2), 20028185 (2) (see all 48)

Genetic Association Database (GAD): ACHE
Human Genome Epidemiology (HuGE) Navigator: ACHE (32 documents)

Export disorders for ACHE 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)
About This Section

PubMed articles for ACHE gene, integrated from 9 sources (see all 2369):
(articles sorted by number of sources associating them with ACHE)

Utopia: connect your pdf to the dynamic
world of online information

Mutagenesis of human acetylcholinesterase. Identification of residues involved in catalytic activity and in polypeptide folding. (PubMed id 1517212)^{1, 2, 9} Shafferman A.... Barak D. (1992)
Expression of three alternative acetylcholinesterase messenger RNAs in human tumor cell lines of different tissue origins. (PubMed id 8299725)^{1, 2, 9} Karpel R.... Soreq H. (1994)
Inherited and acquired interactions between ACHE and PON1 polymorphisms modulate plasma acetylcholinesterase and paraoxonase activities. (PubMed id 15715671)^{1, 4, 9} Bryk B....Soreq H. (2005)
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)
Structures of recombinant native and E202Q mutant human acetylcholinesterase complexed with the snake-venom toxin fasciculin- II. (PubMed id 11053835)^{1, 2, 9} Kryger G....Sussman J.L. (2000)
Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations. (PubMed id 15974920)^{1, 4, 9} Hasin Y....Sussman J.L. (2005)
The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix. (PubMed id 15526038)^{1, 2} Dvir H.... Silman I. (2004)
Acetylcholinesterase/paraoxonase genotype and expression predict anxiety scores in Health, Risk Factors, Exercise Training, and Genetics study. (PubMed id 15060281)^{1, 4} Sklan E.H....Soreq H. (2004)
A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene. (PubMed id 15459952)^{1, 4} Hasin Y....Sussman J.L. (2004)
Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1. (PubMed id 12928915)^{1, 4} Clarimon J....Comas D. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 43	HGNC: 108	AceView: ACHE	Ensembl:ENSG00000087085	euGenes: HUgn43
ECgene: ACHE	Kegg: 43	H-InvDB: ACHE

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for ACHE	Pharmacogenomics, SNPs, Pathways
dbRBC/BGMUT	http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=yt
Wikipedia	http://en.wikipedia.org/wiki/Acetylcholinesterase
SeattleSNPs	http://pga.gs.washington.edu/data/ache/

Intellectual Property for ACHE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACHE gene:
Search GeneIP for patents involving ACHE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

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