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Aliases for ACHE Gene

Aliases for ACHE Gene

  • Acetylcholinesterase (Yt Blood Group) 2 3
  • Acetylcholinesterase 2 3
  • Yt Blood Group 2 3
  • EC 3.1.1.7 4 64
  • YT 3 6
  • Apoptosis-Related Acetylcholinesterase 3
  • EC 3.1.1 64
  • ARACHE 3
  • N-ACHE 3
  • ACEE 3
  • AChE 4

External Ids for ACHE Gene

Previous Symbols for ACHE Gene

  • YT

Summaries for ACHE Gene

Entrez Gene Summary for ACHE Gene

  • 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]

GeneCards Summary for ACHE Gene

ACHE (Acetylcholinesterase (Yt Blood Group)) is a Protein Coding gene. Diseases associated with ACHE include colonic pseudo-obstruction and gastroschisis. Among its related pathways are Integrated Pancreatic Cancer Pathway and Metabolism. GO annotations related to this gene include protein homodimerization activity and collagen binding. An important paralog of this gene is CES2.

UniProtKB/Swiss-Prot for ACHE Gene

  • Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis.

Tocris Summary for ACHE Gene

  • 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 Alzheimers disease.

Gene Wiki entry for ACHE Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACHE Gene

Genomics for ACHE Gene

Genomic Location for ACHE Gene

Start:
100,889,994 bp from pter
End:
100,896,974 bp from pter
Size:
6,981 bases
Orientation:
Minus strand

Genomic View for ACHE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACHE Gene

Regulatory Elements for ACHE Gene

Transcription factor binding sites by QIAGEN in the ACHE gene promoter:

Proteins for ACHE Gene

  • Protein details for ACHE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22303-ACES_HUMAN
    Recommended name:
    Acetylcholinesterase
    Protein Accession:
    P22303
    Secondary Accessions:
    • A4D2E2
    • B7ZKZ0
    • D6W5X7
    • Q16169
    • Q29S23
    • Q2M324
    • Q504V3
    • Q53F46
    • Q86TM9
    • Q86YX9
    • Q9BXP7

    Protein attributes for ACHE Gene

    Size:
    614 amino acids
    Molecular mass:
    67796 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ACHE Gene

    Alternative splice isoforms for ACHE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACHE Gene

Proteomics data for ACHE Gene at MOPED

Post-translational modifications for ACHE Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn296, Asn381, and Asn495

Domains for ACHE Gene

Gene Families for ACHE Gene

HGNC:

UniProtKB/Swiss-Prot:

ACES_HUMAN
Family:
  • Belongs to the type-B carboxylesterase/lipase family.:
    • P22303
genes like me logo Genes that share domains with ACHE: view

Function for ACHE Gene

Molecular function for ACHE Gene

GENATLAS Biochemistry: acetylcholinesterase
UniProtKB/Swiss-Prot CatalyticActivity: Acetylcholine + H(2)O = choline + acetate
UniProtKB/Swiss-Prot Function: Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis.

Enzyme Numbers (IUBMB) for ACHE Gene

Gene Ontology (GO) - Molecular Function for ACHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding TAS 11283752
GO:0003990 acetylcholinesterase activity IMP 1517212
GO:0004104 cholinesterase activity IDA 1517212
GO:0005515 protein binding IPI 10800960
GO:0005518 collagen binding IDA 12524166
genes like me logo Genes that share ontologies with ACHE: view
genes like me logo Genes that share phenotypes with ACHE: view

Animal Models for ACHE Gene

MGI Knock Outs for ACHE:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ACHE Gene

Localization for ACHE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACHE Gene

Cell junction, synapse. Secreted. Cell membrane; Peripheral membrane protein.
Isoform T: Nucleus. Note=Only observed in apoptotic nuclei.
Isoform H: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.

Gene Ontology (GO) - Cellular Components for ACHE Gene

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 --
genes like me logo Genes that share ontologies with ACHE: view

Pathways for ACHE Gene

genes like me logo Genes that share pathways with ACHE: view

Gene Ontology (GO) - Biological Process for ACHE Gene

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
genes like me logo Genes that share ontologies with ACHE: view

Compounds for ACHE Gene

(5) Tocris Compounds for ACHE Gene

Compound Action Cas Number
Acephate Anticholinesterase insecticide [30560-19-1]
Donepezil hydrochloride Potent AChE inhibitor [120011-70-3]
Galanthamine hydrobromide Cholinesterase inhibitor [1953-04-4]
Phenserine Cholinesterase inhibitor [101246-66-6]
Rivastigmine tartrate Dual AChE and BChE inhibitor [129101-54-8]

(5) HMDB Compounds for ACHE Gene

Compound Synonyms Cas Number PubMed IDs
Acetic acid
  • Acetate
64-19-7
Acetylcholine
  • ACh
51-84-3
Choline
  • (2-Hydroxyethyl)trimethyl ammonium
62-49-7
Donepezil
  • Aricept
120014-06-4
Water
  • Dihydrogen oxide
7732-18-5

(136) Novoseek inferred chemical compound relationships for ACHE Gene

Compound -log(P) Hits PubMed IDs
donepezil 93.8 179
galantamine 93.2 147
acetylthiocholine 92.9 75
rivastigmine 92.6 137
obidoxime 92.2 102
genes like me logo Genes that share compounds with ACHE: view

Transcripts for ACHE Gene

Unigene Clusters for ACHE Gene

Acetylcholinesterase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ACHE Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - -
SP2: - - - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - - -
SP7: - - - - - -
SP8: - - - - -
SP9: -
SP10: - - - - - - -
SP11:

Relevant External Links for ACHE Gene

GeneLoc Exon Structure for
ACHE
ECgene alternative splicing isoforms for
ACHE

Expression for ACHE Gene

mRNA expression in normal human tissues for ACHE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACHE Gene

This gene is overexpressed in Brain - Hypothalamus (8.4), Muscle - Skeletal (4.3), and Brain - Cerebellum (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ACHE Gene

SOURCE GeneReport for Unigene cluster for ACHE Gene Hs.154495

mRNA Expression by UniProt/SwissProt for ACHE Gene

P22303-ACES_HUMAN
Tissue specificity: Isoform H is highly expressed in erythrocytes.
genes like me logo Genes that share expressions with ACHE: view

Orthologs for ACHE Gene

This gene was present in the common ancestor of animals.

Orthologs for ACHE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACHE 36
  • 99.78 (n)
  • 100 (a)
ACHE 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACHE 36
  • 89.72 (n)
  • 93.15 (a)
ACHE 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACHE 36
  • 89.63 (n)
  • 93.13 (a)
ACHE 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ache 36
  • 84.91 (n)
  • 88.44 (a)
Ache 16
Ache 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACHE 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACHE 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ache 36
  • 84.69 (n)
  • 88.6 (a)
chicken
(Gallus gallus)
Aves ACHE 36
  • 64.66 (n)
  • 64.2 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 40 (a)
ManyToMany
-- 37
  • 40 (a)
ManyToMany
-- 37
  • 36 (a)
ManyToMany
-- 37
  • 37 (a)
ManyToMany
-- 37
  • 40 (a)
ManyToMany
-- 37
  • 39 (a)
ManyToMany
-- 37
  • 39 (a)
ManyToMany
-- 37
  • 41 (a)
ManyToMany
-- 37
  • 41 (a)
ManyToMany
-- 37
  • 36 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.8963 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490673 36
  • 63.67 (n)
  • 63.21 (a)
zebrafish
(Danio rerio)
Actinopterygii ache 36
  • 64.04 (n)
  • 64.34 (a)
ache 37
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ACES_ANOGA 36
  • 56.23 (n)
  • 48.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ace 37
  • 33 (a)
OneToMany
CG7529 38
  • 30 (a)
alpha-Est2 38
  • 29 (a)
alpha-Est5 38
  • 29 (a)
Est-6 38
  • 35 (a)
CG6414 38
  • 32 (a)
alpha-Est8 38
  • 36 (a)
alpha-Est1 38
  • 31 (a)
CG6018 38
  • 31 (a)
CG3841 38
  • 35 (a)
CG4382 38
  • 31 (a)
alpha-Est6 38
  • 29 (a)
alpha-Est3 38
  • 28 (a)
CG8424 38
  • 29 (a)
CG5397 38
  • 26 (a)
CG10175 38
  • 30 (a)
Ace 38
  • 35 (a)
BcDNA:GH05741 38
  • 32 (a)
Est-P 38
  • 35 (a)
CG10339 38
  • 28 (a)
Gli 38
  • 31 (a)
Jhe 38
  • 36 (a)
alpha-Est10 38
  • 30 (a)
alpha-Est4 38
  • 29 (a)
alpha-Est9 38
  • 29 (a)
clt 38
  • 32 (a)
alpha-Est7 38
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea ace-1 36
  • 47.89 (n)
  • 43.3 (a)
ace-1 37
  • 38 (a)
ManyToMany
ace-2 37
  • 31 (a)
ManyToMany
ace-3 37
  • 31 (a)
ManyToMany
ace-4 37
  • 33 (a)
ManyToMany
F55D10.3 38
  • 28 (a)
K11G9.1 38
  • 29 (a)
ace-4 38
  • 36 (a)
T02B5.3 38
  • 27 (a)
B0238.13 38
  • 34 (a)
T28C12.4a 38
  • 26 (a)
ace-3 38
  • 36 (a)
R173.3 38
  • 42 (a)
ace-1 38
  • 41 (a)
B0238.1 38
  • 30 (a)
ace-2 38
  • 37 (a)
T28C12.4b 38
  • 26 (a)
T02B5.1 38
  • 25 (a)
T07H6.1a 38
  • 37 (a)
F13H6.3 38
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
OneToMany
Species with no ortholog for ACHE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACHE Gene

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

Paralogs for ACHE Gene

Paralogs for ACHE Gene

genes like me logo Genes that share paralogs with ACHE: view

Variants for ACHE Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ACHE Gene

P22303-ACES_HUMAN
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)

Sequence variations from dbSNP and Humsavar for ACHE Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs7636 -- 100,892,456(-) GTGCC(C/T)CACGG reference, synonymous-codon
rs8286 - 100,893,235(-) GCCTG(A/T)GGTAG missense, reference
rs1056867 -- 100,893,929(-) GCTAC(C/T)AATAT reference, stop-gained
rs2571598 -- 100,892,018(+) CCTGG(C/T)CTCAG intron-variant
rs2571599 -- 100,894,506(+) ACCCT(C/T)TCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACHE Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
dgv2119e1 CNV Complex 17122850
dgv7403n71 CNV Loss 21882294
nsv831073 CNV Loss 17160897
dgv7404n71 CNV Loss 21882294
dgv7405n71 CNV Loss 21882294
nsv482110 CNV Gain 20164927
dgv7406n71 CNV Loss 21882294
dgv7407n71 CNV Loss 21882294
dgv7408n71 CNV Loss 21882294

Relevant External Links for ACHE Gene

HapMap Linkage Disequilibrium report
ACHE
Human Gene Mutation Database (HGMD)
ACHE
Locus Specific Mutation Databases (LSDB)
ACHE
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for ACHE Gene

(1) OMIM Diseases for ACHE Gene (100740)

(93) Novoseek inferred disease relationships for ACHE Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 89 199
acetylcholinesterase expression 83.2 28
endplate acetylcholinesterase deficiency 81.6 11
myasthenic syndromes congenital 79.3 15
hirschsprung disease 78.5 68

Relevant External Links for ACHE

Genetic Association Database (GAD)
ACHE
Human Genome Epidemiology (HuGE) Navigator
ACHE
genes like me logo Genes that share disorders with ACHE: view

No data available for UniProtKB/Swiss-Prot for ACHE Gene

Publications for ACHE Gene

  1. Expression of three alternative acetylcholinesterase messenger RNAs in human tumor cell lines of different tissue origins. (PMID: 8299725) Karpel R. … Soreq H. (Exp. Cell Res. 1994) 3 4 23
  2. Structures of recombinant native and E202Q mutant human acetylcholinesterase complexed with the snake-venom toxin fasciculin- II. (PMID: 11053835) Kryger G. … Sussman J.L. (Acta Crystallogr. D 2000) 3 4 23
  3. Mutagenesis of human acetylcholinesterase. Identification of residues involved in catalytic activity and in polypeptide folding. (PMID: 1517212) Shafferman A. … Barak D. (J. Biol. Chem. 1992) 3 4 23
  4. Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations. (PMID: 15974920) Hasin Y. … Sussman J.L. (Curr Alzheimer Res 2005) 3 23 49
  5. Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine. (PMID: 18780301) Scacchi R. … Corbo R.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23 49

Products for ACHE Gene

Sources for ACHE Gene

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