Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ACHE Gene

Aliases for ACHE Gene

  • Acetylcholinesterase (Cartwright Blood Group) 2 3
  • Acetylcholinesterase (YT Blood Group) 2 3
  • Yt Blood Group 2 3
  • EC 3.1.1.7 4 63
  • Apoptosis-Related Acetylcholinesterase 3
  • Acetylcholinesterase (Yt Blood Group) 5
  • EC 3.1.1 63
  • ARACHE 3
  • N-ACHE 3
  • ACEE 3
  • AChE 4
  • YT 3

External Ids for ACHE Gene

Previous HGNC Symbols for ACHE Gene

  • YT

Previous GeneCards Identifiers for ACHE Gene

  • GC07M099022
  • GC07M100085
  • GC07M100099
  • GC07M100132
  • GC07M100325
  • GC07M100487
  • GC07M095117

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 (Cartwright Blood Group)) is a Protein Coding gene. Diseases associated with ACHE include Colonic Pseudo-Obstruction and Primary Orthostatic Hypotension. Among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Integrated Pancreatic Cancer Pathway. 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.

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

Regulatory Elements for ACHE Gene

Enhancers for ACHE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACHE on UCSC Golden Path with GeneCards custom track

Promoters for ACHE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACHE on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ACHE Gene

Chromosome:
7
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

Genes around ACHE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACHE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACHE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACHE Gene

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

  • Glycosylation at Asn 296, Asn 381, and Asn 495
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACHE (Acetylcholinesterase/ACHE)

Domains & Families for ACHE Gene

Gene Families for ACHE Gene

Graphical View of Domain Structure for InterPro Entry

P22303

UniProtKB/Swiss-Prot:

ACES_HUMAN :
  • Belongs to the type-B carboxylesterase/lipase family.
Family:
  • Belongs to the type-B carboxylesterase/lipase family.
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:0004104 cholinesterase activity IDA 1517212
GO:0016787 hydrolase activity IDA 1517212
GO:0017171 serine hydrolase activity IDA 3954986
GO:0043236 laminin binding IEA,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:

Animal Model Products

miRNA for ACHE Gene

miRTarBase miRNAs that target ACHE

No data available for Human Phenotype Ontology , Transcription Factor Targets 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:0016020 membrane IDA 16262697
GO:0031594 neuromuscular junction IEA,IBA --
GO:0043083 synaptic cleft NAS 1517212
GO:0045202 synapse IEA,IDA 8460160
genes like me logo Genes that share ontologies with ACHE: view

No data available for Subcellular locations from COMPARTMENTS for ACHE Gene

Pathways & Interactions 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:0001919 regulation of receptor recycling IEA --
GO:0006581 acetylcholine catabolic process IEA,IDA 1517212
GO:0007268 synaptic transmission TAS --
GO:0007399 nervous system development TAS 11283752
GO:0007416 synapse assembly TAS 11283752
genes like me logo Genes that share ontologies with ACHE: view

No data available for SIGNOR curated interactions for ACHE Gene

Drugs & Compounds for ACHE Gene

(104) Drugs for ACHE Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ambenonium Approved Pharma inhibitor, Target 0
Donepezil Approved Pharma inhibitor, Target 273
Edrophonium Approved Pharma inhibitor, Target 1
Galantamine Approved Pharma inhibitor, Target 103
Neostigmine Approved Pharma inhibitor, Target 88

(90) Additional Compounds for ACHE Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-O-Desmethyldonepezil
l-fucose
  • (-)-Fucose
  • (-)-L-Fucose
  • 6-Deoxy-beta-galactose
  • 6-Deoxy-D-galactopyranose
  • 6-Deoxy-delta-galactopyranose
2438-80-4
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Ambenonium dichloride
115-79-7
Galanthamine hydrobromide
1953-04-4

(5) Tocris Compounds for ACHE Gene

Compound Action Cas Number
Ambenonium dichloride Cholinesterase inhibitor 115-79-7
Galanthamine hydrobromide Cholinesterase inhibitor 1953-04-4
Phenserine Cholinesterase inhibitor 101246-66-6
Physostigmine hemisulfate Cholinesterase inhibitor 64-47-1
Tacrine hydrochloride Cholinesterase inhibitor 1684-40-8

(2) ApexBio Compounds for ACHE Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
Pyridostigmine Bromide 101-26-8
genes like me logo Genes that share compounds with ACHE: view

Drug Products

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 differential expression in normal tissues according to GTEx for ACHE Gene

This gene is overexpressed in Brain - Hypothalamus (x8.4), Muscle - Skeletal (x4.3), and Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for ACHE Gene

This gene is overexpressed in Plasma (25.5), Retina (21.3), Vitreous humor (10.7), and Heart (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB 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 expression patterns with ACHE: view

Protein tissue co-expression partners for ACHE Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ACHE Gene

Orthologs for ACHE Gene

This gene was present in the common ancestor of animals.

Orthologs for ACHE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACHE 35
  • 89.72 (n)
  • 93.15 (a)
ACHE 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACHE 35
  • 89.63 (n)
  • 93.13 (a)
ACHE 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ache 35
  • 84.91 (n)
  • 88.44 (a)
Ache 16
Ache 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACHE 35
  • 99.78 (n)
  • 100 (a)
ACHE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ache 35
  • 84.69 (n)
  • 88.6 (a)
oppossum
(Monodelphis domestica)
Mammalia ACHE 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACHE 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACHE 35
  • 64.66 (n)
  • 64.2 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 36 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 36 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490673 35
  • 63.67 (n)
  • 63.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8963 35
zebrafish
(Danio rerio)
Actinopterygii ache 35
  • 64.04 (n)
  • 64.34 (a)
ache 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ace 37
  • 35 (a)
alpha-Est1 37
  • 31 (a)
alpha-Est10 37
  • 30 (a)
alpha-Est2 37
  • 29 (a)
alpha-Est3 37
  • 28 (a)
alpha-Est4 37
  • 29 (a)
alpha-Est5 37
  • 29 (a)
alpha-Est6 37
  • 29 (a)
alpha-Est7 37
  • 31 (a)
alpha-Est8 37
  • 36 (a)
alpha-Est9 37
  • 29 (a)
BcDNA:GH05741 37
  • 32 (a)
CG10175 37
  • 30 (a)
CG10339 37
  • 28 (a)
CG3841 37
  • 35 (a)
CG4382 37
  • 31 (a)
CG5397 37
  • 26 (a)
CG6018 37
  • 31 (a)
CG6414 37
  • 32 (a)
CG7529 37
  • 30 (a)
CG8424 37
  • 29 (a)
clt 37
  • 32 (a)
Est-6 37
  • 35 (a)
Est-P 37
  • 35 (a)
Gli 37
  • 31 (a)
Jhe 37
  • 36 (a)
Ace 36
  • 33 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ACES_ANOGA 35
  • 56.23 (n)
  • 48.52 (a)
worm
(Caenorhabditis elegans)
Secernentea ace-1 37
  • 41 (a)
ace-2 37
  • 37 (a)
ace-3 37
  • 36 (a)
ace-4 37
  • 36 (a)
B0238.1 37
  • 30 (a)
B0238.13 37
  • 34 (a)
F13H6.3 37
  • 30 (a)
F55D10.3 37
  • 28 (a)
K11G9.1 37
  • 29 (a)
R173.3 37
  • 42 (a)
T02B5.1 37
  • 25 (a)
T02B5.3 37
  • 27 (a)
T07H6.1a 37
  • 37 (a)
T28C12.4a 37
  • 26 (a)
T28C12.4b 37
  • 26 (a)
ace-1 35
  • 47.89 (n)
  • 43.3 (a)
ace-1 36
  • 38 (a)
ManyToMany
ace-2 36
  • 31 (a)
ManyToMany
ace-3 36
  • 31 (a)
ManyToMany
ace-4 36
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

ACES_HUMAN-P22303
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
rs1799805 - 100,893,176(-) ACTTC(A/C)ACGGC nc-transcript-variant, reference, missense
rs8286 - 100,893,235(-) GCCTG(A/T)GGTAG nc-transcript-variant, reference, missense
rs17881553 - 100,894,132(-) GGGCC(A/G)GGAGG nc-transcript-variant, reference, missense
rs17885778 - 100,893,830(-) GGACA(C/G)CATAC nc-transcript-variant, reference, missense
rs1056867 -- 100,893,929(-) GCTAC(C/T)AATAT nc-transcript-variant, reference, stop-gained

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

Variation tolerance for ACHE Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.64; 89.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACHE Gene

Human Gene Mutation Database (HGMD)
ACHE
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for ACHE Gene

MalaCards: The human disease database

(20) MalaCards diseases for ACHE Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
colonic pseudo-obstruction
  • primary chronic pseudo-obstruction of colon
primary orthostatic hypotension
  • neurogenic orthostatic hypotension
myasthenic syndrome, congenital, 5
  • endplate acetylcholinesterase deficiency
cholinergic urticaria
agraphia
- elite association - COSMIC cancer census association via MalaCards
Search ACHE in MalaCards View complete list of genes associated with diseases

Relevant External Links for ACHE

Genetic Association Database (GAD)
ACHE
Human Genome Epidemiology (HuGE) Navigator
ACHE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACHE
genes like me logo Genes that share disorders with ACHE: view

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

Publications for ACHE Gene

  1. 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 67
  2. Acetylcholinesterase inhibitors and memantine for neuroenhancement in healthy individuals: a systematic review. (PMID: 20193764) Repantis D. … Heuser I. (Pharmacol. Res. 2010) 23 25 26
  3. Donepezil, a potent acetylcholinesterase inhibitor, induces caspase-dependent apoptosis in human promyelocytic leukemia HL-60 cells. (PMID: 20522977) Ki Y.S. … Lee K.T. (Biol. Pharm. Bull. 2010) 23 25 26
  4. Screening of acetylcholinesterase inhibitors by CE after enzymatic reaction at capillary inlet. (PMID: 19472276) MartA-n-Biosca Y. … Medina-HernA!ndez M.J. (J Sep Sci 2009) 23 25 26
  5. Pyridinium oximes as cholinesterase reactivators. Structure-activity relationship and efficacy in the treatment of poisoning with organophosphorus compounds. (PMID: 19519385) JokanoviA8 M. … Prostran M. (Curr. Med. Chem. 2009) 23 25 26

Products for ACHE Gene

Sources for ACHE Gene

Content