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... See more...

Aliases for ACHE Gene

Aliases for ACHE Gene

  • Acetylcholinesterase (Cartwright Blood Group) 2 3 5
  • Acetylcholinesterase (Yt Blood Group) 2 3
  • Acetylcholinesterase 3 4
  • Yt Blood Group 2 3
  • EC 3.1.1.7 4 50
  • Apoptosis-Related Acetylcholinesterase 3
  • Acetylcholinesterase (YT Blood Group) 2
  • EC 3.1.1 50
  • ARACHE 3
  • N-ACHE 3
  • ACEE 3
  • ACHE 5
  • 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. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]

GeneCards Summary for ACHE Gene

ACHE (Acetylcholinesterase (Cartwright Blood Group)) is a Protein Coding gene. Diseases associated with ACHE include Yt Blood Group Antigen and Colonic Pseudo-Obstruction. Among its related pathways are Melatonin metabolism and effects and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and collagen binding. An important paralog of this gene is BCHE.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACHE Gene

Genomics for ACHE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACHE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACHE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACHE

Top Transcription factor binding sites by QIAGEN in the ACHE gene promoter:
  • Egr-1
  • Sp1
  • TBP

Genomic Locations for ACHE Gene

Latest Assembly
chr7:100,889,994-100,896,994
(GRCh38/hg38)
Size:
7,001 bases
Orientation:
Minus strand

Previous Assembly
chr7:100,487,615-100,494,614
(GRCh37/hg19 by Entrez Gene)
Size:
7,000 bases
Orientation:
Minus strand

chr7:100,487,615-100,494,594
(GRCh37/hg19 by Ensembl)
Size:
6,980 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

Selected DME Specific Peptides for ACHE Gene

P22303:
  • AFGFLAL
  • GPRRFLPPEPK
  • GGGFYSG
  • LVGCPPGG
  • EFHRWSSYM
  • LSEDCLYLNVW
  • FLGIPFA
  • FARTGDPN
  • HGYEIEF
  • PLEVRRGLRAQ
  • QFDHYSKQ
  • SLDVYDGR
  • VGDHNVVCP
  • PQWPPYT
  • GEARRRAT
  • LALQWVQ
  • PNGPWAT
  • VSMNYRVG
  • FGESAGA
  • WIYGGGF
  • YGAPGFSKD
  • FLAGVRVGVPQ
  • LAAEAVVLHYTDWL
  • GFLALPG
  • FRFSFVPV
  • YWANFARTG
  • CYQYVDT

Post-translational modifications for ACHE Gene

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

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for ACHE

Domains & Families for ACHE Gene

Gene Families for ACHE Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ACHE Gene

Suggested Antigen Peptide Sequences for ACHE Gene

GenScript: Design optimal peptide antigens:
  • Acetylcholinesterase (ACES_HUMAN)
  • Acetylcholinesterase (Yt blood group), isoform CRA_a (D6W5X8_HUMAN)
  • Acetylcholinesterase (Q13697_HUMAN)
  • N-terminal extended acetylcholinesterase (Q6TQD3_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetylcholine + H2O = acetate + choline + H(+); Xref=Rhea:RHEA:17561, ChEBI:CHEBI:15354, ChEBI:CHEBI:15355, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089; EC=3.1.1.7;.
GENATLAS Biochemistry:
acetylcholinesterase

Enzyme Numbers (IUBMB) for ACHE Gene

Phenotypes From GWAS Catalog for ACHE Gene

Gene Ontology (GO) - Molecular Function for ACHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 11283752
GO:0003990 acetylcholinesterase activity IDA,IMP 1517212
GO:0004104 cholinesterase activity IEA,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:
  • Ache Ache<tm1.1Hssh>
  • Ache Ache<tm1Loc>

miRNA for ACHE Gene

miRTarBase miRNAs that target ACHE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACHE gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
golgi apparatus 4
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS 11283752
GO:0005604 basement membrane NAS 16289501
GO:0005615 extracellular space IBA 21873635
GO:0005634 nucleus IEA --
GO:0005794 Golgi apparatus IDA 15454088
genes like me logo Genes that share ontologies with ACHE: view

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:0001507 acetylcholine catabolic process in synaptic cleft NAS 1517212
GO:0001919 regulation of receptor recycling IEA --
GO:0002076 osteoblast development IEP 15454088
GO:0006581 acetylcholine catabolic process IDA 1517212
GO:0006656 phosphatidylcholine biosynthetic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rivastigmine Approved, Investigational Pharma Target, inhibitor Cholinesterase inhibitor 94
Ambenonium Approved Pharma Target, inhibitor 0
Donepezil Approved Pharma Target, inhibitor 327
Edrophonium Approved Pharma Target, inhibitor 2
Galantamine Approved Pharma Target, inhibitor Acetylcholinesterase inhibitor 109

(71) Additional Compounds for ACHE Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-O-Desmethyldonepezil
l-fucose
  • 6-Deoxy-L-galactose
  • (-)-Fucose
  • (-)-L-Fucose
  • 6-Deoxy-L-galactopyranose
  • 6-Desoxygalactose
87-96-7

(4) Tocris Compounds for ACHE Gene

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

(16) ApexBio Compounds for ACHE Gene

Compound Action Cas Number
(-)-Huperzine A NMDA receptor antagonist/AChE inhibitor 102518-79-6
(±)-Huperzine A 120786-18-7
Acephate 30560-19-1
Ambenonium dichloride 115-79-7
Cryptotanshinone STAT3/AChE inhibitor 35825-57-1
Donepezil HCl AChE inhibitor 120011-70-3
Galanthamine HBr Acetylcholinesterase inhibitor 1953-04-4
GSK 264220A 685506-42-7
JW 642 1416133-89-5
KML 29 1380424-42-9
Neostigmine Bromide Cholinesterase inhibitor 114-80-7
PE 154 1192750-33-6
Physostigmine hemisulfate 64-47-1
Pristimerin 1258-84-0
Pyridostigmine Bromide 101-26-8
Tacrine hydrochloride 1684-40-8
genes like me logo Genes that share compounds with ACHE: view

Transcripts for ACHE Gene

mRNA/cDNA for ACHE Gene

9 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACHE

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

Expression for ACHE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ACHE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACHE

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.

Evidence on tissue expression from TISSUES for ACHE Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Muscle(3.8)
  • Liver(2.7)
  • Adrenal gland(2.7)
  • Intestine(2.7)
  • Kidney(2.6)
  • Skin(2.5)
  • Stomach(2.4)
  • Heart(2.4)
  • Spleen(2.3)
  • Thyroid gland(2.3)
  • Lung(2.2)
  • Pancreas(2.2)
  • Eye(2.2)
  • Bone marrow(2.1)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with ACHE: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia ACHE 29 30
  • 99.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACHE 29 30
  • 89.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACHE 29 30
  • 89.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ache 29 16 30
  • 84.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ache 29
  • 84.69 (n)
Oppossum
(Monodelphis domestica)
Mammalia ACHE 30
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACHE 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACHE 29
  • 64.66 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 41 (a)
ManyToMany
-- 30
  • 41 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 40 (a)
ManyToMany
-- 30
  • 39 (a)
ManyToMany
-- 30
  • 39 (a)
ManyToMany
-- 30
  • 37 (a)
ManyToMany
-- 30
  • 36 (a)
ManyToMany
-- 30
  • 36 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490673 29
  • 63.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8963 29
Zebrafish
(Danio rerio)
Actinopterygii ache 29 30
  • 64.04 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ACES_ANOGA 29
  • 56.23 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta alpha-Est8 31
  • 36 (a)
Jhe 31
  • 36 (a)
CG3841 31
  • 35 (a)
Est-6 31
  • 35 (a)
Est-P 31
  • 35 (a)
Ace 30 31
  • 33 (a)
OneToMany
BcDNA:GH05741 31
  • 32 (a)
CG6414 31
  • 32 (a)
clt 31
  • 32 (a)
CG4382 31
  • 31 (a)
CG6018 31
  • 31 (a)
alpha-Est1 31
  • 31 (a)
alpha-Est7 31
  • 31 (a)
Gli 31
  • 31 (a)
CG10175 31
  • 30 (a)
CG7529 31
  • 30 (a)
alpha-Est10 31
  • 30 (a)
CG8424 31
  • 29 (a)
alpha-Est2 31
  • 29 (a)
alpha-Est4 31
  • 29 (a)
alpha-Est5 31
  • 29 (a)
alpha-Est6 31
  • 29 (a)
alpha-Est9 31
  • 29 (a)
CG10339 31
  • 28 (a)
alpha-Est3 31
  • 28 (a)
CG5397 31
  • 26 (a)
Worm
(Caenorhabditis elegans)
Secernentea ace-1 29 30 31
  • 47.89 (n)
ManyToMany
R173.3 31
  • 42 (a)
T07H6.1a 31
  • 37 (a)
B0238.13 31
  • 34 (a)
ace-4 30 31
  • 33 (a)
ManyToMany
ace-3 30 31
  • 31 (a)
ManyToMany
ace-2 30 31
  • 31 (a)
ManyToMany
B0238.1 31
  • 30 (a)
F13H6.3 31
  • 30 (a)
K11G9.1 31
  • 29 (a)
F55D10.3 31
  • 28 (a)
T02B5.3 31
  • 27 (a)
T28C12.4a 31
  • 26 (a)
T28C12.4b 31
  • 26 (a)
T02B5.1 31
  • 25 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 30 (a)
OneToMany
Species where no ortholog for ACHE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ACHE: view image
Alliance of Genome Resources:
Additional Orthologs for ACHE

Paralogs for ACHE Gene

Paralogs for ACHE Gene

(15) SIMAP similar genes for ACHE Gene using alignment to 11 proteins:

  • ACES_HUMAN
  • C9J2S3_HUMAN
  • C9JD78_HUMAN
  • C9JUK5_HUMAN
  • C9JZL6_HUMAN
  • D6W5X8_HUMAN
  • F8WAR7_HUMAN
  • F8WD34_HUMAN
  • F8WD68_HUMAN
  • Q13697_HUMAN
  • Q6TQD3_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACHE Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs114367422 Benign: not provided 100,893,967(-) C/T
NM_000665.5(ACHE):c.266G>A (p.Gly89Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs144995873 Likely Benign: not provided 100,893,189(-) G/A
NM_000665.5(ACHE):c.1044C>T (p.Asn348=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs151107784 Likely Benign: not provided 100,892,453(-) G/A
NM_000665.5(ACHE):c.1434C>T (p.His478=)
SYNONYMOUS
rs1584774926 Likely Benign: not provided 100,893,387(-) C/G
NM_000665.5(ACHE):c.846G>C (p.Leu282=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs17228581 Benign: not provided 100,893,426(-) C/T
NM_000665.5(ACHE):c.807G>A (p.Thr269=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACHE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
nsv1020837 CNV loss 25217958
nsv1137273 CNV deletion 24896259
nsv482110 CNV gain 20164927
nsv607965 CNV loss 21841781
nsv607966 CNV loss 21841781
nsv607967 CNV loss 21841781
nsv607968 CNV loss 21841781
nsv607969 CNV loss 21841781
nsv607970 CNV loss 21841781
nsv831073 CNV loss 17160897

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)

Additional Variant Information for ACHE Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
ACHE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACHE
Leiden Open Variation Database (LOVD)
ACHE

SNP Genotyping and Copy Number Assays for research

Disorders for ACHE Gene

MalaCards: The human disease database

(76) MalaCards diseases for ACHE Gene - From: OMI, COP, and GCD

Disorder Aliases PubMed IDs
yt blood group antigen
  • cartwright antigen
colonic pseudo-obstruction
  • primary chronic pseudo-obstruction of colon
vascular dementia
  • multi infarct dementia
myasthenic syndrome, congenital, 5
  • cms5
myasthenia gravis
  • mg
- elite association - COSMIC cancer census association via MalaCards
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Additional Disease Information for ACHE

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for UniProtKB/Swiss-Prot and Genatlas for ACHE Gene

Publications for ACHE Gene

  1. 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 RM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 40
  2. Alzheimer's disease: case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample. (PMID: 17503475) Piccardi M … Del Zompo M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 40
  3. Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. (PMID: 15690550) Cook LJ … Rubinsztein DC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005) 3 22 40
  4. Inherited and acquired interactions between ACHE and PON1 polymorphisms modulate plasma acetylcholinesterase and paraoxonase activities. (PMID: 15715671) Bryk B … Soreq H (Journal of neurochemistry 2005) 3 22 40
  5. Structures of recombinant native and E202Q mutant human acetylcholinesterase complexed with the snake-venom toxin fasciculin-II. (PMID: 11053835) Kryger G … Sussman JL (Acta crystallographica. Section D, Biological crystallography 2000) 3 4 22

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