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Aliases for ACHE Gene

Aliases for ACHE Gene

  • Acetylcholinesterase (Cartwright Blood Group) 2 3 5
  • Acetylcholinesterase (YT Blood Group) 2 3
  • Yt Blood Group 2 3
  • EC 3.1.1.7 4 61
  • Apoptosis-Related Acetylcholinesterase 3
  • Acetylcholinesterase 3
  • EC 3.1.1 61
  • 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 Intestinal Obstruction. Among its related pathways are Monoamine Transport and ATF-2 transcription factor network. GO annotations related to this gene include protein homodimerization activity and collagen binding. An important paralog of this gene is BCHE.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G100894 1.4 ENCODE dbSUPER 19.8 +0.6 568 4.6 HDGF PKNOX1 CREB3L1 SIN3A ARID4B DMAP1 ZNF2 ZBTB7B ZNF143 SP3 ENSG00000242798 GIGYF1 MOSPD3 STAG3L5P ACHE SLC12A9 MUC3A TRIP6 AP4M1 GPC2
GH07G100886 1.4 ENCODE dbSUPER 19.7 +7.6 7646 5.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ACHE SLC12A9 MOSPD3 MUC3A AGFG2 GNB2 PPP1R35 FIS1 GC07M100887 UFSP1
GH07G100873 1.2 ENCODE 20.7 +21.7 21668 2.9 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D GLIS1 PPP1R35 ACHE SLC12A9 TRIP6 MUC3A GIGYF1 AP4M1 GNB2 STAG3L5P EPHB4
GH07G100909 1.2 Ensembl ENCODE 19.4 -14.7 -14726 3.5 HDGF ATF1 PKNOX1 ARNT YY1 TCF12 ZNF121 ZNF766 GATA2 KLF13 ACHE SLC12A9 MUC3A COPS6 MBLAC1 UFSP1 PILRB FIS1 MOSPD3 LOC102724094
GH07G100865 1.1 ENCODE 19.9 +29.7 29655 4.3 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZBTB7B YY1 FOS KLF13 ACHE TRIP6 GPC2 STAG3L5P MIR6875
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000327509 -126 201 HDAC1 RB1 KLF17 GLI4 RAD21 ZNF654 ZEB2 REST ZNF592 KLF16
ENSR00000215869 1174 401 ARID4B DMAP1 ZNF2 ZNF48 GLIS2 MXD4 TSHZ1 REST KAT8 GLIS1
ENSR00000327510 1874 201 HDAC1 RB1 KLF17 ZBTB7B RAD21 GLIS2 ZNF143 RELB IKZF2 KDM4B

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

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, posLast=381381, and posLast=495495
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ACHE (Acetylcholinesterase/ACHE)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACHE

Assay Products

  • Cloud-Clone Corp. Assay Kits for 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:0003990 acetylcholinesterase activity TAS --
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:

Animal Model Products

miRNA for ACHE Gene

miRTarBase miRNAs that target ACHE

Inhibitory RNA Products

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 5
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 2
cytosol 2
lysosome 2

Gene Ontology (GO) - Cellular Components for ACHE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS 11283752
GO:0005605 basal lamina NAS 16289501
GO:0005615 extracellular space IEA --
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:0006260 DNA replication TAS 11283752
GO:0006581 acetylcholine catabolic process IDA 1517212
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

(121) 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 inhibitor, Target Cholinesterase inhibitor 83
Ambenonium Approved Pharma inhibitor, Target 0
Donepezil Approved Pharma inhibitor, Target 286
Edrophonium Approved Pharma inhibitor, Target 1
Galantamine Approved Pharma inhibitor, Target 106

(85) Additional Compounds for ACHE Gene - From: HMDB, Novoseek, 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
Donepezil hydrochloride
120011-70-3
Galanthamine hydrobromide
1953-04-4

(5) Tocris Compounds for ACHE Gene

Compound Action Cas Number
Ambenonium dichloride Cholinesterase inhibitor 115-79-7
Donepezil hydrochloride Potent AChE inhibitor 120011-70-3
Galanthamine hydrobromide Cholinesterase inhibitor 1953-04-4
Rivastigmine tartrate Dual AChE and BChE inhibitor 129101-54-8
Tacrine hydrochloride Cholinesterase inhibitor 1684-40-8

(18) 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
Galanthaminone Cholinesterase(AChE) inhibitor 510-77-0
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
Phenserine 101246-66-6
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

Drug Products

Transcripts for ACHE Gene

Unigene Clusters for ACHE Gene

Acetylcholinesterase:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ACHE Gene:

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)
  • Adrenal gland(2.4)
  • Intestine(2.4)
  • Liver(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ACHE: view

Primer Products

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 34 35
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia ACHE 34 35
  • 89.72 (n)
dog
(Canis familiaris)
Mammalia ACHE 34 35
  • 89.63 (n)
mouse
(Mus musculus)
Mammalia Ache 34 16 35
  • 84.91 (n)
rat
(Rattus norvegicus)
Mammalia Ache 34
  • 84.69 (n)
oppossum
(Monodelphis domestica)
Mammalia ACHE 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACHE 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACHE 34
  • 64.66 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 41 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
-- 35
  • 40 (a)
ManyToMany
-- 35
  • 40 (a)
ManyToMany
-- 35
  • 40 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
-- 35
  • 36 (a)
ManyToMany
-- 35
  • 36 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490673 34
  • 63.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8963 34
zebrafish
(Danio rerio)
Actinopterygii ache 34 35
  • 64.04 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ACES_ANOGA 34
  • 56.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Est8 36
  • 36 (a)
Jhe 36
  • 36 (a)
Ace 36 35
  • 35 (a)
CG3841 36
  • 35 (a)
Est-6 36
  • 35 (a)
Est-P 36
  • 35 (a)
BcDNA:GH05741 36
  • 32 (a)
CG6414 36
  • 32 (a)
clt 36
  • 32 (a)
alpha-Est1 36
  • 31 (a)
alpha-Est7 36
  • 31 (a)
CG6018 36
  • 31 (a)
Gli 36
  • 31 (a)
CG4382 36
  • 31 (a)
alpha-Est10 36
  • 30 (a)
CG10175 36
  • 30 (a)
CG7529 36
  • 30 (a)
alpha-Est2 36
  • 29 (a)
alpha-Est4 36
  • 29 (a)
alpha-Est5 36
  • 29 (a)
alpha-Est6 36
  • 29 (a)
alpha-Est9 36
  • 29 (a)
CG8424 36
  • 29 (a)
alpha-Est3 36
  • 28 (a)
CG10339 36
  • 28 (a)
CG5397 36
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea ace-1 35 34 36
  • 47.89 (n)
ManyToMany
R173.3 36
  • 42 (a)
T07H6.1a 36
  • 37 (a)
B0238.13 36
  • 34 (a)
ace-4 35 36
  • 33 (a)
ManyToMany
ace-2 35 36
  • 31 (a)
ManyToMany
ace-3 35 36
  • 31 (a)
ManyToMany
B0238.1 36
  • 30 (a)
F13H6.3 36
  • 30 (a)
K11G9.1 36
  • 29 (a)
F55D10.3 36
  • 28 (a)
T02B5.3 36
  • 27 (a)
T28C12.4a 36
  • 26 (a)
T28C12.4b 36
  • 26 (a)
T02B5.1 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
Species where no ortholog for ACHE was found in the sources mined by GeneCards:
  • 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

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 Benign 100,893,176(-) ACTTC(A/C)ACGGC nc-transcript-variant, reference, missense
rs1000084778 -- 100,895,649(+) GGAAG(A/C)GTTCC intron-variant, upstream-variant-2KB
rs1000529033 -- 100,894,767(+) CCCCA(A/G)ATCCT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001224035 -- 100,894,919(+) CTCGA(C/G)AGCCC intron-variant, upstream-variant-2KB
rs1001371809 -- 100,890,193(+) CGGAG(G/T)ACATG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links for ACHE Gene

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

Disorders for ACHE Gene

MalaCards: The human disease database

(49) MalaCards diseases for ACHE Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colonic pseudo-obstruction
  • primary chronic pseudo-obstruction of colon
intestinal obstruction
primary orthostatic hypotension
  • neurogenic orthostatic hypotension
vascular dementia
  • multi infarct dementia
myasthenic syndrome, congenital, 5
  • congenital myasthenic syndrome 5
- 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. 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 22 46 64
  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 22 64
  3. 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 22 64
  4. 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 22 64
  5. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PMID: 21490949) Sim X. … Tai E.S. (PLoS Genet. 2011) 3 46 64

Products for ACHE Gene

  • Addgene plasmids for ACHE

Sources for ACHE Gene