Gene/Proteome Database (LMPD)

LMPD ID
LMP001073
Gene ID
43
Species
Homo sapiens (Human)
Gene Name
acetylcholinesterase (Yt blood group)
Gene Symbol
ACHE
Synonyms
ACEE; ARACHE; N-ACHE; YT
Alternate Names
acetylcholinesterase; Yt blood group; apoptosis-related acetylcholinesterase
Chromosome
7
Map Location
7q22
EC Number
3.1.1.7
Summary
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]
Orthologs
View orthologs and multiple alignments for ACHE

Proteins

acetylcholinesterase isoform 3 precursor
Refseq ID NP_001269378
Protein GI 540344531
UniProt ID P22303
mRNA ID NM_001282449
Length 526
RefSeq Status REVIEWED
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDTLDEAERQWKAEFHRWSSYMVHWKNQFDHYSKQDRCSDL
acetylcholinesterase isoform E4-E5 precursor
Refseq ID NP_056646
Protein GI 7710112
UniProt ID P22303
mRNA ID NM_015831
Length 617
RefSeq Status REVIEWED
Protein sequence is identical to GI:705044464 (mRNA isoform)
sig_peptide: 1..33 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3424 peptide sequence: MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEG sig_peptide: 1..33 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3424 peptide sequence: MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEG sig_peptide: 1..33 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3424 peptide sequence: MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEG sig_peptide: 1..33 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3424 peptide sequence: MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEG sig_peptide: 1..31 calculated_mol_wt: 3238 peptide sequence: MRPPQCLLHTPSLASPLLLLLLWLLGGGVGA mat_peptide: 32..588 product: acetylcholinesterase isoform E4-E5 calculated_mol_wt: 60863 peptide sequence: EGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQVSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATASEAPSTCPGFTHG
acetylcholinesterase isoform E4-E6 precursor
Refseq ID NP_000656
Protein GI 4557239
UniProt ID P22303
mRNA ID NM_000665
Length 614
RefSeq Status REVIEWED
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQYVDTLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLALQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNHEWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQVSDLAAEAVVLHYTDWLHPEDPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFARTGDPNEPRDPKAPQWPPYTAGAQQYVSLDLRPLEVRRGLRAQACAFWNRFLPKLLSATDTLDEAERQWKAEFHRWSSYMVHWKNQFDHYSKQDRCSDL

Gene Information

Entrez Gene ID
43
Gene Name
acetylcholinesterase (Yt blood group)
Gene Symbol
ACHE
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005794 IDA:HGNC C Golgi apparatus
GO:0031225 IEA:UniProtKB-KW C anchored component of membrane
GO:0030424 IBA:RefGenome C axon
GO:0005605 NAS:HGNC C basal lamina
GO:0030054 IEA:UniProtKB-KW C cell junction
GO:0009986 IBA:RefGenome C cell surface
GO:0030425 IBA:RefGenome C dendrite
GO:0005788 IBA:RefGenome C endoplasmic reticulum lumen
GO:0005576 TAS:UniProtKB C extracellular region
GO:0005615 IBA:RefGenome C extracellular space
GO:0016020 IDA:HGNC C membrane
GO:0031594 IBA:RefGenome C neuromuscular junction
GO:0005634 IEA:UniProtKB-KW C nucleus
GO:0048471 IDA:HGNC C perinuclear region of cytoplasm
GO:0005886 TAS:Reactome C plasma membrane
GO:0045211 IBA:RefGenome C postsynaptic membrane
GO:0042734 IBA:RefGenome C presynaptic membrane
GO:0045202 IDA:HGNC C synapse
GO:0042166 NAS:UniProtKB F acetylcholine binding
GO:0003990 IMP:UniProtKB F acetylcholinesterase activity
GO:0001540 TAS:UniProtKB F beta-amyloid binding
GO:0004104 IDA:HGNC F cholinesterase activity
GO:0005518 IDA:HGNC F collagen binding
GO:0016787 IDA:HGNC F hydrolase activity
GO:0043236 IDA:BHF-UCL F laminin binding
GO:0042803 NAS:UniProtKB F protein homodimerization activity
GO:0017171 IDA:HGNC F serine hydrolase activity
GO:0006260 TAS:UniProtKB P DNA replication
GO:0006581 IDA:HGNC P acetylcholine catabolic process
GO:0001507 NAS:UniProtKB P acetylcholine catabolic process in synaptic cleft
GO:0042982 TAS:UniProtKB P amyloid precursor protein metabolic process
GO:0007155 TAS:UniProtKB P cell adhesion
GO:0008283 TAS:UniProtKB P cell proliferation
GO:0019695 IBA:RefGenome P choline metabolic process
GO:0046474 TAS:Reactome P glycerophospholipid biosynthetic process
GO:0007517 TAS:UniProtKB P muscle organ development
GO:0032223 IC:HGNC P negative regulation of synaptic transmission, cholinergic
GO:0007399 TAS:UniProtKB P nervous system development
GO:0042136 TAS:Reactome P neurotransmitter biosynthetic process
GO:0045212 IEA:Ensembl P neurotransmitter receptor biosynthetic process
GO:0002076 IEP:HGNC P osteoblast development
GO:0006656 TAS:Reactome P phosphatidylcholine biosynthetic process
GO:0006644 TAS:Reactome P phospholipid metabolic process
GO:0050714 TAS:UniProtKB P positive regulation of protein secretion
GO:0051262 IEA:Ensembl P protein tetramerization
GO:0031623 IEA:Ensembl P receptor internalization
GO:0050770 IBA:RefGenome P regulation of axonogenesis
GO:0048814 IBA:RefGenome P regulation of dendrite morphogenesis
GO:0001919 IEA:Ensembl P regulation of receptor recycling
GO:0009611 TAS:UniProtKB P response to wounding
GO:0060041 IEA:Ensembl P retina development in camera-type eye
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0007416 TAS:UniProtKB P synapse assembly
GO:0007268 TAS:Reactome P synaptic transmission
GO:0007271 IBA:RefGenome P synaptic transmission, cholinergic

KEGG Pathway Links

KEGG Pathway ID Description
hsa04725 Cholinergic synapse

Domain Information

InterPro Annotations

Accession Description
IPR014788 Acetylcholinesterase, tetramerisation domain
IPR029058 Alpha/Beta hydrolase fold
IPR019826 Carboxylesterase type B, active site
IPR019819 Carboxylesterase type B, conserved site
IPR002018 Carboxylesterase, type B
IPR000997 Cholinesterase

UniProt Annotations

Entry Information

Gene Name
acetylcholinesterase (Yt blood group)
Protein Entry
ACES_HUMAN
UniProt ID
P22303
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=T; Synonyms=ACHE-S, synaptic; IsoId=P22303-1; Sequence=Displayed; Name=H; Synonyms=ACHE-E, erythrocytic, E4-E5; IsoId=P22303-2; Sequence=VSP_001457; Note=GPI-anchor amidated glycine on Gly-588. Ref.9 (AAI43470) sequence is in conflict in position: 592:P->R. ; Name=R; Synonyms=ACHE-R, readthrough; IsoId=P22303-4; Sequence=VSP_035569, VSP_035570; Name=4; IsoId=P22303-3; Sequence=VSP_035568; Note=No experimental confirmation available.;
Catalytic Activity Acetylcholine + H(2)O = choline + acetate.
Function Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. {ECO
Interaction Q9Y215:COLQ; NbExp=2; IntAct=EBI-1637793, EBI-1637847; P06733:ENO1; NbExp=2; IntAct=EBI-1637793, EBI-353877; P63244:GNB2L1; NbExp=2; IntAct=EBI-1637793, EBI-296739;
Polymorphism ACHE is responsible for the Yt blood group system [MIM
Similarity Belongs to the type-B carboxylesterase/lipase family.
Subcellular Location Cell junction, synapse . Secreted {ECO
Subcellular Location Isoform H
Subcellular Location Isoform T
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. {ECO
Tissue Specificity Isoform H is highly expressed in erythrocytes.
Web Resource Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACHEID44317ch7q22.html";
Web Resource Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ache/";
Web Resource Name=Wikipedia; Note=Acetylcholinesterase entry; URL="http://en.wikipedia.org/wiki/Acetylcholinesterase";
Web Resource Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=yt";

Identical and Related Proteins

Unique RefSeq proteins for LMP001073 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
540344531 RefSeq NP_001269378 526 acetylcholinesterase isoform 3 precursor
4557239 RefSeq NP_000656 614 acetylcholinesterase isoform E4-E6 precursor

Identical Sequences to LMP001073 proteins

Reference Database Accession Length Protein Name
GI:540344531 GenBank AAO32948.1 526 apoptosis-related acetylcholinesterase [Homo sapiens]
GI:540344531 GenBank EAW76463.1 526 acetylcholinesterase (Yt blood group), isoform CRA_c [Homo sapiens]
GI:4557239 GenBank ACS10645.1 614 Sequence 9 from patent US 7541151
GI:4557239 GenBank ADA53076.1 614 Sequence 906 from patent US 7625699
GI:4557239 GenBank ADA53077.1 614 Sequence 907 from patent US 7625699
GI:4557239 RefSeq XP_003318708.1 614 PREDICTED: acetylcholinesterase isoform X8 [Pan troglodytes]
GI:4557239 RefSeq XP_004045977.1 614 PREDICTED: acetylcholinesterase isoform 1 [Gorilla gorilla gorilla]
GI:540344531 RefSeq XP_004045979.1 526 PREDICTED: acetylcholinesterase isoform 3 [Gorilla gorilla gorilla]
GI:4557239 RefSeq NP_001289551.1 614 acetylcholinesterase isoform E4-E6 precursor [Homo sapiens]

Related Sequences to LMP001073 proteins

Reference Database Accession Length Protein Name
GI:4557239 GenBank AAE40584.1 614 Sequence 25 from patent US 6001625
GI:4557239 GenBank AAZ39053.1 615 acetylcholinesterase synaptic isoform [synthetic construct]
GI:4557239 GenBank ACM81565.1 645 Sequence 7063 from patent US 6812339
GI:4557239 GenBank ACM81566.1 645 Sequence 7064 from patent US 6812339
GI:540344531 RefSeq XP_004268902.1 525 PREDICTED: acetylcholinesterase isoform 5 [Orcinus orca]
GI:540344531 RefSeq XP_004399107.1 523 PREDICTED: acetylcholinesterase isoform 4 [Odobenus rosmarus divergens]
GI:4557239 RefSeq XP_006716057.1 681 PREDICTED: acetylcholinesterase isoform X3 [Homo sapiens]
GI:540344531 RefSeq XP_006733785.1 523 PREDICTED: acetylcholinesterase isoform X3 [Leptonychotes weddellii]
GI:540344531 RefSeq XP_007468896.1 525 PREDICTED: acetylcholinesterase isoform X5 [Lipotes vexillifer]
GI:540344531 RefSeq XP_008591475.1 526 PREDICTED: acetylcholinesterase isoform X3 [Galeopterus variegatus]
GI:4557239 RefSeq XP_009452108.1 864 PREDICTED: acetylcholinesterase isoform X3 [Pan troglodytes]
GI:540344531 RefSeq XP_010342992.1 526 PREDICTED: acetylcholinesterase isoform X4 [Saimiri boliviensis boliviensis]