ENSG00000087085


Homo sapiens

Features
Gene ID: ENSG00000087085
  
Biological name :ACHE
  
Synonyms : acetylcholinesterase (Cartwright blood group) / ACHE / P22303
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q22.1
Gene start: 100889994
Gene end: 100896974
  
Corresponding Affymetrix probe sets: 205377_s_at (Human Genome U133 Plus 2.0 Array)   205378_s_at (Human Genome U133 Plus 2.0 Array)   210332_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000403474
Ensembl peptide - ENSP00000400933
Ensembl peptide - ENSP00000404865
Ensembl peptide - ENSP00000415901
Ensembl peptide - ENSP00000414858
Ensembl peptide - ENSP00000410380
Ensembl peptide - ENSP00000241069
Ensembl peptide - ENSP00000303211
Ensembl peptide - ENSP00000390004
Ensembl peptide - ENSP00000394976
Ensembl peptide - ENSP00000396360
Ensembl peptide - ENSP00000397143
Ensembl peptide - ENSP00000399725
NCBI entrez gene - 43     See in Manteia.
OMIM - 100740
RefSeq - XM_017012220
RefSeq - NM_000665
RefSeq - NM_001282449
RefSeq - NM_001302621
RefSeq - NM_001302622
RefSeq - NM_015831
RefSeq - XM_006715995
RefSeq - XM_011516225
RefSeq - XM_011516226
RefSeq - XM_011516228
RefSeq - XM_011516229
RefSeq - XM_017012219
RefSeq Peptide - NP_001289551
RefSeq Peptide - NP_056646
RefSeq Peptide - NP_001269378
RefSeq Peptide - NP_001289550
RefSeq Peptide - NP_000656
swissprot - F8WD34
swissprot - F8WD68
swissprot - P22303
swissprot - Q6TQD3
swissprot - C9J2S3
swissprot - C9JZL6
swissprot - C9JUK5
swissprot - C9JD78
swissprot - F8WAR7
Ensembl - ENSG00000087085
  
Related genetic diseases (OMIM): 112100 - [Blood group, Yt system], 112100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acheENSDARG00000031796Danio rerio
 AcheENSMUSG00000023328Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BCHE / P06276 / butyrylcholinesteraseENSG0000011420047
NLGN4X / Q8N0W4 / neuroligin 4, X-linkedENSG0000014693834
NLGN3 / Q9NZ94 / neuroligin 3ENSG0000019633834
NLGN4Y / Q8NFZ3 / neuroligin 4, Y-linkedENSG0000016524633
NLGN2 / Q8NFZ4 / neuroligin 2ENSG0000016999233
NLGN1 / Q8N2Q7 / neuroligin 1ENSG0000016976033
CES2 / O00748 / carboxylesterase 2ENSG0000017283131
CES5A / Q6NT32 / carboxylesterase 5AENSG0000015939830
CES3 / Q6UWW8 / carboxylesterase 3ENSG0000017282830
CES1 / P23141 / carboxylesterase 1ENSG0000019884828
CEL / carboxyl ester lipaseENSG0000017083527
CES4A / Q5XG92 / carboxylesterase 4AENSG0000017282424


Protein motifs (from Interpro)
Interpro ID Name
 IPR000997  Cholinesterase
 IPR002018  Carboxylesterase, type B
 IPR014788  Acetylcholinesterase, tetramerisation domain
 IPR019819  Carboxylesterase type B, conserved site
 IPR019826  Carboxylesterase type B, active site
 IPR029058  Alpha/Beta hydrolase fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001507 acetylcholine catabolic process in synaptic cleft NAS
 biological_processGO:0001919 regulation of receptor recycling IEA
 biological_processGO:0002076 osteoblast development IEP
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006581 acetylcholine catabolic process IDA
 biological_processGO:0006656 phosphatidylcholine biosynthetic process TAS
 biological_processGO:0007155 cell adhesion IDA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007416 synapse assembly TAS
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0009611 response to wounding TAS
 biological_processGO:0031623 receptor internalization IEA
 biological_processGO:0032223 negative regulation of synaptic transmission, cholinergic IC
 biological_processGO:0042135 neurotransmitter catabolic process IEA
 biological_processGO:0042136 neurotransmitter biosynthetic process TAS
 biological_processGO:0042982 amyloid precursor protein metabolic process TAS
 biological_processGO:0045212 neurotransmitter receptor biosynthetic process IEA
 biological_processGO:0050714 positive regulation of protein secretion TAS
 biological_processGO:0051262 protein tetramerization IEA
 biological_processGO:0060041 retina development in camera-type eye IEA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005605 basal lamina NAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0043083 synaptic cleft IEA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0001540 amyloid-beta binding TAS
 molecular_functionGO:0003990 acetylcholinesterase activity TAS
 molecular_functionGO:0004104 cholinesterase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005518 collagen binding IDA
 molecular_functionGO:0016787 hydrolase activity IDA
 molecular_functionGO:0017171 serine hydrolase activity IDA
 molecular_functionGO:0042166 acetylcholine binding IDA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0043236 laminin binding IEA
 molecular_functionGO:0043621 protein self-association IEA
 molecular_functionGO:0052689 carboxylic ester hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Neurotransmitter clearance
Synthesis of PC
Synthesis, secretion, and deacylation of Ghrelin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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