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    ACHE acetylcholinesterase (Cartwright blood group) [ Homo sapiens (human) ]

    Gene ID: 43, updated on 11-Jun-2017
    Official Symbol
    ACHEprovided by HGNC
    Official Full Name
    acetylcholinesterase (Cartwright blood group)provided by HGNC
    Primary source
    HGNC:HGNC:108
    See related
    Ensembl:ENSG00000087085 MIM:100740; Vega:OTTHUMG00000157033
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    YT; ACEE; ARACHE; N-ACHE
    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
    Location:
    7q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (100889994..100896133, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100487615..100493754, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene serrate, RNA effector molecule Neighboring gene UFM1 specific peptidase 1 (inactive) Neighboring gene RNA, 7SL, cytoplasmic 549, pseudogene Neighboring gene ribosomal protein S29 pseudogene 15

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Antigen in Cartwright blood group system
    MedGen: C0443844 OMIM: 112100 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
    NHGRI GWA Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    NHGRI GWA Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Gag, CA, and gp120 proteins co-localizes with CD63 and acetylcholinesterase-associated exosomes from supernatants of HIV-1 expressing cells. The 5' end of the Gag p17 open reading frame is sufficient for HIV-1 RNA exosome incorporation PubMed
    Nef nef HIV-1 Nef is detected in detergent-insoluble AChE+/CD81 low/TSG101 low exosomes, but not in detergent-soluble AChE-/CD81 high/TSG101 high exosomes in Nef-transfected 293T cells PubMed
    nef HIV-1 Nef increases intracellular expression of CD45 and AChE concomitant with release of Nef, CD45, and AChE PubMed
    nef HIV-1 Nef increases the production of exosomes and co-localizes with exosomal proteins CD63, AIP/Alix, AChE, Hsc70, LAMP2, and annexin A2 in HeLa cells PubMed
    Pr55(Gag) gag HIV-1 Gag, CA, and gp120 proteins co-localizes with CD63 and acetylcholinesterase-associated exosomes from supernatants of HIV-1 expressing cells. The 5' end of the Gag p17 open reading frame is sufficient for HIV-1 RNA exosome incorporation PubMed
    capsid gag HIV-1 Gag, CA, and gp120 proteins co-localizes with CD63 and acetylcholinesterase-associated exosomes from supernatants of HIV-1 expressing cells. The 5' end of the Gag p17 open reading frame is sufficient for HIV-1 RNA exosome incorporation PubMed

    Go to the HIV-1, Human Interaction Database

    • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      ATF-2 transcription factor network, organism-specific biosystem
      ATF-2 transcription factor network
    • Acetylcholine Synthesis, organism-specific biosystem (from WikiPathways)
      Acetylcholine Synthesis, organism-specific biosystemAcetylcholine is an important neurotransmitter. It can be rapidly released in the synaptic cleft upon activation of the neuron. In the synaptic cleft the compound is degraded rapidly into choline and...
    • Biogenic Amine Synthesis, organism-specific biosystem (from WikiPathways)
      Biogenic Amine Synthesis, organism-specific biosystemBiogenic amines are one of two broad classes of classical neurotransmitters (the other being amino acids) and include: acetylcholine, serotonin, histamine, and the catecholamines epinephrine, norepin...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Glycerophospholipid metabolism, organism-specific biosystem (from KEGG)
      Glycerophospholipid metabolism, organism-specific biosystem
      Glycerophospholipid metabolism
    • Glycerophospholipid metabolism, conserved biosystem (from KEGG)
      Glycerophospholipid metabolism, conserved biosystem
      Glycerophospholipid metabolism
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Melatonin metabolism and effects, organism-specific biosystem (from WikiPathways)
      Melatonin metabolism and effects, organism-specific biosystemMelatonin is an important regulator of circadian rythmus and influences also insulin secretion, immune function, retinal function and neuroprotection. The synthesis starts with the amino acid tryptop...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Monoamine Transport, organism-specific biosystem (from WikiPathways)
      Monoamine Transport, organism-specific biosystem
      Monoamine Transport
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystem (from REACTOME)
      Neurotransmitter Clearance In The Synaptic Cleft, organism-specific biosystemNeurotransmitter released in the synaptic cleft binds to specific receptors on the post-synaptic cell and the excess of the neurotransmitter is cleared to prevent over activation of the post-synapti...
    • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
      Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Synthesis of PC, organism-specific biosystem (from REACTOME)
      Synthesis of PC, organism-specific biosystemDe novo (Kennedy pathway) synthesis of phosphatidylcholine (PC) involves phosphorylation of choline (Cho) to phosphocholine (PCho) followed by condensing with cytidine triphosphate (CTP) to form CDP-...
    • Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystem (from REACTOME)
      Synthesis, secretion, and deacylation of Ghrelin, organism-specific biosystemGhrelin is a peptide hormone of 28 amino acid residues which is acylated at the serine-3 of the mature peptide. Ghrelin is synthesized in several tissues: X/A-like cells of the gastric mucosa (the ma...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acetylcholinesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholinesterase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acetylcholinesterase activity TAS
    Traceable Author Statement
    more info
     
    amyloid-beta binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cholinesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    laminin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    serine hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    acetylcholine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine catabolic process in synaptic cleft NAS
    Non-traceable Author Statement
    more info
    PubMed 
    amyloid precursor protein metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of synaptic transmission, cholinergic IC
    Inferred by Curator
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neurotransmitter biosynthetic process TAS
    Traceable Author Statement
    more info
     
    neurotransmitter receptor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    phosphatidylcholine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of receptor recycling IEA
    Inferred from Electronic Annotation
    more info
     
    response to wounding TAS
    Traceable Author Statement
    more info
    PubMed 
    retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    synapse assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    basal lamina NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic cleft IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    acetylcholinesterase
    Names
    Yt blood group
    acetylcholinesterase (Yt blood group)
    apoptosis-related acetylcholinesterase
    NP_000656.1
    NP_001269378.1
    NP_001289550.1
    NP_001289551.1
    XP_006716058.1
    XP_011514527.1
    XP_011514528.1
    XP_011514530.1
    XP_011514531.1
    XP_016867708.1
    XP_016867709.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007474.2 RefSeqGene

      Range
      5001..11140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000665.4NP_000656.1  acetylcholinesterase isoform E4-E6 precursor

      See identical proteins and their annotated locations for NP_000656.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (E4-E6) is the major, and ubiquitously expressed, transcript. The encoded isoform (E4-E6) encodes the hydrophilic form of acetylcholinesterase.
      Source sequence(s)
      AC011895, AK223443
      Consensus CDS
      CCDS5709.1
      UniProtKB/Swiss-Prot
      P22303
      Related
      ENSP00000241069.5, OTTHUMP00000211345, ENST00000241069.9, OTTHUMT00000347189
      Conserved Domains (3) summary
      COG0657
      Location:132237
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36563
      COesterase; Carboxylesterase family
      pfam08674
      Location:578611
      AChE_tetra; Acetylcholinesterase tetramerization domain
    2. NM_001282449.1NP_001269378.1  acetylcholinesterase isoform 3 precursor

      See identical proteins and their annotated locations for NP_001269378.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice acceptor site compared to variant E4-E6. The encoded isoform (3) is shorter than isoform E4-E6
      Source sequence(s)
      AC011895, AF334270, AK223443
      Consensus CDS
      CCDS64736.1
      UniProtKB/Swiss-Prot
      P22303
      Related
      ENSP00000403474.2, OTTHUMP00000211346, ENST00000419336.6, OTTHUMT00000347190
      Conserved Domains (3) summary
      COG0657
      Location:132394
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36475
      COesterase; Carboxylesterase family
      pfam08674
      Location:490523
      AChE_tetra; Acetylcholinesterase tetramerization domain
    3. NM_001302621.1NP_001289550.1  acetylcholinesterase isoform E4-E5 precursor

      See identical proteins and their annotated locations for NP_001289550.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, lacks an exon in 3' UTR and 3' coding region and uses an alternate terminal exon, compared to isoform E4-E6. The encoded isoform (4) is longer and has a distinct C-terminus compared to isoform E4-E6.
      Source sequence(s)
      AC011895, AI831696, BC105060
      Consensus CDS
      CCDS5710.1
      UniProtKB/Swiss-Prot
      P22303
      Related
      ENSP00000404865.1, OTTHUMP00000211347, ENST00000411582.1, OTTHUMT00000347191
      Conserved Domains (2) summary
      COG0657
      Location:132237
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36563
      COesterase; Carboxylesterase family
    4. NM_001302622.1NP_001289551.1  acetylcholinesterase isoform E4-E6 precursor

      See identical proteins and their annotated locations for NP_001289551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant E4-E5. Both variant 5 and E4-E6 encode the same protein (isoform E4-E5)
      Source sequence(s)
      AC011895, BC094752, DA205851
      Consensus CDS
      CCDS5709.1
      UniProtKB/Swiss-Prot
      P22303
      Related
      ENSP00000414858.1, OTTHUMP00000211349, ENST00000428317.5, OTTHUMT00000347194
      Conserved Domains (3) summary
      COG0657
      Location:132237
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36563
      COesterase; Carboxylesterase family
      pfam08674
      Location:578611
      AChE_tetra; Acetylcholinesterase tetramerization domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      100889994..100896133 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715995.2XP_006716058.1  acetylcholinesterase isoform X5

      See identical proteins and their annotated locations for XP_006716058.1

      UniProtKB/Swiss-Prot
      P22303
      Conserved Domains (2) summary
      COG0657
      Location:132237
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36563
      COesterase; Carboxylesterase family
    2. XM_017012220.1XP_016867709.1  acetylcholinesterase isoform X4

    3. XM_011516226.1XP_011514528.1  acetylcholinesterase isoform X3

      Conserved Domains (2) summary
      COG0657
      Location:298560
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:202641
      COesterase; Carboxylesterase family
    4. XM_017012219.1XP_016867708.1  acetylcholinesterase isoform X2

    5. XM_011516225.1XP_011514527.1  acetylcholinesterase isoform X1

      Conserved Domains (2) summary
      COG0657
      Location:298403
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:202729
      COesterase; Carboxylesterase family
    6. XM_011516228.2XP_011514530.1  acetylcholinesterase isoform X5

      See identical proteins and their annotated locations for XP_011514530.1

      UniProtKB/Swiss-Prot
      P22303
      Conserved Domains (2) summary
      COG0657
      Location:132237
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36563
      COesterase; Carboxylesterase family
    7. XM_011516229.2XP_011514531.1  acetylcholinesterase isoform X5

      See identical proteins and their annotated locations for XP_011514531.1

      UniProtKB/Swiss-Prot
      P22303
      Conserved Domains (2) summary
      COG0657
      Location:132237
      Aes; Acetyl esterase/lipase [Lipid transport and metabolism]
      pfam00135
      Location:36563
      COesterase; Carboxylesterase family

    RNA

    1. XR_927465.2 RNA Sequence

    2. XR_001744773.1 RNA Sequence

    3. XR_927464.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      100418205..100424356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015831.2: Suppressed sequence

      Description
      NM_015831.2: This RefSeq was removed because currently there is insufficient support for the transcript. NM_001302621.1 represents a similar splice structure and encodes the same 617 amino acid protein.
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