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

Gene ID: 43, updated on 10-Oct-2020

Summary

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
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. 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]
Expression
Broad expression in bone marrow (RPKM 4.6), small intestine (RPKM 3.5) and 22 other tissues See more
Orthologs

Genomic context

See ACHE in Genome Data Viewer
Location:
7q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100889994..100896994, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Antigen in Cartwright blood group system
MedGen: C1862189 OMIM: 112100 GeneReviews: Not available
Compare labs
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
GeneReviews: Not available
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
GeneReviews: Not available
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
carboxylic ester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
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 self-association IEA
Inferred from Electronic Annotation
more info
 
serine hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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 
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 cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of protein secretion TAS
Traceable Author Statement
more info
PubMed 
receptor internalization IEA
Inferred from Electronic Annotation
more info
 
regulation of receptor recycling IEA
Inferred from Electronic Annotation
more info
 
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
 
basement membrane NAS
Non-traceable Author Statement
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

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
NP_001354844.1
NP_001354846.1
NP_001354847.1
NP_001354848.1

NCBI Reference Sequences (RefSeq)

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
    5246..11140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000665.5NP_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) encodes the hydrophilic form of acetylcholinesterase, isoform (E4-E6).
    Source sequence(s)
    AC011895, AK223443
    Consensus CDS
    CCDS5709.1
    UniProtKB/Swiss-Prot
    P22303
    Related
    ENSP00000241069.5, ENST00000241069.11
    Conserved Domains (2) summary
    pfam00135
    Location:39563
    COesterase; Carboxylesterase family
    pfam08674
    Location:578611
    AChE_tetra; Acetylcholinesterase tetramerisation domain
  2. NM_001282449.2NP_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, ENST00000419336.6
    Conserved Domains (2) summary
    pfam08674
    Location:490523
    AChE_tetra; Acetylcholinesterase tetramerisation domain
    pfam00135
    Location:37475
    COesterase; Carboxylesterase family
  3. NM_001302621.3NP_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, ENST00000411582.3
    Conserved Domains (1) summary
    pfam00135
    Location:39563
    COesterase; Carboxylesterase family
  4. NM_001302622.2NP_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, ENST00000428317.7
    Conserved Domains (2) summary
    pfam00135
    Location:39563
    COesterase; Carboxylesterase family
    pfam08674
    Location:578611
    AChE_tetra; Acetylcholinesterase tetramerisation domain
  5. NM_001367915.1NP_001354844.1  acetylcholinesterase isoform E4-E6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC011895
    Conserved Domains (2) summary
    pfam00135
    Location:39563
    COesterase; Carboxylesterase family
    pfam08674
    Location:578611
    AChE_tetra; Acetylcholinesterase tetramerisation domain
  6. NM_001367917.1NP_001354846.1  acetylcholinesterase isoform E4-E6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC011895
    Related
    ENSP00000394976.1, ENST00000412389.5
    Conserved Domains (2) summary
    pfam00135
    Location:39563
    COesterase; Carboxylesterase family
    pfam08674
    Location:578611
    AChE_tetra; Acetylcholinesterase tetramerisation domain
  7. NM_001367918.1NP_001354847.1  acetylcholinesterase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011895, KF510962
  8. NM_001367919.2NP_001354848.1  acetylcholinesterase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011895, KF510962

RNA

  1. NR_160407.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011895, KF510962
  2. NR_160408.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011895
    Related
    ENST00000440755.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100889994..100896994 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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