Acetylcholinesterase (ACHE)
The protein contains 614 amino acids for an estimated molecular weight of 67796 Da.
Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt.
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| Variant | Description |
|---|---|
| dbSNP:rs17881553 | |
| dbSNP:rs17885778 | |
| dbSNP:rs8286 | |
| Yt(b) antigen |
No binding partner found
Biological Process
Acetylcholine catabolic process
Acetylcholine catabolic process in synaptic cleft
Acetylcholine receptor signaling pathway
Amyloid precursor protein metabolic process
Cell adhesion
Cell population proliferation
Chemical synaptic transmission
DNA replication
Glycerophospholipid biosynthetic process
Muscle organ development
Negative regulation of synaptic transmission, cholinergic
Nervous system development
Neurotransmitter biosynthetic process
Obsolete neurotransmitter receptor biosynthetic process
Osteoblast development
Phosphatidylcholine biosynthetic process
Phospholipid metabolic process
Positive regulation of cold-induced thermogenesis
Positive regulation of protein secretion
Protein tetramerization
Receptor internalization
Regulation of receptor recycling
Response to wounding
Retina development in camera-type eye
Small molecule metabolic process
Synapse assembly
The reference OMIM entry for this protein is 100740
Acetylcholinesterase; ache
Acetylcholine acetylhydrolase
Yt
DESCRIPTION
Acetylcholinesterase (ACHE; EC 3.1.1.7) controls synaptic and neurohumoral cholinergic activity by hydrolyzing the neurotransmitter acetylcholine. ACHE function relies on precise regulation of its expression and localization. In particular, alternative splicing of the 3-prime region of ACHE results in ACHE isoforms with distinct C-terminal peptides that determine posttranslational maturation and oligomeric assembly (summary by Xie et al., 2010).CLONING
Soreq et al. (1990) obtained several ACHE cDNA clones truncated at the 5-prime end from adult and fetal human tissues, and they obtained the 5-prime end of ACHE from a genomic DNA library. The 5-prime end of the coding region contains a GC-rich region. The deduced 614-amino acid protein has a 25-amino acid N-terminal signal sequence, 3 potential N-glycosylation sites, and 7 cysteines. Six of the cysteines are predicted to form 3 intrasubunit disulfide bonds, and the free cysteine, cys611, is predicted to be involved in ACHE dimerization. The mature protein is predicted to begin with glu32 and to contain 583 amino acids. Li et al. (1991) obtained mouse and human genomic DNA clones for ACHE, as well as several mouse cDNA clones, and they extensively characterized the mouse clones. They identified 3 alternative splicing events at the 3-prime end of Ache. All Ache variants use the first 3 exons, which encode the N-terminal signal peptide and the first 535 amino acids of the mature protein. Alternative usage of the next exon alters the reading frame and introduces structural divergence in the C termini of the catalytic subunits. mRNA protection studies showed that an Ache transcript encoding a hydrophilic catalytic subunit was the dominant species in mouse brain and muscle. This isoform is found as soluble dimers and tetramers and is also disulfide linked to the lipid-associated noncatalytic subunit and the collagen-tail noncatalytic subunits. Two other Ache splice variants, one including intronic sequence and the other including a novel 5-prime exon after the common exons, were expressed in mouse hematopoietic cells. These variants were predicted to produce a monomeric Ache isoform and a glycophospholipid-linked Ache isoform, respectively. Using Northern blot and RT-PCR analyses, Karpel et al. (1994) identified 3 ACHE splice variants in human brain and tumor cell lines. All 3 variants include exons 1 through 4 and differ through alternative splicing at their 3-prime ends. An ACHE variant containing alternative exon 6 was expressed in adult brain and was predicted to encode the mature 583-amino acid globular hydrophilic subunit. This isoform forms homotetramers that can be 'tailed' to the membrane through interaction with other subunits. Two ACHE variants, one including alternative exon 5 and the other including unspliced intron 4 and exon 5, designated the read-through variant, were present in tumor tissues and cells, but not brain. These variants were predicted to encode hydrophobic phosphoinositide-linked ACHE isoforms that diverge from the mature 583-amino acid tailed isoform after amino acid 543. The novel C termini of both of these isoforms include a free cysteine, a consensus HG element for phosphoinositide linkage, and a 29-amino acid hydrophobic cleavable peptide. The mature proteins encoded by the exon 5- and intron 4/exon 5-containing variants (i.e., excluding the C-terminal cleavable peptide) contain 557 and 583 amino acids, respectively. Karpel e ... More on the omim web siteThe reference OMIM entry for this protein is 112100
Yt blood group antigen
Cartwright antigen
A number sign (#) is used with this entry because of the finding that this blood group system is an antigenic expression of the acetylcholinesterase molecule (ACHE; 100740).
DESCRIPTION
The antibody defining the very common antigen Yt(a) was the cause of a cross-matching difficulty investigated by Eaton et al. (1956). It was presumed to be the result of previous transfusions. Among 1,051 English people, 4 negatives were found. Positives showed 2 grades of strength of reaction; on the assumption that the weaker reactors represented heterozygotes, an estimate of gene frequency simply by counting was possible. Telen et al. (1990) found that the Yt (Cartwright) red cell antigen resided on an unidentified phosphatidylinositol (PI)-linked protein. Telen and Whitsett (1992) identified a patient with the hitherto unreported Yt(a-b-) phenotype in whom studies allowed localization of the Yt antigens to the acetylcholinesterase molecule. Telen and Whitsett (1992) found that binding of antibodies to several membrane proteins including CD55 (125240), CD58 (153420), and CD59 (107271) were normal, whereas 4 monoclonal antibodies to different acetylcholinesterase epitopes reacted only weakly with Yt(a-b-) erythrocytes. In addition, enzymatic assay of acetylcholinesterase activity of Yt(a-b-) erythrocytes demonstrated only 15% of the normal amount of enzyme activity. The use of anti-Yt(a) in radioimmunoprecipitation experiments demonstrated the expected 160 kD of the acetylcholinesterase molecule from normal erythrocyte membrane proteins, but not from Yt(a-b-) erythrocytes. Spring et al. (1992) obtained similar results. Thus, acetylcholinesterase is the PI-linked protein that represents the Yt antigen.MAPPING
Coghlan et al. (1989) found loose linkage of Yt and the Kell blood group locus (110900); the maximum lod score was 3.48 at theta = 0.28. The mapping of the Kell blood group locus to chromosome 7 means that the YT locus is also on 7q. This was directly demonstrated by Zelinski et al. (1991) who found close linkage to COL1A2 (120160); peak lod = 3.61 at theta = 0.00. It was also tightly linked to DNA marker D7S13; peak lod = 3.31 at theta = 0.00.MOLECULAR GENETICS
Bartels et al. (1993) demonstrated that the wildtype sequence of the ACHE gene, which corresponds to the YT1 blood group antigen, has histidine at codon 322 (CAC) and that the rare variant, the YT2 blood group antigen, has asparagine (AAC) at that position (100740.0001). ... More on the omim web site
July 1, 2021: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 1, 2021: Protein entry updated
Automatic update: OMIM entry 112100 was added.
April 11, 2021: Protein entry updated
Automatic update: OMIM entry 100740 was added.
April 11, 2021: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Feb. 16, 2021: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Feb. 16, 2021: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Oct. 21, 2020: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Oct. 21, 2020: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Aug. 24, 2020: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Aug. 24, 2020: Protein entry updated
Automatic update: OMIM entry 112100 was added.
June 29, 2020: Protein entry updated
Automatic update: OMIM entry 100740 was added.
June 29, 2020: Protein entry updated
Automatic update: OMIM entry 112100 was added.
April 25, 2020: Protein entry updated
Automatic update: OMIM entry 100740 was added.
April 25, 2020: Protein entry updated
Automatic update: OMIM entry 112100 was added.
March 4, 2020: Protein entry updated
Automatic update: OMIM entry 100740 was added.
March 4, 2020: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Jan. 23, 2020: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Jan. 23, 2020: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Dec. 3, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Dec. 3, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Oct. 28, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Oct. 28, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Sept. 22, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Sept. 22, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Aug. 20, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Aug. 20, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 4, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 4, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
June 7, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
June 7, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
May 12, 2019: Protein entry updated
Automatic update: OMIM entry 100740 was added.
May 12, 2019: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Nov. 16, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Nov. 16, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Oct. 2, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Oct. 2, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 6, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 6, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 6, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 6, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 5, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 5, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 5, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 5, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 4, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 4, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
July 2, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
July 2, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
May 26, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
May 26, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
April 27, 2018: Protein entry updated
Automatic update: OMIM entry 100740 was added.
April 27, 2018: Protein entry updated
Automatic update: OMIM entry 112100 was added.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 25, 2017: Additional information
No protein expression data in P. Mayeux work for ACHE
March 15, 2016: Protein entry updated
Automatic update: OMIM entry 100740 was added.
Jan. 27, 2016: Protein entry updated
Automatic update: model status changed
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed