V-type proton ATPase subunit E 1 (ATP6V1E1)
The protein contains 226 amino acids for an estimated molecular weight of 26145 Da.
Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). (updated: June 2, 2021)
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.
- Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
- 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 UniProt.
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| Variant | Description |
|---|---|
| a colorectal cancer sample; somatic mutation | |
| ARCL2C | |
| ARCL2C |
Biological Process
ATP hydrolysis coupled proton transport
Biological process involved in interaction with host
Cellular iron ion homeostasis
Cellular response to amino acid starvation
Insulin receptor signaling pathway
Ion transmembrane transport
Phagosome acidification
Phagosome maturation
Proton transmembrane transport
Proton transport
Regulation of macroautophagy
Transferrin transport
Transmembrane transport
The reference OMIM entry for this protein is 108746
Atpase, h+ transporting, lysosomal, 31-kd, v1 subunit e; atp6v1e
Atpase, h+ transporting, lysosomal, subunit e; atp6e
Vacuolar proton pump, 31-kd subunit
DESCRIPTION
The vacuolar-type H(+)-ATPase (V-ATPase) is responsible for the acidification of endosomes, lysosomes, and other intracellular organelles. It is also involved in hydrogen ion transport across the plasma membrane into the extracellular space. The V-ATPase is a multisubunit complex with cytosolic and transmembrane domains. The cytosolic catalytic domain consists of 3 A subunits and 3 B subunits, which bind and hydrolyze ATP, as well as regulatory accessory subunits including C (603097), D (607028), and E.CLONING
Van Hille et al. (1993) cloned subunit E from an osteoclastoma cDNA library with probes developed by PCR from the bovine cDNA sequence. The deduced 242-amino acid protein has a calculated molecular mass of about 26 kD and shares 99% homology with the bovine sequence. Northern blot analysis revealed ubiquitous and comparable expression of a 1.6-kb transcript. Baud et al. (1994) isolated heterogeneous nuclear RNA from somatic cell hybrids selected for their chromosome 22 content. Inter-Alu PCR amplification yielded a series of human DNA fragments that detected evolutionarily conserved sequences. The gene fragment closest to the centromere, designated XEN61, was found to be present in 4 copies in 6 patients with the cat eye syndrome (115470), a disorder of known partial trisomy of 22pter-q11.2. A fetal brain cDNA clone was identified with XEN61 and completely sequenced. The deduced protein was the E subunit of vacuolar H(+)-ATPase. This 31-kD component of a proton pump is essential in eukaryotic cells because it both controls acidification of the vacuolar system and provides it with its main protonmotive force. RT-PCR experiments indicated that the corresponding mRNA is widely transcribed.MAPPING
Puech et al. (1997) did comparative mapping of the human 22q11 region in the mouse using 7 genes that had been ordered unambiguously by physical mapping: cen--ATP6E--IDD (600594)--CLTD (601273)--TMVCF (602101)--GP1BB (138720)--COMT (116790)--ARVCF (602269)--tel. The region containing these genes was estimated to span about 1.5 Mb. Five of the 7 genes (Idd, Gp1bb, Tmvcf, Arvcf, and Comt) were found to be located on mouse chromosome 16. Atp6e mapped to the distal region of mouse chromosome 6. In addition to MMU16 and MMU6, some loci from the 22q region were found to be located on MMU10. Furthermore the genes that are located on mouse chromosome 16 show a quite different relative organization from that in humans. Puech et al. (1997) interpreted these results showing that instability of the 22q11 region is not restricted to humans but may have been present throughout evolution. The results underscore the importance of detailed comparative mapping of genes in mice and humans as a prerequisite for the development of mouse models of human diseases involving chromosomal rearrangements, such as velocardiofacial syndrome (192430) and DiGeorge syndrome (188400). ... More on the omim web site
July 1, 2021: Protein entry updated
Automatic update: Entry updated from uniprot information.
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 108746 was added.