V-type proton ATPase subunit S1 (ATP6AP1)

The protein contains 470 amino acids for an estimated molecular weight of 52026 Da.

 

Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). (updated: Nov. 22, 2017)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. 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.
  3. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  4. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.

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.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete		TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

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.

No sequence conservation computed yet.
Protein sequence (FASTA)
Protein coevolution profile (FreeContact)
Multiple Sequence Alignment (Muscle)

This protein is predicted to be membranous by TOPCONS.

Topcons

Interpro domains
Total structural coverage: 0%
Model score: 0
No model available.

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VariantDescription
IMD47
IMD47
IMD47
IMD47

The reference OMIM entry for this protein is 300197

Atpase, h+ transporting, lysosomal, accessory protein 1; atp6ap1
Atp6ip1
Atp6s1
Vacuolar atpase subunit 1; vatps1

CLONING

The vacuolar proton-ATPase (V-ATPase) is composed of a catalytic and a membrane sector. See 603717. Supek et al. (1994) identified a 45-kD component of V-ATPase from bovine chromaffin granules and cloned the corresponding gene. The predicted 468-amino acid bovine protein, which they called Ac45, contains an N-terminal signal sequence and a C-terminal transmembrane domain. Independently, Sedlacek et al. (1993), Yokoi et al. (1994), and Chen et al. (1996) identified the human homolog of Ac45 as an open reading frame on chromosome Xq28. They designated the human gene XAP3, CF2, and VATPS1, respectively. Using Northern blot analysis, Yokoi et al. (1994) demonstrated that CF2 was expressed as a 2.6-kb mRNA in all tissues tested.

GENE STRUCTURE

Chen et al. (1996) reported that the VATPS1 gene contains 9 exons with an additional possible exon at the 3-prime end.

MAPPING

By sequence analysis, Sedlacek et al. (1993), Yokoi et al. (1994), and Chen et al. (1996) mapped the ATP6AP1 gene to chromosome Xq28. ... More on the omim web site

Subscribe to this protein entry history

Feb. 10, 2018: 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 300197 was added.