Seroatlas · Human Serome Atlas

ATP6V1E1

V-type proton ATPase subunit E 1

Also known as: ATP6E, ATP6E2, ATP6V1E, P31, VATE1_HUMAN, Vma4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P36543
Gene: ATP6V1E1
Ensembl: ENSG00000131100
Chromosome: 22
Canonical length: 226 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

226 residues, UniProt reviewed canonical sequence.

>P36543|ATP6V1E1
     1  MALSDADVQK QIKHMMAFIE QEANEKAEEI DAKAEEEFNI EKGRLVQTQR LKIMEYYEKK
    61  EKQIEQQKKI QMSNLMNQAR LKVLRARDDL ITDLLNEAKQ RLSKVVKDTT RYQVLLDGLV
   121  LQGLYQLLEP RMIVRCRKQD FPLVKAAVQK AIPMYKIATK NDVDVQIDQE SYLPEDIAGG
   181  VEIYNGDRKI KVSNTLESRL DLIAQQMMPE VRGALFGANA NRKFLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6V1E1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 326 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 326 nTPM
choroid plexus: 286 nTPM
basal ganglia: 243 nTPM
spinal cord: 236 nTPM
skeletal muscle: 234 nTPM
hippocampal formation: 229 nTPM

Single-cell type

syncytiotrophoblasts: 637 nCPM
esophageal apical cells: 595 nCPM
cytotrophoblasts: 279 nCPM
migrating cytotrophoblasts: 265 nCPM
hofbauer cells: 256 nCPM
megakaryocytes: 241 nCPM

Immune cell

eosinophil: 185 nTPM
basophil: 179 nTPM
neutrophil: 138 nTPM
non-classical monocyte: 121 nTPM
total PBMC: 113 nTPM
classical monocyte: 107 nTPM

Brain region

white matter: 245 nTPM
cerebral cortex: 229 nTPM
pons: 220 nTPM
hypothalamus: 215 nTPM
basal ganglia: 196 nTPM
thalamus: 193 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP6V1E1.

Disease | AllUniProt

Conditions ATP6V1E1 is implicated in, by any mechanism.

Cutis laxa, autosomal recessive, 2C (ARCL2C) MIM:617402

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 212 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive cutis laxa type 2C
Cutis laxa

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.51
gnomAD pLI: 0.53
gnomAD missense Z: 1.59
DepMap mean gene effect: -1.42
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP6V1E1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATP6V1E1 as an antibody target. Whether an autoantibody or antibody against ATP6V1E1 could matter depends on whether native ATP6V1E1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP6V1E1 is annotated at the cell surface, where native ATP6V1E1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ATP6V1E1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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