Seroatlas · Human Serome Atlas

ATP6V0A1

V-type proton ATPase 116 kDa subunit a 1

Also known as: a1, ATP6N1, ATP6N1A, Stv1, Vph1, VPP1, VPP1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q93050
Gene
ATP6V0A1
Ensembl
ENSG00000033627
Chromosome
17
Canonical length
837 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nuclear speckles,Golgi apparatus,Vesicles,Cytosol

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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c"""""""""""""""""""""""""""""""", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

837 residues, UniProt reviewed canonical sequence.

>Q93050|ATP6V0A1
     1  MGELFRSEEM TLAQLFLQSE AAYCCVSELG ELGKVQFRDL NPDVNVFQRK FVNEVRRCEE
    61  MDRKLRFVEK EIRKANIPIM DTGENPEVPF PRDMIDLEAN FEKIENELKE INTNQEALKR
   121  NFLELTELKF ILRKTQQFFD EMADPDLLEE SSSLLEPSEM GRGTPLRLGF VAGVINRERI
   181  PTFERMLWRV CRGNVFLRQA EIENPLEDPV TGDYVHKSVF IIFFQGDQLK NRVKKICEGF
   241  RASLYPCPET PQERKEMASG VNTRIDDLQM VLNQTEDHRQ RVLQAAAKNI RVWFIKVRKM
   301  KAIYHTLNLC NIDVTQKCLI AEVWCPVTDL DSIQFALRRG TEHSGSTVPS ILNRMQTNQT
   361  PPTYNKTNKF TYGFQNIVDA YGIGTYREIN PAPYTIITFP FLFAVMFGDF GHGILMTLFA
   421  VWMVLRESRI LSQKNENEMF STVFSGRYII LLMGVFSMYT GLIYNDCFSK SLNIFGSSWS
   481  VRPMFTYNWT EETLRGNPVL QLNPALPGVF GGPYPFGIDP IWNIATNKLT FLNSFKMKMS
   541  VILGIIHMLF GVSLSLFNHI YFKKPLNIYF GFIPEIIFMT SLFGYLVILI FYKWTAYDAH
   601  TSENAPSLLI HFINMFLFSY PESGYSMLYS GQKGIQCFLV VVALLCVPWM LLFKPLVLRR
   661  QYLRRKHLGT LNFGGIRVGN GPTEEDAEII QHDQLSTHSE DADEPSEDEV FDFGDTMVHQ
   721  AIHTIEYCLG CISNTASYLR LWALSLAHAQ LSEVLWTMVI HIGLSVKSLA GGLVLFFFFT
   781  AFATLTVAIL LIMEGLSAFL HALRLHWVEF QNKFYSGTGF KFLPFSFEHI REGKFEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6V0A1 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
Intracellular
Secreted
No
Transmembrane segments
8
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
99 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 99 nTPM
  • cerebellum: 88 nTPM
  • retina: 85 nTPM
  • parathyroid gland: 72 nTPM
  • skeletal muscle: 56 nTPM
  • hypothalamus: 47 nTPM

Single-cell type

  • rod photoreceptor cells: 410 nCPM
  • lactotrophs: 285 nCPM
  • retinal ganglion cells: 282 nCPM
  • syncytiotrophoblasts: 259 nCPM
  • somatotrophs: 254 nCPM
  • endometrial glandular cells: 234 nCPM

Immune cell

  • basophil: 20 nTPM
  • neutrophil: 17 nTPM
  • classical monocyte: 14 nTPM
  • myeloid DC: 12 nTPM
  • eosinophil: 10 nTPM
  • naive B-cell: 6.8 nTPM

Brain region

  • hypothalamus: 168 nTPM
  • cerebral cortex: 168 nTPM
  • pons: 144 nTPM
  • white matter: 141 nTPM
  • basal ganglia: 141 nTPM
  • thalamus: 139 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP6V0A1.

Disease | AllUniProt

Conditions ATP6V0A1 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 104 (DEE104) MIM:619970
  • Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) MIM:619971

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Neurodevelopmental disorder with epilepsy and brain atrophy
  • Developmental and epileptic encephalopathy 104

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)
0.27
gnomAD pLI
1
gnomAD missense Z
3.74
DepMap mean gene effect
-0.22
DepMap dependency class
selective

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 ATP6V0A1 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 ATP6V0A1 as an antibody target. Whether an autoantibody or antibody against ATP6V0A1 could matter depends on whether native ATP6V0A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP6V0A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ATP6V0A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ATP6V0A1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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