Seroatlas · Human Serome Atlas

ATP6V1H

V-type proton ATPase subunit H

Also known as: CGI-11, SFD, SFDalpha, SFDbeta, VATH_HUMAN, VMA13

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

Protein identityUniProt · HPA

UniProt accession: Q9UI12
Gene: ATP6V1H
Ensembl: ENSG00000047249
Chromosome: 8
Canonical length: 483 aa
Protein class: Metabolic proteins, Predicted intracellular proteins, Transporters
Subcellular location: Plasma membrane,Actin filaments,Cytosol

OverviewNCBI Gene

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

483 residues, UniProt reviewed canonical sequence.

>Q9UI12|ATP6V1H
     1  MTKMDIRGAV DAAVPTNIIA AKAAEVRANK VNWQSYLQGQ MISAEDCEFI QRFEMKRSPE
    61  EKQEMLQTEG SQCAKTFINL MTHICKEQTV QYILTMVDDM LQENHQRVSI FFDYARCSKN
   121  TAWPYFLPML NRQDPFTVHM AARIIAKLAA WGKELMEGSD LNYYFNWIKT QLSSQKLRGS
   181  GVAVETGTVS SSDSSQYVQC VAGCLQLMLR VNEYRFAWVE ADGVNCIMGV LSNKCGFQLQ
   241  YQMIFSIWLL AFSPQMCEHL RRYNIIPVLS DILQESVKEK VTRIILAAFR NFLEKSTERE
   301  TRQEYALAMI QCKVLKQLEN LEQQKYDDED ISEDIKFLLE KLGESVQDLS SFDEYSSELK
   361  SGRLEWSPVH KSEKFWRENA VRLNEKNYEL LKILTKLLEV SDDPQVLAVA AHDVGEYVRH
   421  YPRGKRVIEQ LGGKQLVMNH MHHEDQQVRY NALLAVQKLM VHNWEYLGKQ LQSEQPQTAA
   481  ARS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6V1H 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: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 87 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 87 nTPM
basal ganglia: 75 nTPM
amygdala: 67 nTPM
hippocampal formation: 64 nTPM
kidney: 57 nTPM
thyroid gland: 49 nTPM

Single-cell type

endometrial glandular cells: 619 nCPM
endometrial luminal cells: 352 nCPM
renal collecting duct intercalated cells: 307 nCPM
endometrial ciliated cells: 287 nCPM
distal convoluted tubule cells: 246 nCPM
brain excitatory neurons: 226 nCPM

Immune cell

eosinophil: 36 nTPM
basophil: 26 nTPM
non-classical monocyte: 24 nTPM
NK-cell: 23 nTPM
T-reg: 21 nTPM
myeloid DC: 20 nTPM

Brain region

cerebral cortex: 100 nTPM
hippocampal formation: 97 nTPM
basal ganglia: 73 nTPM
amygdala: 65 nTPM
hypothalamus: 57 nTPM
white matter: 56 nTPM

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): 0.63
gnomAD pLI: 0
gnomAD missense Z: 1.28
DepMap mean gene effect: -0.82
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

Armadillo-like helical
Armadillo-type fold
ATPase, V1 complex, subunit H
ATPase, V1 complex, subunit H, C-terminal
ATPase, V1 complex, subunit H, C-terminal domain superfamily
V-ATPase subunit H
V-ATPase subunit H

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP6V1H 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 ATP6V1H as an antibody target. Whether an autoantibody or antibody against ATP6V1H could matter depends on whether native ATP6V1H is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP6V1H 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 ATP6V1H as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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