This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in... See more...

Aliases for ATP6V0B Gene

Aliases for ATP6V0B Gene

  • ATPase H+ Transporting V0 Subunit B 2 3 5
  • HATPL 2 3 4
  • ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit B 2 3
  • V-Type Proton ATPase 21 KDa Proteolipid Subunit 3 4
  • Vacuolar Proton Pump 21 KDa Proteolipid Subunit 3 4
  • V-ATPase 21 KDa Proteolipid Subunit 3 4
  • ATP6F 3 4
  • VMA16 2 3
  • ATPase, H+ Transporting, Lysosomal, 21-KD, V0 Subunit C-Prime, Prime 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 21kD 2
  • ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit C'' 2
  • Vacuolar ATP Synthase 21 KDa Proteolipid Subunit 3
  • H(+)-Transporting Two-Sector ATPase, Subunit F 3
  • ATPase, H+ Transporting, Lysosomal, Subunit F 3
  • V-ATPase Subunit C'' 3
  • ATP6V0B 5

External Ids for ATP6V0B Gene

Previous HGNC Symbols for ATP6V0B Gene

  • ATP6F

Previous GeneCards Identifiers for ATP6V0B Gene

  • GC01P044278
  • GC01P043441
  • GC01P043870
  • GC01P043853
  • GC01P044109
  • GC01P044213
  • GC01P044440
  • GC01P042556

Summaries for ATP6V0B Gene

Entrez Gene Summary for ATP6V0B Gene

  • This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for ATP6V0B Gene

ATP6V0B (ATPase H+ Transporting V0 Subunit B) is a Protein Coding gene. Among its related pathways are Lysosome and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include transporter activity and proton transmembrane transporter activity. An important paralog of this gene is ATP6V0C.

UniProtKB/Swiss-Prot Summary for ATP6V0B Gene

  • Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V0B Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V0B Gene

Additional gene information for ATP6V0B Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V0B Gene

Genomics for ATP6V0B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V0B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V0B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V0B

Top Transcription factor binding sites by QIAGEN in the ATP6V0B gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FAC1
  • GATA-2
  • Ik-2

Genomic Locations for ATP6V0B Gene

Genomic Locations for ATP6V0B Gene
chr1:43,974,487-43,978,295
(GRCh38/hg38)
Size:
3,809 bases
Orientation:
Plus strand
chr1:44,440,159-44,443,972
(GRCh37/hg19)
Size:
3,814 bases
Orientation:
Plus strand

Genomic View for ATP6V0B Gene

Genes around ATP6V0B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V0B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0B Gene

Proteins for ATP6V0B Gene

  • Protein details for ATP6V0B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99437-VATO_HUMAN
    Recommended name:
    V-type proton ATPase 21 kDa proteolipid subunit
    Protein Accession:
    Q99437
    Secondary Accessions:
    • D3DPY5
    • Q6IB32

    Protein attributes for ATP6V0B Gene

    Size:
    205 amino acids
    Molecular mass:
    21406 Da
    Quaternary structure:
    • Interacts with IFITM3.

    Alternative splice isoforms for ATP6V0B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V0B Gene

Post-translational modifications for ATP6V0B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP6V0B Gene

Domains & Families for ATP6V0B Gene

Gene Families for ATP6V0B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ATP6V0B Gene

InterPro:
Blocks:
  • Vacuolar ATP synthase 16kD subunit signature
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V0B Gene

GenScript: Design optimal peptide antigens:
  • ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b, isoform CRA_a (Q6IB32_HUMAN)
  • V-ATPase subunit c'' (Q8NHD8_HUMAN)
  • hATPL (VATO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99437

UniProtKB/Swiss-Prot:

VATO_HUMAN :
  • Belongs to the V-ATPase proteolipid subunit family.
Family:
  • Belongs to the V-ATPase proteolipid subunit family.
genes like me logo Genes that share domains with ATP6V0B: view

Function for ATP6V0B Gene

Molecular function for ATP6V0B Gene

UniProtKB/Swiss-Prot Function:
Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Phenotypes From GWAS Catalog for ATP6V0B Gene

Gene Ontology (GO) - Molecular Function for ATP6V0B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9653649
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA 21873635
genes like me logo Genes that share ontologies with ATP6V0B: view
genes like me logo Genes that share phenotypes with ATP6V0B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V0B Gene

Localization for ATP6V0B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0B Gene

Vacuole membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V0B gene
Compartment Confidence
endosome 4
plasma membrane 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP6V0B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005768 endosome IEA --
GO:0005773 vacuole IEA --
GO:0005774 vacuolar membrane IEA --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with ATP6V0B: view

Pathways & Interactions for ATP6V0B Gene

genes like me logo Genes that share pathways with ATP6V0B: view

Gene Ontology (GO) - Biological Process for ATP6V0B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V0B: view

No data available for SIGNOR curated interactions for ATP6V0B Gene

Drugs & Compounds for ATP6V0B Gene

(3) Drugs for ATP6V0B Gene - From: DrugBank and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Tocris Compounds for ATP6V0B Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
genes like me logo Genes that share compounds with ATP6V0B: view

Transcripts for ATP6V0B Gene

mRNA/cDNA for ATP6V0B Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V0B

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0B Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: - -
SP9: - - -
SP10: -
SP11:
SP12:

Relevant External Links for ATP6V0B Gene

GeneLoc Exon Structure for
ATP6V0B

Expression for ATP6V0B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V0B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0B Gene

This gene is overexpressed in Whole Blood (x7.5).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V0B

SOURCE GeneReport for Unigene cluster for ATP6V0B Gene:

Hs.596514

mRNA Expression by UniProt/SwissProt for ATP6V0B Gene:

Q99437-VATO_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATP6V0B Gene

  • Kidney(4.5)
  • Muscle(4.5)
  • Nervous system(4.3)
  • Lung(3.4)
  • Skin(3.2)
  • Eye(2.6)
  • Blood(2.2)
  • Intestine(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ATP6V0B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V0B Gene

Orthologs for ATP6V0B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0B Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0B 31
  • 95 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia ATP6V0B 30 31
  • 94.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V0B 30 31
  • 93.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v0b 30
  • 92.67 (n)
Dog
(Canis familiaris)
Mammalia ATP6V0B 30 31
  • 92.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v0b 30 17 31
  • 89.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP6V0B 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP6V0B 30 31
  • 80.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6V0B 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v0b 30
  • 73.33 (n)
Str.10702 30
Zebrafish
(Danio rerio)
Actinopterygii atp6v0b 30 31
  • 75.61 (n)
OneToOne
wufb33a01 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3902 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009334 30
  • 66.28 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta VhaPPA1-1 30 31 32
  • 62.3 (n)
OneToMany
CG7026 32
  • 56 (a)
VhaPPA1-2 31
  • 50 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T01H3.1 32
  • 63 (a)
vha-4 30 31
  • 60.57 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR071W 30
  • 57.59 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11529g 30
  • 56.69 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA16 30 31 33
  • 55.12 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G25610 30
  • 59.28 (n)
Soybean
(Glycine max)
eudicotyledons Gma.17713 30
Rice
(Oryza sativa)
Liliopsida Os01g0610100 30
  • 63.68 (n)
Os.20543 30
Corn
(Zea mays)
Liliopsida Zm.3672 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU09747 30
  • 61.11 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma16 30
  • 56.63 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4230 31
  • 56 (a)
OneToOne
Species where no ortholog for ATP6V0B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP6V0B Gene

ENSEMBL:
Gene Tree for ATP6V0B (if available)
TreeFam:
Gene Tree for ATP6V0B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V0B: view image

Paralogs for ATP6V0B Gene

Paralogs for ATP6V0B Gene

(2) SIMAP similar genes for ATP6V0B Gene using alignment to 6 proteins:

  • VATO_HUMAN
  • E9PKB6_HUMAN
  • E9PMR1_HUMAN
  • E9PNL3_HUMAN
  • E9PNU0_HUMAN
  • H0YCC5_HUMAN
genes like me logo Genes that share paralogs with ATP6V0B: view

Variants for ATP6V0B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V0B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs373883976 A breast cancer sample p.Val155Met

Additional dbSNP identifiers (rs#s) for ATP6V0B Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0B Gene

Variant ID Type Subtype PubMed ID
nsv546141 CNV loss 21841781
nsv732 CNV insertion 18451855
nsv822498 CNV gain 20364138

Variation tolerance for ATP6V0B Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V0B Gene

Human Gene Mutation Database (HGMD)
ATP6V0B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0B Gene

Disorders for ATP6V0B Gene

No disorders were found for ATP6V0B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V0B Gene

Publications for ATP6V0B Gene

  1. Identification and characterization of the gene encoding a second proteolipid subunit of human vacuolar H(+)-ATPase (ATP6F). (PMID: 9653649) Nishigori H … Takeda J (Genomics 1998) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons. (PMID: 26514267) Benleulmi-Chaachoua A … Jockers R (Journal of pineal research 2016) 3
  5. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. (PMID: 23864651) Huang X … Wheeler MB (Molecular endocrinology (Baltimore, Md.) 2013) 3

Products for ATP6V0B Gene

Sources for ATP6V0B Gene