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Aliases for ATP6V0B Gene

Aliases for ATP6V0B Gene

  • ATPase H+ Transporting V0 Subunit B 2 3 5
  • ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit B 2 3
  • Vacuolar Proton Pump 21 KDa Proteolipid Subunit 3 4
  • V-ATPase 21 KDa Proteolipid Subunit 3 4
  • HATPL 3 4
  • ATP6F 3 4
  • 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
  • V-Type Proton ATPase 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
  • VMA16 3

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. Diseases associated with ATP6V0B include Lymphocytic Choriomeningitis. Among its related pathways are Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transporter activity and hydrogen ion transmembrane transporter activity.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0B Gene

Genomics for ATP6V0B Gene

Regulatory Elements for ATP6V0B Gene

Enhancers for ATP6V0B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G043945 1.4 ENCODE dbSUPER 19.4 -27.4 -27449 2.7 MLX CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ATP6V0B CCDC24 LOC101929609 LOC101929592 IPO13 DPH2
GH01G043928 1.4 Ensembl ENCODE dbSUPER 18.6 -44.4 -44391 2.3 PKNOX1 CBX3 ZNF2 RAD21 ZEB1 GLIS2 GATA2 EGR1 ZSCAN5C SCRT2 ATP6V0B ARTN CCDC24 ST3GAL3 GC01M043857
GH01G043973 1.1 ENCODE 19.8 +0.8 755 3.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ATP6V0B SZT2 CCDC24 RPS8 LOC105378687 ST3GAL3 B4GALT2
GH01G043978 1.1 ENCODE 19.5 +5.2 5208 2.9 HDGF FOXA2 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF766 KLF13 ATP6V0B CCDC24 ARTN ST3GAL3 B4GALT2
GH01G043969 1 ENCODE 19.8 -4.3 -4343 1.6 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 ZNF766 ATP6V0B DPH2 PIR55688
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V0B on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V0B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005682 713 1601 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for ATP6V0B Gene

Chromosome:
1
Start:
43,974,487 bp from pter
End:
43,978,300 bp from pter
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 :

Suggested Antigen Peptide Sequences for ATP6V0B Gene

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.

Gene Ontology (GO) - Molecular Function for ATP6V0B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9653649
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
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

Inhibitory RNA Products

Clone Products

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

Gene Ontology (GO) - Cellular Components for ATP6V0B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IBA --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007035 vacuolar acidification IBA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
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: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 37
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(3) 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
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
genes like me logo Genes that share compounds with ATP6V0B: view

Transcripts for ATP6V0B Gene

Unigene Clusters for ATP6V0B Gene

ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ATP6V0B

Expression for ATP6V0B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of ATP6V0B Gene:

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(4.4)
  • Muscle(4.4)
  • Nervous system(4.2)
  • Lung(3.2)
  • Skin(2.7)
  • Eye(2.6)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ATP6V0B: view

Primer Products

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 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0B 34 35
  • 94.44 (n)
cow
(Bos Taurus)
Mammalia ATP6V0B 34 35
  • 93.01 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v0b 34
  • 92.67 (n)
dog
(Canis familiaris)
Mammalia ATP6V0B 34 35
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Atp6v0b 34 16 35
  • 89.59 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0B 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0B 34 35
  • 80.98 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V0B 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0b 34
  • 73.33 (n)
Str.10702 34
zebrafish
(Danio rerio)
Actinopterygii atp6v0b 34 35
  • 75.61 (n)
wufb33a01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3902 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009334 34
  • 66.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta VhaPPA1-1 36 34 35
  • 62.3 (n)
CG7026 36
  • 56 (a)
VhaPPA1-2 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01H3.1 36
  • 63 (a)
vha-4 34 35
  • 60.57 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR071W 34
  • 57.59 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11529g 34
  • 56.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA16 34 35 37
  • 55.12 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25610 34
  • 59.28 (n)
soybean
(Glycine max)
eudicotyledons Gma.17713 34
rice
(Oryza sativa)
Liliopsida Os01g0610100 34
  • 63.68 (n)
Os.20543 34
corn
(Zea mays)
Liliopsida Zm.3672 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09747 34
  • 61.11 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma16 34
  • 56.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4230 35
  • 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 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)

Paralogs for ATP6V0B Gene

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

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

No data available for Paralogs for ATP6V0B Gene

Variants for ATP6V0B Gene

Sequence variations from dbSNP and Humsavar for ATP6V0B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs373883976 A breast cancer sample 43,977,088(+) TCTGC(A/G)TGGGC reference, missense
rs1000203167 -- 43,976,991(+) TCCTG(G/T)CTTAG intron-variant
rs1000269994 -- 43,977,069(+) TCTAA(C/T)CTCTT reference, synonymous-codon
rs1000321309 -- 43,977,378(+) AGGGG(-/CTCT)CTATT intron-variant, upstream-variant-2KB, reference, frameshift-variant
rs1000495113 -- 43,976,088(+) ACAAC(A/G)GGTTC splice-acceptor-variant

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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V0B Gene - From: GeneCards

Disorder Aliases PubMed IDs
lymphocytic choriomeningitis
  • lcm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP6V0B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0B
genes like me logo Genes that share disorders with ATP6V0B: view

No data available for 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 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. (PMID: 23864651) Huang X. … Wheeler M.B. (Mol. Endocrinol. 2013) 3 64
  4. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64
  5. Lipofuscin is formed independently of macroautophagy and lysosomal activity in stress-induced prematurely senescent human fibroblasts. (PMID: 22982048) HAPhn A. … Grune T. (Free Radic. Biol. Med. 2012) 3 64

Products for ATP6V0B Gene

Sources for ATP6V0B Gene

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