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ATP6V0B Gene

protein-coding   GIFtS: 61
GCID: GC01P044440

ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit B

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbol: ATP6F)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit B1 2     VMA162
ATP6F1 2 3 5     H(+)-Transporting Two-Sector ATPase, Subunit F2
Vacuolar Proton Pump 21 KDa Proteolipid Subunit2 3     V-ATPase Subunit C''2
V-ATPase 21 KDa Proteolipid Subunit2 3     V-Type Proton ATPase 21 KDa Proteolipid Subunit2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 21kD1     Vacuolar ATP Synthase 21 KDa Proteolipid Subunit2
ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit C''1     Vacuolar Proton Pump, 21 KDa Subunit2
HATPL2     hATPL3

External Ids:    HGNC: 8611   Entrez Gene: 5332   Ensembl: ENSG000001174107   OMIM: 6037175   UniProtKB: Q994373   

Export aliases for ATP6V0B gene to outside databases

Previous GC identifers: GC01P044278 GC01P043441 GC01P043870 GC01P043853 GC01P044109 GC01P044213 GC01P042556


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP6V0B 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 encoded protein is part of the transmembrane V0 domain and is the human
counterpart of yeast VMA16. Two alternatively spliced transcript variants that encode different proteins have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V0B Gene:
ATP6V0B (ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b) is a protein-coding gene. Diseases associated with ATP6V0B include cannabis abuse, and osteopetrosis. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and transporter activity.

UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437
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

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, endosomes, the Golgi apparatus, chromaffin granules and coated
vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.
The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.
There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles
to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These
transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation
and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause
recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of
sperm motility and maturation.

Gene Wiki entry for ATP6V0B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V0B gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   GATA-2   c-Ets-1   FAC1   Ik-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0B promoter sequence
   Search Chromatin IP Primers for ATP6V0B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V0B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p32.3

ATP6V0B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P044440:  view genomic region     (about GC identifiers)

Start:
44,440,159 bp from pter      End:
44,443,972 bp from pter
Size:
3,814 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437 (See protein sequence)
Recommended Name: V-type proton ATPase 21 kDa proteolipid subunit  
Size: 205 amino acids; 21406 Da
Subunit: Interacts with IFITM3 (By similarity)
Secondary accessions: D3DPY5 Q6IB32
Alternative splicing: 2 isoforms:  Q99437-1   Q99437-2   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ATP6V0B: NX_Q99437

REFSEQ proteins (2 alternative transcripts): 
NP_001034546.1  NP_004038.1  

ENSEMBL proteins: 
 ENSP00000432994   ENSP00000431605   ENSP00000434729   ENSP00000236067   ENSP00000432754  
 ENSP00000435396   ENSP00000431375   ENSP00000434094  
Reactome Protein details: Q99437

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
VATP: ATPases / V-type

IUPHAR Guide to PHARMACOLOGY protein family classification: b
V-type ATPase

2 InterPro protein domains:
 IPR002379 ATPase_proteolipid_c_like_dom
 IPR000245 ATPase_proteolipid_csu

Graphical View of Domain Structure for InterPro Entry Q99437

ProtoNet protein and cluster: Q99437

1 Blocks protein domain: IPB000245 Vacuolar ATP synthase 16kD subunit signature

UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437
Similarity: Belongs to the V-ATPase proteolipid subunit family


ATP6V0B for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: VATO_HUMAN, Q99437
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): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity TAS9653649
GO:0015078hydrogen ion transmembrane transporter activity IEA--
     
ATP6V0B for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for ATP6V0B:
 Decreased influenza A virus in 

Animal Models:
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hsa-miR-21* hsa-miR-513b hsa-miR-205* hsa-miR-145 hsa-miR-766 hsa-miR-548aa
SwitchGear 3'UTR luciferase reporter plasmidATP6V0B 3' UTR sequence
Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VATO_HUMAN, Q99437: Vacuole membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
vacuole5
endosome4
plasma membrane3

Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005768endosome ----
GO:0005774vacuolar membrane IEA--
GO:0010008endosome membrane TAS--
GO:0016021integral component of membrane IEA--
GO:0030670phagocytic vesicle membrane TAS--

ATP6V0B for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ATP6V0B About   (see all 12)  
See pathways by source

SuperPathContained pathways About
1Insulin receptor recycling
Insulin receptor recycling0.74
Vibrio cholerae infection0.40
Transferrin endocytosis and recycling0.74
Epithelial cell signaling in Helicobacter pylori infection0.32
Iron uptake and transport0.70
2Insulin receptor signalling cascade
Signaling by Insulin receptor0.80
3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
4Signaling by GPCR
Signal Transduction0.58
5Synaptic vesicle cycle
Synaptic vesicle cycle0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



3 Reactome Pathways for ATP6V0B
    Insulin receptor recycling
Phagosomal maturation (early endosomal stage)
Transferrin endocytosis and recycling


Selected Kegg Pathways  (Kegg details for ATP6V0B) (see all 9):
    Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle


ATP6V0B for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V0B
Interactions:

    Search GeneGlobe Interaction Network for ATP6V0B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ATP6V0B (Q994373 ENSP000002360674) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
InteractantInteraction Details
GeneCardExternal ID(s)
SNTA1Q134243I2D: score=1 
ATP6V0D1ENSP000002909494STRING: ENSP00000290949
ATP6V0D2ENSP000002853934STRING: ENSP00000285393
ATP6V0E1ENSP000002650934STRING: ENSP00000265093
ATP6V0E2ENSP000004116724STRING: ENSP00000411672
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006879cellular iron ion homeostasis TAS--
GO:0008286insulin receptor signaling pathway TAS--
GO:0015991ATP hydrolysis coupled proton transport IEA--
GO:0015992proton transport TAS9653649
GO:0033572transferrin transport TAS--

ATP6V0B for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for ATP6V0B available from Tocris Bioscience    About this table
CompoundAction CAS #
Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ATP6V0B gene (2 alternative transcripts): 
NM_001039457.1  NM_004047.3  

Unigene Cluster for ATP6V0B:

ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b
Hs.596514  [show with all ESTs]
Unigene Representative Sequence: BE620790
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000472505 ENST00000472174(uc001cld.3 uc001cle.3) ENST00000532642
ENST00000236067 ENST00000471859 ENST00000472277 ENST00000461670 ENST00000468183(uc001clf.3)
ENST00000473485 ENST00000496131 ENST00000498208 ENST00000532072 ENST00000498664

miRNA
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hsa-miR-21* hsa-miR-513b hsa-miR-205* hsa-miR-145 hsa-miR-766 hsa-miR-548aa
SwitchGear 3'UTR luciferase reporter plasmidATP6V0B 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector (see all 2): ATP6V0B (NM_004047)
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Primer
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Additional mRNA sequence: 

BC000423.2 BC005876.2 BT007151.1 CR456972.1 D89052.1 L05089.1 

12 DOTS entries:

DT.219596  DT.99982695  DT.97860594  DT.100828184  DT.100828183  DT.219601  DT.121356786  DT.100654749 
DT.97860599  DT.100828186  DT.91772781  DT.97860598 

Selected AceView cDNA sequences (see all 566):

BQ683340 W58264 BC005876 BQ687192 BM767455 AW249534 BG202976 BQ083798 
CR621763 BM716430 BE260656 CA488365 BI062470 BM781708 D81389 F30922 
BM764629 BQ640035 BE907385 BU180040 BU838138 CF127006 BM766749 AW954510 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0B (see all 12)    About this scheme

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:                          -     -     -     -     -           -     -                 -                 -                                             


ECgene alternative splicing isoforms for ATP6V0B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATP6V0B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTGGGGCTG
ATP6V0B Expression
About this image


ATP6V0B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 16) fully expand
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Cerebral Cortex
 
 Bone (Muscoskeletal System)
         Bone Marrow
 
 Neural Tube (Nervous System)
         Telencephalon
 
 Colon (Gastrointestinal Tract)
 
 Kidney (Urinary System)
ATP6V0B Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.596514

UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437
Tissue specificity: Ubiquitous

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0B gene from Selected species (see all 29)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Atp6v0b1 , 5 ATPase, H+ transporting, lysosomal V0 subunit B1, 5 89.59(n)1
96.1(a)1
  4 (53.73 cM)5
1141431  NM_033617.31  NP_291095.11 
 1178843265 
chicken
(Gallus gallus)
Aves ATP6V0B1 ATPase, H+ transporting, lysosomal 21kDa, V0 subunit more 80.98(n)
89.76(a)
  424575  NM_001277572.1  NP_001264501.1 
lizard
(Anolis carolinensis)
Reptilia ATP6V0B6
ATPase, H+ transporting, lysosomal 21kDa, V0 subun...
88(a)
1 ↔ 1
4(108867023-108882319)
African clawed frog
(Xenopus laevis)
Amphibia CD362016.12   -- 76.84(n)    CD362016.1 
zebrafish
(Danio rerio)
Actinopterygii wufb33a012 wufb33a01 78.25(n)   321724  BC058877.1 
fruit fly
(Drosophila melanogaster)
Insecta VhaPPA1-11 , 3 hydrogen-transporting two-sector
ATPase3
Vacuolar H[+] ATPase subunit PPA1-11
63(a)
(best of 2)3
62.3(n)1
64.92(a)1
  88D63
452471  NM_001260182.11  NP_001247111.11 
worm
(Caenorhabditis elegans)
Secernentea T01H3.13
vha-41
proteolipid protein PPA1 like protein3
vha-41
63(a)3
60.57(n)1
65.59(a)1
  II(7878204-7879374)3
1742721  NM_063258.61  NP_495659.11 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA16(YHR026W)4
VMA161
Subunit c'' of the vacuolar ATPase, which functions more4
VMA161
55.12(n)1
56.98(a)1
  8(160844-161485)4
8564211, 4  NP_011891.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G256101 AT2G25610 59.28(n)
56.96(a)
  817101  NM_128119.1  NP_180132.1 
rice
(Oryza sativa)
Liliopsida Os.205432 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.66(n)    AK104951.1 


ENSEMBL Gene Tree for ATP6V0B (if available)
TreeFam Gene Tree for ATP6V0B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ATP6V0B gene
2 SIMAP similar genes for ATP6V0B using alignment to 6 protein entries:     VATO_HUMAN (see all proteins):
ATP6F    ATP6V0C

ATP6V0B for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ATP6V0B (see all 83)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0357034
A breast cancer sample4--see VAR_0357032 V M mis40--------
rs1142403601,2
C,F--44439591(+) GCATCA/GGTCAT 2 -- us2k11Minor allele frequency- G:0.03WA 118
rs1433790611,2
--44439598(+) TCATGG/TGTTCT 2 -- us2k10--------
rs1154837791,2
C,F--44439717(+) TACTTA/CGTATG 2 -- us2k11Minor allele frequency- C:0.02NA 120
rs24860081,2
C,F,A,H--44439785(+) TTAAGC/TGGGGT 2 -- us2k1 tfbs325Minor allele frequency- T:0.20NS EA NA WA CSA 2354
rs1513007541,2
--44439939(+) ACGTTC/TAAAGA 2 -- us2k10--------
rs1932524211,2
--44440089(+) AGGGCA/GTTTCG 2 -- us2k10--------
rs46607611,2
C,F,A,H--44440146(+) ATCGCA/GGGAGC 2 -- us2k122Minor allele frequency- G:0.49NS EA NA CSA WA 2350
rs1405294661,2
--44440170(+) TTCCCA/TGCCAC 2 -- us2k10--------
rs1836088811,2
C--44440396(+) GCTGGC/TAGGGC 2 -- us2k10--------

HapMap Linkage Disequilibrium report for ATP6V0B (44440159 - 44443972 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for ATP6V0B:    About this table    
Variant IDTypeSubtypePubMed ID
nsv732CNV Insertion18451855
nsv870606CNV Loss21882294
dgv217n71CNV Loss21882294
nsv822498CNV Gain20364138

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ATP6V0B
DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603717    OMIM disorders: --

14 diseases for ATP6V0B:    
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cannabis abuse    osteopetrosis    visceral leishmaniasis    leishmaniasis
cholera    breast and colorectal cancer    tuberculosis    pneumonia
rheumatoid arthritis    arthritis    endotheliitis    malaria
colorectal cancer    cerebritis

1 disease from the University of Copenhagen DISEASES database for ATP6V0B:
Cannabis abuse

ATP6V0B for disorders           About GeneDecksing


Export disorders for ATP6V0B gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ATP6V0B gene, integrated from 10 sources (see all 25):
(articles sorted by number of sources associating them with ATP6V0B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of the gene encoding a second proteolipid subunit of human vacuolar H(+)-ATPase (ATP6F). (PubMed id 9653649)1, 2, 3, 9 Nishigori H.... Takeda J. (Genomics 1998)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (Mol. Endocrinol. 2013)
  4. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  5. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
  6. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (Cell 2007)
  7. Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump. (PubMed id 17576770)1 Lu M....Gluck S.L. (J. Biol. Chem. 2007)
  8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
  9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  10. An improved method for the synthesis of cellulose membrane-bound peptides with free C termini is useful for PDZ domain binding studies. (PubMed id 15123239)1 Boisguerin P....Volkmer-Engert R. (amp 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 533 HGNC: 861 AceView: ATP6V0B Ensembl:ENSG00000117410 euGenes: HUgn533
ECgene: ATP6V0B Kegg: 533 H-InvDB: ATP6V0B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ATP6V0B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ATP6V0B gene:
Search GeneIP for patents involving ATP6V0B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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