Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ATP6V1B1 Gene

protein-coding   GIFtS: 63
GCID: GC02P071162

ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit...

(Previous name: vacuolar proton pump 3)
(Previous symbols: VPP3, ATP6B1)
  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)
About This Section

TryGeneCards Plus

Aliases
ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B11 2     Renal Tubular Acidosis With Deafness1
ATP6B11 2 3 5     RTA1B2
VPP31 2 3 5     VMA22
Vacuolar Proton Pump 31 2     H(+)-Transporting Two-Sector ATPase, 58kD Subunit2
Endomembrane Proton Pump 58 KDa Subunit2 3     H+-ATPase Beta 1 Subunit2
Vacuolar Proton Pump Subunit B 12 3     V-ATPase B1 Subunit2
VATB2 3     V-Type Proton ATPase Subunit B, Kidney Isoform2
V-ATPase Subunit B 12 3     Vacuolar Proton Pump, Subunit 32

External Ids:    HGNC: 8531   Entrez Gene: 5252   Ensembl: ENSG000001160397   OMIM: 1921325   UniProtKB: P153133   

Export aliases for ATP6V1B1 gene to outside databases

Previous GC identifers: GC02P071172 GC02P071373 GC02P071120 GC02P071138 GC02P071139 GC02P071074 GC02P071016 GC02P070899


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for ATP6V1B1 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 one of two V1 domain B subunit isoforms and is found in the
kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V1B1 Gene:
ATP6V1B1 (ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1) is a protein-coding gene. Diseases associated with ATP6V1B1 include medullary sponge kidney, and renal tubular acidosis. GO annotations related to this gene include protein complex binding and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1B2.

UniProtKB/Swiss-Prot: VATB1_HUMAN, P15313
Function: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for
acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1B1 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 ATP6V1B1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V1B1 gene promoter:
         AML1a   GCNF   Lmo2   HNF-4alpha1   HEN1   FOXC1   deltaCREB   GCNF-1   SEF-1 (1)   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1B1 promoter sequence
   Search Chromatin IP Primers for ATP6V1B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1B1


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

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13

ATP6V1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1B1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P071162:  view genomic region     (about GC identifiers)

Start:
71,162,998 bp from pter      End:
71,192,561 bp from pter
Size:
29,564 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: VATB1_HUMAN, P15313 (See protein sequence)
Recommended Name: V-type proton ATPase subunit B, kidney isoform  
Size: 513 amino acids; 56833 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components:
subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the
proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7
Sequence caution: Sequence=AAA36498.1; Type=Erroneous initiation;
Secondary accessions: Q53FY0 Q6P4H6

Explore the universe of human proteins at neXtProt for ATP6V1B1: NX_P15313

Explore proteomics data for ATP6V1B1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6V1B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001683.2  
    ENSEMBL proteins: 
     ENSP00000234396   ENSP00000405114   ENSP00000388353   ENSP00000408361   ENSP00000387599  
     ENSP00000407840  
    Reactome Protein details: P15313

    ATP6V1B1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ATP6V1B1
    OriGene Protein Over-expression Lysate for ATP6V1B1
    OriGene MassSpec for ATP6V1B1
    OriGene Custom Protein Services for ATP6V1B1
    GenScript Custom Purified and Recombinant Proteins Services for ATP6V1B1
    Novus Biologicals ATP6V1B1 Proteins
    Novus Biologicals ATP6V1B1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATP6V1B1

    ATP6V1B1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ATP6V1B1
    OriGene Custom Antibody Services for ATP6V1B1
    Novus Biologicals ATP6V1B1 Antibodies
    Abcam antibodies for ATP6V1B1
    Cloud-Clone Corp. Antibodies for ATP6V1B1
    Search ThermoFisher Antibodies for ATP6V1B1
    LSBio Antibodies in human, mouse, rat for ATP6V1B1

    ATP6V1B1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATP6V1B1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATP6V1B1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATP6V1B1
    Cloud-Clone Corp. CLIAs for ATP6V1B1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: B1
    V-type ATPase

    Selected InterPro protein domains (see all 7):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_F1_a/bsu_N
     IPR022879 V-ATPase_su_B/beta
     IPR020003 ATPase_a/bsu_AS
     IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd

    Graphical View of Domain Structure for InterPro Entry P15313

    ProtoNet protein and cluster: P15313

    1 Blocks protein domain: IPB000194 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VATB1_HUMAN, P15313
    Domain: The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7
    Similarity: Belongs to the ATPase alpha/beta chains family


    ATP6V1B1 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATB1_HUMAN, P15313
    Function: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for
    acidifying a variety of intracellular compartments in eukaryotic cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0015078hydrogen ion transmembrane transporter activity ISS14585495
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA--
    GO:0032403protein complex binding IEA--
         
    ATP6V1B1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp6v1b1):
     behavior/neurological  hearing/vestibular/ear  homeostasis/metabolism  renal/urinary system  skeleton 
     taste/olfaction 

    ATP6V1B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp6v1b1tm1Choo for ATP6V1B1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6V1B1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP6V1B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP6V1B1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP6V1B1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ATP6V1B1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ATP6V1B1
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1B1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ATP6V1B1
    Predesigned siRNA for gene silencing in human, mouse, rat ATP6V1B1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP6V1B1

    Clone
    Products:
         
    OriGene clones in human, mouse for ATP6V1B1 (see all 7)
    OriGene ORF clones in mouse, rat for ATP6V1B1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATP6V1B1 (NM_001692)
    Sino Biological Human cDNA Clone for ATP6V1B1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1B1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATP6V1B1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ATP6V1B1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1B1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    VATB1_HUMAN, P15313: Endomembrane system; Peripheral membrane protein. Note=Endomembrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    vacuole3
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS14585495
    GO:0005829cytosol TAS--
    GO:0005902microvillus ISS14585495
    GO:0012505endomembrane system IEA--
    GO:0016020membrane ----

    ATP6V1B1 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for ATP6V1B1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Collecting duct acid secretion0.66
    Transferrin endocytosis and recycling0.74
    Vibrio cholerae infection0.40
    Iron uptake and transport0.70
    Epithelial cell signaling in Helicobacter pylori infection0.32
    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 ATP6V1B1
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V1B1) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1B1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1B1
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1B1

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

    Selected Interacting proteins for ATP6V1B1 (P153133 ENSP000002343964) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN4O437073, ENSP000002526994I2D: score=2 STRING: ENSP00000252699
    SLC9A3R1O147453, ENSP000002626134I2D: score=2 STRING: ENSP00000262613
    ATP6V0A1Q930503, ENSP000002646494I2D: score=1 STRING: ENSP00000264649
    STX1AQ166233, ENSP000002228124I2D: score=1 STRING: ENSP00000222812
    SLC23A2Q9UGH33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification IMP16433694
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006885regulation of pH IMP12414817
    GO:0007588excretion IMP12414817
    GO:0007605sensory perception of sound IMP19478356

    ATP6V1B1 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ATP6V1B1 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]

    5 HMDB Compounds for ATP6V1B1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ATP6V1B1 gene: 
    NM_001692.3  

    Unigene Cluster for ATP6V1B1:

    ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
    Hs.64173  [show with all ESTs]
    Unigene Representative Sequence: BC063411
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234396(uc002shi.1 uc002shj.3) ENST00000432367(uc010fdx.3)
    ENST00000412314 ENST00000454446 ENST00000432098 ENST00000463380 ENST00000495118
    ENST00000433895
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ATP6V1B1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ATP6V1B1
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1B1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ATP6V1B1
    Predesigned siRNA for gene silencing in human, mouse, rat ATP6V1B1
    Clone
    Products:
         
    OriGene clones in human, mouse for ATP6V1B1 (see all 7)
    OriGene ORF clones in mouse, rat for ATP6V1B1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATP6V1B1 (NM_001692)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1B1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ATP6V1B1
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP6V1B1
      QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1B1
      QuantiFast Probe-based Assays in human, mouse, rat ATP6V1B1

    Additional mRNA sequence: 

    AK223151.1 AK291121.1 AK301542.1 AK313194.1 BC063411.1 M25809.1 

    8 DOTS entries:

    DT.441167  DT.91969048  DT.100772937  DT.91670626  DT.97817275  DT.99933886  DT.100696264  DT.100704544 

    Selected AceView cDNA sequences (see all 97):

    CR614364 AA477818 CR617095 BU608654 CR609142 CB250605 AA292428 AI820766 
    NM_001692 BM712431 BQ045138 AI873896 AI168259 BM976980 CR591416 CR618579 
    CR598781 CA389283 CA944873 CR626470 AA478292 AW014581 BX339386 CB250555 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

    ATP6V1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCCCCCTC
    ATP6V1B1 Expression
    About this image


    ATP6V1B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
             Floor plate-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Epithelial Cells
             Outer Root Sheath Cells Outer Root Sheath
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
    ATP6V1B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.64173

    UniProtKB/Swiss-Prot: VATB1_HUMAN, P15313
    Tissue specificity: Expressed in the cochlea and endolymphatic sac

        Custom PCR Arrays for ATP6V1B1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ATP6V1B1
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP6V1B1
    QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1B1
    QuantiFast Probe-based Assays in human, mouse, rat ATP6V1B1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1B1

    (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)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1B1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1b11 , 5 ATPase, H+ transporting, lysosomal V1 subunit B11, 5 87.52(n)1
    93.76(a)1
      6 (35.94 cM)5
    1109351  NM_134157.21  NP_598918.11 
     837430175 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1B16
    ATPase, H+ transporting, lysosomal 56/58kDa, V1 su...
    84(a)
    1 ↔ 1
    GL344660.1(1899-24055)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp6v1b11 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit more 77.8(n)
    90.22(a)
      100135740  NM_001114262.1  NP_001107734.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v1ba1 ATPase, H+ transporting, lysosomal, V1 subunit B, member more 75.47(n)
    86(a)
      359839  NM_182878.1  NP_878298.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha553 proton transport hydrogen-transporting
    two-sector more
    86(a)   3 87C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea vha-121 , 3 vacuolar ATP synthase (strong)3
    vha-121
    83(a)
    (best of 2)3
    72.33(n)1
    84.07(a)1
      X(4226380-4228002)3
    1806921  NM_076310.71  NP_508711.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA26
    Subunit B of the eight-subunit V1 peripheral membr...
    72(a)
    1 → many
    II(491269-492822) YBR127C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G385101 AT4G38510 69.34(n)
    79.61(a)
      830008  NM_120012.4  NP_195563.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07110001 Os01g0711000 69.11(n)
    79.27(a)
      4327833  NM_001050578.1  NP_001044043.1 


    ENSEMBL Gene Tree for ATP6V1B1 (if available)
    TreeFam Gene Tree for ATP6V1B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ATP6V1B1 gene
    ATP6V1B22  
    2 SIMAP similar genes for ATP6V1B1 using alignment to 7 protein entries:     VATB1_HUMAN (see all proteins):
    ATP6B1    ATP6V1B2

    ATP6V1B1 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ATP6V1B1 (see all 840)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429056211,2,,4
    C,FRenal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4 --71058002(+) GAACCG/ACTCGG 2 /H /R mis11Minor allele frequency- A:0.00NA 4544
    VAR_0210124
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0210122 G V mis40--------
    VAR_0078714
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078712 P R mis40--------
    VAR_0078674
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078672 R W mis40--------
    VAR_0078664
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078662 L P mis40--------
    VAR_0078704
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078702 G E mis40--------
    VAR_0078724
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078722 G S mis40--------
    VAR_0210134
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0210132 R C mis40--------
    VAR_0078694
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078692 T P mis40--------
    VAR_0078684
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)4--see VAR_0078682 M R mis40--------

    HapMap Linkage Disequilibrium report for ATP6V1B1 (71162998 - 71192561 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATP6V1B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720180CNV Deletion23290073
    esv2720182CNV Deletion23290073
    esv1120035CNV Deletion17803354
    esv2720181CNV Deletion23290073
    esv2720179CNV Deletion23290073
    nsv874253CNV Gain21882294

    Human Gene Mutation Database (HGMD): ATP6V1B1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1B1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 192132   
    OMIM disorders: 267300  
    UniProtKB/Swiss-Prot: VATB1_HUMAN, P15313
  • Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300]: An autosomal
    recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing
    loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic
    hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of
    alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport
    is required for urinary acidification. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for ATP6V1B1 (see all 25):    
    About MalaCards
    medullary sponge kidney    renal tubular acidosis    renal tubular acidosis progressive nerve deafness    distal renal tubular acidosis with progressive nerve deafness
    renal tubular acidosis with deafness    renal tubular acidosis, distal, autosomal recessive    renal tubular acidosis, distal    osteopetrosis
    metabolic acidosis    microcytic anemia    nephrocalcinosis    sensorineural hearing loss
    osteomalacia    rickets    hepatoblastoma    cholera
    pneumonia    tuberculosis    rheumatoid arthritis    hypertension

    4 diseases from the University of Copenhagen DISEASES database for ATP6V1B1:
    Renal tubular acidosis     Sensorineural hearing loss     Nephrocalcinosis     Metabolic acidosis

    ATP6V1B1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for ATP6V1B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal tubular acidosis, distal, autosomal recessive 98.2 2 12500243 (1), 11045400 (1)
    distal renal tubular acidosis 95.4 8 17216496 (2), 16611712 (1), 9916796 (1), 16433694 (1) (see all 7)
    acidosis renal tubular 89.4 1 17670895 (1)
    deafness sensorineural 85.6 3 16433694 (1), 11160790 (1), 11045400 (1)
    hearing loss sensorineural 73.1 6 12500243 (2), 11139892 (2), 19364879 (1), 9916796 (1)
    metabolic acidosis 71.1 1 9916796 (1)
    hypercalciuria 70.7 1 17216496 (1)

    Genetic Association Database (GAD): ATP6V1B1
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1B1 (7 documents)

    Export disorders for ATP6V1B1 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for ATP6V1B1 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with ATP6V1B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. (PubMed id 9916796)1, 2, 3, 9 Karet F.E.... Lifton R.P. (Nat. Genet. 1999)
    2. Human endomembrane H+ pump strongly resembles the ATP-synthetase of Archaebacteria. (PubMed id 2527371)1, 2, 3 Suedhof T.C.... Xie X.-S. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    3. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (PubMed id 12579397)1, 2, 9 Ruf R.... Hildebrandt F. (Pediatr. Nephrol. 2003)
    4. Interactions between metallopeptidase 3 polymorphism rs679620 and BMI in predicting blood pressure in African-American women with hypertension. (PubMed id 19008710)1, 4, 9 Taylor J....Kardia S.L. (J. Hypertens. 2008)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans. (PubMed id 18180394)1, 4 Fung M.M....O'Connor D.T. (Circulation 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. (PubMed id 12414817)1, 2 Stover E.H.... Karet F.E. (J. Med. Genet. 2002)
    9. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit. (PubMed id 14585495)1, 9 Finberg K.E....Lifton R.P. (Gene 2003)
    10. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. (PubMed id 12500243)1, 9 Hahn H....Choi Y. (Am. J. Kidney Dis. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 525 HGNC: 853 AceView: ATP6V1B1 Ensembl:ENSG00000116039 euGenes: HUgn525
    ECgene: ATP6V1B1 Kegg: 525 H-InvDB: ATP6V1B1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ATP6V1B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP6V1B1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ATP6V1B1 gene:
    Search GeneIP for patents involving ATP6V1B1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ATP6V1B1   OriGene RNAi products in human, mouse, rat for ATP6V1B1  
     OriGene qPCR primer pairs and template standards for ATP6V1B1   OriGene Protein Over-expression Lysate for ATP6V1B1  
     OriGene MassSpec something-or-other for ATP6V1B1   OriGene clones in human, mouse for ATP6V1B1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1B1   OriGene Purified Protein for ATP6V1B1  
     OriGene ORF clones in mouse, rat for ATP6V1B1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ATP6V1B1   OriGene Custom Protein Services for ATP6V1B1  

     
     
     Block miRNA regulation of human, mouse, rat ATP6V1B1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ATP6V1B1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1B1 Predesigned siRNA for gene silencing in human, mouse, rat ATP6V1B1
     QuantiFast Probe-based Assays in human, mouse, rat ATP6V1B1 QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1B1
     Custom PCR Arrays for ATP6V1B1 Search Chromatin IP Primers for ATP6V1B1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP6V1B1  Search GeneGlobe Interaction Network for ATP6V1B1
     Regulatory tfbs in ATP6V1B1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ATP6V1B1 GenScript cDNA clones with any tag delivered in your preferred vector for ATP6V1B1
     GenScript Custom Assay Services for ATP6V1B1 GenScript Custom overexpressing Cell Line Services for ATP6V1B1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Tocris compounds for ATP6V1B1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for ATP6V1B1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ATP6V1B1 antibodies
     ATP6V1B1 proteins
     ATP6V1B1 lysates
     Antibodies for ATP6V1B1
     See all of Abcam's Antibodies, Kits and Proteins for ATP6V1B1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ATP6V1B1
     Antibodies for ATP6V1B1
     ELISAs for ATP6V1B1
     CLIAs for ATP6V1B1



     Browse ESI BIO Cell Lines and PureStem Progenitors for ATP6V1B1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1B1
     SwitchGear 3'UTR luciferase reporter plasmids for ATP6V1B1
     SwitchGear Promoter luciferase reporter plasmids for ATP6V1B1
     Search ThermoFisher Antibodies for ATP6V1B1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1B1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6V1B1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP6V1B1
     LSBio Antibodies in human, mouse, rat for ATP6V1B1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ATP6V1B1 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4