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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V1B1 Gene

protein-coding   GIFtS: 60
GCID: GC02P071162

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit...

(Previous name: vacuolar proton pump 3 )
(Previous symbols: VPP3, ATP6B1)
 Explore 22 diseases affiliated with
ATP6V1B1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP6V1B1    

Aliases
for ATP6V1B1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B11 2     V-ATPase Subunit B 12 3
ATP6B11 2 3 5     Vma21
VPP31 2 3 5     VMA22
VATB1 2 3     H(+)-Transporting Two-Sector ATPase, 58kD Subunit2
RTA1B1 2     H+-ATPase Beta 1 Subunit2
Vacuolar Proton Pump 31 2     V-ATPase B1 Subunit2
Endomembrane Proton Pump 58 KDa Subunit2 3     V-Type Proton ATPase Subunit B, Kidney Isoform2
Vacuolar Proton Pump 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


Summaries
for ATP6V1B1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATP6V1B1:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences 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 plasmid: ATP6V1B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ATP6V1B1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Endomembrane system; Peripheral membrane protein. Note=Endomembrane
Sequence caution: Sequence=AAA36498.1; Type=Erroneous initiation;
Secondary accessions: Q53FY0 Q6P4H6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P15313

    • ATP6V1B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001683.2  
    ENSEMBL proteins: 
     ENSP00000234396   ENSP00000405114   ENSP00000388353   ENSP00000408361   ENSP00000387599  
     ENSP00000407840  
    Reactome Protein details: P15313
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP6V1B1 Proteins
    Novus Biologicals ATP6V1B1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATP6V1B1

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm ISS14585495
    GO:0005829cytosol TAS--
    GO:0005902microvillus ISS14585495
    GO:0012505endomembrane system IEA--


    ATP6V1B1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V1B1

    Protein Domains /
    Families
    for ATP6V1B1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP6V1B1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_a/bsu_N
     IPR022879 V-ATPase_su_B/beta
     IPR005723 ATPase_V1-cplx_bsu
     IPR020003 ATPase_a/bsu_AS

    Graphical View of Domain Structure for InterPro Entry P15313

    ProtoNet protein and cluster: P15313

    1 Blocks protein family: 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


    Function
    for ATP6V1B1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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--
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism ----


    ATP6V1B1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Atp6v1b1tm1Choo for ATP6V1B1
         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


    Pathways & Interactions
    for ATP6V1B1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    		Insulin receptor recycling1.00
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    		Transferrin endocytosis and recycling0.79
    		Iron uptake and transport0.56
    		Collecting duct acid secretion0.68
    		Vibrio cholerae infection0.41
    		Phagosomal maturation (early endosomal stage)0.64
    		Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    		Disease1.00
    3Rheumatoid arthritis
    		Rheumatoid arthritis1.00
    4Phagosome
    		Phagosome1.00
    5IRS-related events
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for ATP6V1B1 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/7         Kegg Pathways  (Kegg details for ATP6V1B1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    ATP6V1B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1B1

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

    5/81 Interacting proteins for ATP6V1B1 (P153133 ENSP000002343964) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    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): 5/16 biological process terms (GO ID links to tree view) (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 IMP9916796


    ATP6V1B1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP6V1B1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V1B1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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--
    Search CenterWatch for drugs/clinical trials and news about ATP6V1B1 / VATB1 

    Transcripts
    for ATP6V1B1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/97 AceView cDNA sequences (see all 97):

    CR591416 BM976980 NM_001692 CR618579 AA292428 CR598781 AI873896 AI168259 
    BU608654 CA944873 CR609142 CB250605 AA477818 CA389283 BM712431 CR626470 
    CR617095 CR614364 BQ045138 AA478292 AI820766 BI771895 AI949472 BC035978 

    GeneLoc Exon Structure


    Expression
    for ATP6V1B1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6V1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTCCCCCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATP6V1B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    BoneEndochondral Facial BonesBone
    BrainCerebral CortexBrain
    CartilageNasal CapsuleCartilage
    EyeCorneaEye
    KidneyMetanephrosKidney
    LimbAutopodLimb
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Syncytiotrophoblast-like cells (Generation of syncyt...)

    See ATP6V1B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1B1

    SOURCE GeneReport for Unigene cluster: Hs.64173

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

        SABiosciences Custom PCR Arrays for ATP6V1B1
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    In Situ
    Assay Products:     
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    Orthologs
    for ATP6V1B1 gene

    (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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1B1 gene from 4/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia ATP6V1B16
    		 --
    		 84(a)
    		 1 ↔ 1
    		 GL344660.1(2629-24055)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G385101 V-type proton ATPase subunit B2 69.34(n)
    79.61(a)    		   830008  NM_001204025.1  NP_001190954.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g07110001 hypothetical protein 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
    for ATP6V1B1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V1B1 gene
    ATP6V1B22  
    2 SIMAP similar genes for ATP6V1B1 using alignment to 6 protein entries:     VATB1_HUMAN (see all proteins):
    ATP6B1    ATP6V1B2

    ATP6V1B1 for paralogs           About GeneDecksing



    Genomic Variants
    for ATP6V1B1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/670 NCBI SNPs in ATP6V1B1 are shown (see all 670)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219648801,2
    		Cpathogenic70921678(+) GGTGCT/CTGAGG 2 /P /L mis11Minor allele frequency- C:0.00EU 1281
    rs714148461,2
    		C,F,--70899261(+) GTTGGC/TGGGGA 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs349654001,2
    		--70899776(+) GCCCCA/GCTTCT 1 -- int10--------
    rs341958941,2
    		--70899853(+) ACGCAC/GTGGGG 1 -- int10--------
    rs608084921,2
    		C,--70899889(+) CAGGTG/AAAGGG 1 -- int12Minor allele frequency- A:0.11WA 120
    rs101697001,2
    		C,F,H,--70900186(+) CAATGG/AGTGCA 1 -- int18Minor allele frequency- A:0.14NS EA WA CSA 544
    rs116913101,2
    		H--70900611(+) CATCTC/TCTTGT 1 -- int10--------
    rs130237361,2
    		H--70902095(+) ACTTAG/TGCATT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs102087071,2
    		C,--70902659(+) CCCGGG/CCTTGC 1 -- int12Minor allele frequency- C:0.08WA 120
    rs346619021,2
    		C,F,--70903157(+) GTGTAC/TAAACA 1 -- int15Minor allele frequency- T:0.25NA EA 246

    HapMap Linkage Disequilibrium report for ATP6V1B1 (71162998 - 71192561 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP6V1B1: --
    Human Gene Mutation Database (HGMD): ATP6V1B1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP6V1B1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1B1

    Disorders / Diseases
    for ATP6V1B1 gene

    (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
    ATP6V1B1 for disorders           About GeneDecksing

    OMIM gene information: 192132   
    OMIM disorders: 267300  
    UniProtKB/Swiss-Prot: VATB1_HUMAN, P15313
  • Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300].
    • Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute
    illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+)
    due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of
    bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone
    formation commonly occur

    20/22 diseases for ATP6V1B1 (see all 22):    About MalaCards
    renal tubular acidosis    renal tubular acidosis, distal, autosomal recessive    renal tubular acidosis, distal    osteopetrosis
    medullary sponge kidney    renal tubular acidosis with deafness    hearing loss    sensorineural hearing loss
    microcytic anemia    hypercalciuria    nephrocalcinosis    osteomalacia
    rickets    rheumatoid arthritis    hepatoblastoma    anemia
    cholera    neurodegeneration    arthritis    pneumonia

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

    7 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ATP6V1B1 (7 documents)

    Export disorders for ATP6V1B1 gene to outside databases

    Publications
    for ATP6V1B1 gene

    (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

    PubMed articles for ATP6V1B1 gene, integrated from 9 sources (see all 57):
    (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. (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. (1989)
    3. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. (PubMed id 12579397)1, 2, 9 Ruf R.... Hildebrandt F. (2003)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2002)
    6. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit. (PubMed id 14585495)1, 9 Finberg K.E....Lifton R.P. (2003)
    7. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. (PubMed id 12500243)1, 9 Hahn H....Choi Y. (2003)
    8. Inner ear abnormalities in four patients with dRTA an d SNHL: clinical and genetic heterogeneity. (PubMed id 19639346)1, 9 Andreucci E....Pela I. (2009)
    9. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. (PubMed id 16433694)1, 9 Feldman M....Deltas C.C. (2006)
    10. Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. (PubMed id 17216496)1, 9 Gil H....Coto E. (2007)

    External Searches for ATP6V1B1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATP6V1B1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 525 HGNC: 853 AceView: ATP6V1B1 Ensembl:ENSG00000116039 euGenes: HUgn525
    ECgene: ATP6V1B1 Kegg: 525 H-InvDB: ATP6V1B1

    Other Databases showing ATP6V1B1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V1B1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP6V1B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V1B1

    Intellectual Property
    for ATP6V1B1 gene

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



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    About This Section

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