Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ATP6V1A Gene

protein-coding   GIFtS: 65
GCID: GC03P113465

ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: VPP2, ATP6A1, ATP6V1A1)
Microbiology & Infectious Diseases Congress
  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

Aliases
ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A1 2     Vma12
ATP6V1A11 2 3 5     ATPase, H+ Transporting, Lysosomal, Subunit A12
ATP6A11 2 3     H(+)-Transporting Two-Sector ATPase, Subunit A2
VPP21 2 3     H+-Transporting ATPase Chain A, Vacuolar (VA68 Type)2
Vacuolar ATPase Isoform VA682 3     V-ATPase 69 KDa Subunit 12
Vacuolar Proton Pump Subunit Alpha2 3     V-ATPase A Subunit 12
V-ATPase Subunit A2 3     V-Type Proton ATPase Catalytic Subunit A2
EC 3.6.3.143 8     Vacuolar ATP Synthase Catalytic Subunit A, Ubiquitous Isoform2
HO682 5     Vacuolar Proton Pump Alpha Subunit 12
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Alpha
Polypeptide, 70kD, Isoform 11
     V-ATPase 69 KDa Subunit3
VA682     EC 3.6.38

External Ids:    HGNC: 8511   Entrez Gene: 5232   Ensembl: ENSG000001145737   OMIM: 6070275   UniProtKB: P386063   

Export aliases for ATP6V1A gene to outside databases

Previous GC identifers: GC03P114747 GC03P114786 GC03P114948 GC03P110840


(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 ATP6V1A 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 A subunit isoforms and is found in all
tissues. Transcript variants derived from alternative polyadenylation exist. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V1A Gene: 
ATP6V1A (ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A) is a protein-coding gene. Diseases associated with ATP6V1A include bone giant cell tumor, and histoplasmosis, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include proton-transporting ATP synthase activity, rotational mechanism and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot: VATA_HUMAN, P38606
Function: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is
responsible for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1A 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 ATP6V1A 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1A gene promoter:
         E2F-5   PPAR-gamma1   E2F-1   E2F   AP-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1A promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1A


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

Entrez Gene cytogenetic band: 3q13.31   Ensembl cytogenetic band:  3q13.2   HGNC cytogenetic band: 3q13.31

ATP6V1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P113465:  view genomic region     (about GC identifiers)

Start:
113,465,866 bp from pter      End:
113,530,905 bp from pter
Size:
65,040 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VATA_HUMAN, P38606 (See protein sequence)
Recommended Name: V-type proton ATPase catalytic subunit A  
Size: 617 amino acids; 68304 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)
Secondary accessions: B2RBR8 D3DN75 Q53YD9 Q96DY6 Q9UHY3

Explore the universe of human proteins at neXtProt for ATP6V1A: NX_P38606

Explore proteomics data for ATP6V1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P38606

  • 4/52 DME Specific Peptides for ATP6V1A (P38606) (see all 52)
     ELGPGIM  SVELGPG  NWLISYS  LSKYSNS 

    ATP6V1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1A Protein Expression
    REFSEQ proteins: NP_001681.2  
    ENSEMBL proteins: 
     ENSP00000273398   ENSP00000420146   ENSP00000417545   ENSP00000419294   ENSP00000439874  
    Reactome Protein details: P38606
    Human Recombinant Protein Products for ATP6V1A: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ATP6V1A
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ATP6V1A
    GenScript Custom Purified and Recombinant Proteins Services for ATP6V1A
    Novus Biologicals ATP6V1A Proteins
    Novus Biologicals ATP6V1A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATP6V1A 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--
    GO:0005887integral to plasma membrane TAS8463241

    ATP6V1A for ontologies           About GeneDecksing



    ATP6V1A Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ATP6V1A
    GenScript Superior Antibodies for ATP6V1A
    Novus Biologicals ATP6V1A Antibodies
    Abcam antibodies for ATP6V1A
    Cloud-Clone Corp. Antibodies for ATP6V1A 
    ThermoFisher Antibody for ATP6V1A
    LSBio Antibodies in human, mouse, rat for ATP6V1A 

    Assay Products for ATP6V1A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATP6V1A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATP6V1A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATP6V1A 
    Cloud-Clone Corp. CLIAs for ATP6V1A


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

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

    5/8 InterPro protein domains (see all 8):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_a/bsu_N
     IPR027417 P-loop_NTPase
     IPR020003 ATPase_a/bsu_AS
     IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd

    Graphical View of Domain Structure for InterPro Entry P38606

    ProtoNet protein and cluster: P38606

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

    UniProtKB/Swiss-Prot: VATA_HUMAN, P38606
    Similarity: Belongs to the ATPase alpha/beta chains family


    ATP6V1A 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATA_HUMAN, P38606
    Function: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is
    responsible for acidifying a variety of intracellular compartments in eukaryotic cells
    Catalytic activity: ATP + H(2)O + H(+)(In) = ADP + phosphate + H(+)(Out)

         Enzyme Numbers (IUBMB): EC 3.6.3.141 2 EC 3.6.32

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances ----
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP6V1A for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ATP6V1A:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP6V1A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATP6V1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP6V1A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP6V1A 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1A
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP6V1A (see all 61):
    hsa-miR-4307 hsa-miR-199a-3p hsa-miR-605 hsa-miR-200a hsa-miR-485-3p hsa-miR-29a hsa-miR-128 hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1A 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATP6V1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP6V1A
    Sirion Biotech Customized adenovirus for overexpression of ATP6V1A

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ATP6V1A (see all 7)
    OriGene ORF clones in mouse, rat for ATP6V1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATP6V1A (NM_001690)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1A
    Sirion Biotech Customized lentivirus for stable overexpression of ATP6V1A 
                         Customized lentivirus expression plasmids for stable overexpression of ATP6V1A 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATP6V1A
    Search LifeMap BioReagents cell lines for ATP6V1A
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1A


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP6V1A About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.79
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Phagosomal maturation (early endosomal stage)0.64
    Iron uptake and transport0.69
    Vibrio cholerae infection0.41
    Collecting duct acid secretion0.68
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.55
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for ATP6V1A (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/8         Kegg Pathways  (Kegg details for ATP6V1A) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1A

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

    5/185 Interacting proteins for ATP6V1A (P386062, 3 ENSP000002733984) via UniProtKB, MINT, STRING, and/or I2D (see all 185)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8270882 I2D: score=2 
    SMN2Q166372, 3MINT-8270882 I2D: score=2 
    ANXA7P200732, 3MINT-8248009 I2D: score=2 
    CDKN1AP389362, 3MINT-8251602 I2D: score=2 
    TK1P041832, 3MINT-8272971 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8463241
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport ----

    ATP6V1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 ATP6V1A:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1A 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]

    4 HMDB Compounds for ATP6V1A    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--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for ATP6V1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AlendronateAcide Alendronique [INN-French] (see all 5)66376-36-1targetinhibitor8889850
    Bafilomycin A1-- 88899-55-2targetinhibitor12689676
    Bafilomycin B1-- 88899-56-3targetinhibitor15638326
    Etidronic acidAcetodiphosphonic acid (see all 11)7414-83-7targetinhibitor8889850
    TiludronateAcide tiludronique [INN-French] (see all 6)89987-06-4targetinhibitor8889850

    Search CenterWatch for drugs/clinical trials and news about ATP6V1A / VATA

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP6V1A gene: 
    NM_001690.3  

    Unigene Cluster for ATP6V1A:

    ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
    Hs.477155  [show with all ESTs]
    Unigene Representative Sequence: NM_001690
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273398(uc003eao.3 uc011bik.2) ENST00000462855 ENST00000470455
    ENST00000496747 ENST00000475322 ENST00000461496 ENST00000538620
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1A
    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP6V1A (see all 61):
    hsa-miR-4307 hsa-miR-199a-3p hsa-miR-605 hsa-miR-200a hsa-miR-485-3p hsa-miR-29a hsa-miR-128 hsa-miR-650
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATP6V1A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1A
    Clone
    Products:
         
    OriGene clones in human, mouse for ATP6V1A (see all 7)
    OriGene ORF clones in mouse, rat for ATP6V1A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATP6V1A (NM_001690)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1A
    Sirion Biotech Customized lentivirus for stable overexpression of ATP6V1A 
                         Customized lentivirus expression plasmids for stable overexpression of ATP6V1A 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ATP6V1A
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V1A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1A

    Additional mRNA sequence: 

    AF113129.1 AF339827.1 AK293804.1 AK295150.1 AK308801.1 AK314779.1 BC012169.1 BC013138.1 
    BT006672.1 L09235.1 

    14 DOTS entries:

    DT.100812379  DT.120919361  DT.100672958  DT.451964  DT.95227231  DT.100812376  DT.100032589  DT.40113513 
    DT.95170858  DT.95348148  DT.97797810  DT.120919376  DT.120919389  DT.120919413 

    24/367 AceView cDNA sequences (see all 367):

    BM678499 BQ436968 AI142863 BU621208 BU153529 AI239463 AI537906 CB070368 
    AA232358 AL514316 AA977365 BC013138 BU957435 BQ213562 BQ071085 AI285175 
    BI091362 AI280934 CA842778 AI890297 AA218683 AW304919 BF439901 CB121136 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1A (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
    SP1:                                      -                                                                       -     -     -     -     -                     
    SP2:                    -                 -                                                                                                                     
    SP3:                                      -                                                                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                          -     -     -                     

    ExUns: 18b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ATP6V1A

    (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

    ATP6V1A expression in normal human tissues (normalized intensities)      ATP6V1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTACAGT
    ATP6V1A Expression
    About this image


    ATP6V1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   
     
     Uterus (Reproductive System)    fully expand to see all 4 entries
             uterus, post-menopause ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   

    See ATP6V1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1A

    SOURCE GeneReport for Unigene cluster: Hs.477155

    UniProtKB/Swiss-Prot: VATA_HUMAN, P38606
    Tissue specificity: Present in all tissues analyzed

        SABiosciences Custom PCR Arrays for ATP6V1A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ATP6V1A
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V1A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1A

    (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 ATP6V1A gene from 10/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1a1 , 5 ATPase, H+ transporting, lysosomal V1 subunit A1, 5 89.47(n)1
    98.06(a)1
      16 (28.44 cM)5
    119641  NM_007508.51  NP_031534.21 
     440854025 
    chicken
    (Gallus gallus)
    Aves ATP6V1A1 ATPase, H+ transporting, lysosomal 70kDa, V1 subunit more 80.72(n)
    92.59(a)
      395821  NM_204974.1  NP_990305.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ATP6V1A6
    Uncharacterized protein
    97(a)
    94(a)
    possible ortholog
    1 ↔ 1
    AAWZ02039755(835-948)
    GL343473.1(404661-456143)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp6a1-prov2 ATPase, H+ transporting, lysosomal 70kDa, V1 subunit more 76.47(n)    BC044025.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635162 similar to ATPase, H+ transporting, lysosomal 70kDa, more 80.83(n)   394110  BC055130.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha68-11 Vacuolar H[+] ATPase subunit 68-1 69.17(n)
    83.2(a)
      45668  NM_078836.2  NP_523560.2 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-131 Protein VHA-13 69.26(n)
    81.59(a)
      3564970  NM_074158.3  NP_506559.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA1(YDL185W)4
    VMA11
    Subunit A of the eight-subunit V1 peripheral membrane more4
    Vma1p1
    60.11(n)1
    60.96(a)1
      4(126787-130002)4
    8513421, 4  NP_010096.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VHA-A1 V-type proton ATPase catalytic subunit A 63.83(n)
    69.89(a)
      844228  NM_106539.5  NP_178011.1 
    rice
    (Oryza sativa)
    Liliopsida AK067063.12   -- 75.81(n)    AK067063.1 


    ENSEMBL Gene Tree for ATP6V1A (if available)
    TreeFam Gene Tree for ATP6V1A (if available)

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

    (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) 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

    10/1115 SNPs in ATP6V1A are shown (see all 1115)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs784141861,2
    C,F--113467547(+) ATGCTC/TCTTAG 1 -- int11Minor allele frequency- T:0.02NA 120
    rs1916404671,2
    --113467655(+) CATACC/TGGACA 1 -- int10--------
    rs130776441,2
    C,F,H--113467777(+) GGGAAG/AAAAAA 1 -- int1 trp310Minor allele frequency- A:0.35NS EA NA WA CSA 664
    rs1480660171,2
    --113467903(+) ACCAGC/GTAGAA 1 -- int10--------
    rs729526601,2
    C,F--113467930(+) GGGAAA/GATGTC 1 -- int13Minor allele frequency- G:0.09WA 122
    rs789611981,2
    C,F--113468019(+) TTAGAC/TCACTG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1420075621,2
    C--113468111(+) CAGAT-/CACACAC 1 -- int10--------
    rs1417688821,2
    --113468257(+) CACTAC/TTAAAT 1 -- int10--------
    rs1471423751,2
    C--113468884(+) CTCTGC/TGTGAT 1 -- int10--------
    rs1837989021,2
    --113468892(+) GATCTA/GTAAGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ATP6V1A (113465866 - 113530905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATP6V1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2588841CNV Deletion19546169
    nsv829678CNV Loss17160897
    nsv877351CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1A
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607027    OMIM disorders: --

    13 diseases for ATP6V1A:    About MalaCards
    bone giant cell tumor    histoplasmosis    giant cell tumor    osteopetrosis
    batten disease    cholera    bipolar disorder    pneumonia
    schizophrenia    rheumatoid arthritis    arthritis    tuberculosis
    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for ATP6V1A:
    Giant cell tumor

    ATP6V1A for disorders           About GeneDecksing


    Export disorders for ATP6V1A 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

    PubMed articles for ATP6V1A gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with ATP6V1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma. (PubMed id 8463241)1, 2, 3 van Hille B.... Bilbe G. (1993)
    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. (2004)
    3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    4. The ubiquitous VA68 isoform of subunit A of the vacuolar H(+)-ATPase is highly expressed in human osteoclasts. (PubMed id 7575517)1, 9 van Hille B....Bilbe G. (1995)
    5. Identification of 23 new prostate cancer susceptibilit y loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Acidosis-induced V-ATPase trafficking in salivary duct s is initiated by cAMP/PKA/CREB pathway via regulation of Rab11b expression. (PubMed id 22561749)1 Oehlke O....Roussa E. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 523 HGNC: 851 AceView: ATP6V1A Ensembl:ENSG00000114573 euGenes: HUgn523
    ECgene: ATP6V1A Kegg: 523 H-InvDB: ATP6V1A

    (According to HUGE)
    About This Section
      --

    (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 ATP6V1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V1A gene:
    Search GeneIP for patents involving ATP6V1A

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Kits and Assays available from EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore small molecules (inhibitor) for ATP6V1A
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for ATP6V1A  
     OriGene qPCR primer pairs and template standards for ATP6V1A   OriGene Protein Over-expression Lysate for ATP6V1A  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ATP6V1A  
     OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1A   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for ATP6V1A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ATP6V1A   OriGene Custom Protein Services for ATP6V1A  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP6V1A
     QIAGEN SeqTarget long-range PCR primers for resequencing ATP6V1A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1A
     GenScript Custom Purified and Recombinant Proteins Services for ATP6V1A GenScript cDNA clones with any tag delivered in your preferred vector for ATP6V1A
     GenScript Custom Assay Services for ATP6V1A GenScript Superior Antibodies for ATP6V1A
     GenScript Custom overexpressing Cell Line Services for ATP6V1A 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

     Regulatory tfbs in ATP6V1A promoter
     Search Chromatin IP Primers for ATP6V1A
     RT2 qPCR Primer Assay in human, mouse, rat ATP6V1A
     Search GNC Networks for ATP6V1A
     SABiosciences Custom PCR Arrays for ATP6V1A
     Tocris compounds for ATP6V1A
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     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
     ATP6V1A antibodies
     ATP6V1A proteins
     ATP6V1A lysates
     Antibodies for ATP6V1A
     See all of Abcam's Antibodies, Kits and Proteins for ATP6V1A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ATP6V1A
     Antibodies for ATP6V1A
     ELISAs for ATP6V1A
     CLIAs for ATP6V1A
     Search LifeMap BioReagents cell lines for ATP6V1A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1A
     SwitchGear 3'UTR luciferase reporter plasmids for ATP6V1A
     SwitchGear Promoter luciferase reporter plasmids for ATP6V1A
     ThermoFisher Antibody for ATP6V1A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1A
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP6V1A
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATP6V1A
    Customized:
     lentivirus for stable overexpression of ATP6V1A
     lentivirus expression plasmids for stable overexpression of ATP6V1A
     adenovirus for overexpression of ATP6V1A
     LSBio Antibodies in human, mouse, rat for ATP6V1A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      ATP6V1A gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4