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ATP6V1A Gene

protein-coding   GIFtS: 66
GCID: GC03P113465

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

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: VPP2, ATP6A1, ATP6V1A1)
  See ATP6V1A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+ Transporting, Lysosomal 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 histoplasmosis. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 Chromatin IP Primers for ATP6V1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 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: 

  • Ubiquitination2 at Lys467, Lys580
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP6V1A (P38606) (see all 52)
     ELGPGIM  SVELGPG  NWLISYS  LSKYSNS 


    See ATP6V1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001681.2  
    ENSEMBL proteins: 
     ENSP00000273398   ENSP00000420146   ENSP00000417545   ENSP00000419294   ENSP00000439874  
    Reactome Protein details: P38606

    ATP6V1A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ATP6V1A

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

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

    Selected InterPro protein domains (see all 8):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_F1_a/bsu_N
     IPR020003 ATPase_a/bsu_AS
     IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd
     IPR005725 ATPase_V1-cplx_asu

    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


    Find genes that share domains with ATP6V1A           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with ATP6V1A           About GenesLikeMe


    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: Let us create your new Knockout/Knockin mouse model for ATP6V1A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP6V1A
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    miRNA
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    miRTarBase miRNAs that target ATP6V1A:
    hsa-mir-361-5p (MIRT044054), hsa-mir-26b-5p (MIRT029234), hsa-mir-1 (MIRT023734)

    Block miRNA regulation of human, mouse, rat ATP6V1A using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP6V1A

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    mitochondrion2
    chloroplast1
    cytoskeleton1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

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

    Find genes that share ontologies with ATP6V1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6V1A 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


    Find genes that share SuperPaths with ATP6V1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for ATP6V1A
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1A
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1A

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

    Selected Interacting proteins for ATP6V1A (P386062, 3 ENSP000002733984) via UniProtKB, MINT, STRING, and/or I2D (see all 365)
    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): Selected biological process terms (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 ----

    Find genes that share ontologies with ATP6V1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    7 ApexBio Compounds for ATP6V1A     About this table
    CompoundAction CAS #
    DynasoreNon-competitive inhibitor of dynamin 1, dynamin 2 and mitochondrial dynamin (Drp1) GTPase activity. [304448-55-3]
    Oligomycin AInhibitor of mitochondrial ATP synthase and uncoupler of oxidative phosphorylation[579-13-5]
    Omecamtiv mecarbilCardiac specific myosin activator, targets and activates myocardial ATPase[873697-71-3]
    PF-03716556potent, and selective acid pump antagonist[928774-43-0]
    Sodium Orthovanadatealkaline phosphatase (ALP) and ATPase[13721-39-6]
    TAK-438novel P-CAB type antisecretory agent[1260141-27-2]
    Tipifarnib (Zarnestra)Farnesyltransferase (Ftase) inhibitor[192185-72-1]

    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



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR 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
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1A
      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 

    Selected AceView cDNA sequences (see all 367):

    AW514596 CA423005 BM459786 AA740583 AA877168 CA437151 AI537906 BQ015557 
    AI669434 AI285175 BM989311 AW511895 AA922284 AL514316 CB054430 BG167129 
    AA903159 BQ878636 AI809707 BU153529 BQ881294 BQ071085 BQ213562 BM800444 

    GeneLoc Exon Structure

    Selected 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™, 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

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    ATP6V1A expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    ATP6V1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477155

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

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

    Orthologs for ATP6V1A gene from Selected 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
    ATPase, H+ transporting, lysosomal 70kDa, V1 subun...
    94(a)
    1 ↔ 1
    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 69.11(n)
    83.06(a)
      45668  NM_078836.3  NP_523560.2 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-131 vha-13 69.26(n)
    81.59(a)
      3564970  NM_074158.4  NP_506559.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA1(YDL185W)4
    VMA11
    Subunit A of the eight-subunit V1 peripheral membrane more4
    VMA11
    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 VHA-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

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      --

    (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

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    Selected SNPs for ATP6V1A (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 607027    OMIM disorders: --

    1 disease for ATP6V1A:    
    About MalaCards
    histoplasmosis

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

    Find genes that share disorders with ATP6V1A           About GenesLikeMe


    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)
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    PubMed articles for ATP6V1A gene, integrated from 10 sources (see all 57):
    (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. (J. Biol. Chem. 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Biochem. Biophys. Res. Commun. 1995)
    5. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    8. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    9. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    10. Acidosis-induced V-ATPase trafficking in salivary ducts is initiated by cAMP/PKA/CREB pathway via regulation of Rab11b expression. (PubMed id 22561749)1 Oehlke O....Roussa E. (amp 2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 523 HGNC: 851 AceView: ATP6V1A Ensembl:ENSG00000114573 euGenes: HUgn523
    ECgene: ATP6V1A Kegg: 523 H-InvDB: ATP6V1A

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

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    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.)
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    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



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