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

ATP6V0A1 Gene

protein-coding   GIFtS: 67
GCID: GC17P040610

ATPase, H+ Transporting, Lysosomal V0 Subunit A1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: VPP1, ATP6N1, ATP6N1A)
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 V0 Subunit A11 2     a12
ATP6N1A1 2 3 5     ATPase, H+ Transporting, Lysosomal Non-Catalytic Accessory Protein 1
(110/116kD)2
VPP11 2 3 5     H(+)-Transporting Two-Sector ATPase, 116 KDa Accessory Protein A12
ATP6N11 2 3     V-ATPase 116 KDa2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic
Accessory Protein 1A (110/116kD)1 2
     V-Type Proton ATPase 116 KDa Subunit A2
Clathrin-Coated Vesicle/Synaptic Vesicle Proton Pump 116 KDa Subunit2 3     V-Type Proton ATPase 116 KDa Subunit A Isoform 12
Vacuolar Adenosine Triphosphatase Subunit Ac1162 3     Vacuolar Proton Pump, Subunit 12
Vacuolar Proton Pump Subunit 12 3     Vacuolar Proton Translocating ATPase 116 KDa Subunit A2
ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 11     Vacuolar-Type H(+)-ATPase 115 KDa Subunit2
Stv12     V-ATPase 116 KDa Isoform A13
Vph12     Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 13

External Ids:    HGNC: 8651   Entrez Gene: 5352   Ensembl: ENSG000000336277   OMIM: 1921305   UniProtKB: Q930503   

Export aliases for ATP6V0A1 gene to outside databases

Previous GC identifers: GC17M040234 GC17M042848 GC17P040519 GC17P040984 GC17P037864 GC17P036375


(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 ATP6V0A1 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 gene encodes one of three A subunit proteins and the encoded protein is
associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V0A1 Gene: 
ATP6V0A1 (ATPase, H+ transporting, lysosomal V0 subunit a1) is a protein-coding gene. Diseases associated with ATP6V0A1 include fabry disease, and osteopetrosis, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and ATPase binding. An important paralog of this gene is ATP6V0A2.

UniProtKB/Swiss-Prot: VPP1_HUMAN, Q93050
Function: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and
regulation of the enzyme for a specific organelle (By similarity)

summary for ATP6V0A1 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 ATP6V0A1 (ATPase, H+ transporting, lysosomal V0 subunit a1) 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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V0A1 gene promoter:
         HOXA9B   HOXA9   NRSF form 1   FOXD3   Olf-1   E4BP4   NRSF form 2   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V0A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0A1


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

ATP6V0A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0A1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040610:  view genomic region     (about GC identifiers)

Start:
40,610,862 bp from pter      End:
40,674,629 bp from pter
Size:
63,768 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: VPP1_HUMAN, Q93050 (See protein sequence)
Recommended Name: V-type proton ATPase 116 kDa subunit a isoform 1  
Size: 837 amino acids; 96413 Da
Subunit: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a
membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector
comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''
Subcellular location: Cytoplasmic vesicle membrane; Multi-pass membrane protein. Melanosome. Note=Coated vesicle.
Identified by mass spectrometry in melanosome fractions from stage I to stage IV
Secondary accessions: B7Z3B7 Q8N5G7 Q9NSX0
Alternative splicing: 3 isoforms:  Q93050-2   Q93050-1   Q93050-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP6V0A1: NX_Q93050

Explore proteomics data for ATP6V0A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q93050

  • ATP6V0A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V0A1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001123492.1  NP_001123493.1  NP_005168.2  

    ENSEMBL proteins: 
     ENSP00000377415   ENSP00000468001   ENSP00000443991   ENSP00000264649   ENSP00000466878  
     ENSP00000342951   ENSP00000467373   ENSP00000466328   ENSP00000466290   ENSP00000466767  
     ENSP00000468169   ENSP00000468177   ENSP00000466852   ENSP00000444676   ENSP00000446377  
    Reactome Protein details: Q93050
    Human Recombinant Protein Products for ATP6V0A1: 
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    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:0000220vacuolar proton-transporting V-type ATPase, V0 domain IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    ATP6V0A1 for ontologies           About GeneDecksing



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    (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: a1 
    V-type ATPase

    2 InterPro protein domains:
     IPR026028 V-type_ATPase_116kDa_su_euka
     IPR002490 V-ATPase_116kDa_su

    Graphical View of Domain Structure for InterPro Entry Q93050

    ProtoNet protein and cluster: Q93050

    1 Blocks protein domain: IPB002490 V-type ATPase

    UniProtKB/Swiss-Prot: VPP1_HUMAN, Q93050
    Similarity: Belongs to the V-ATPase 116 kDa subunit family


    ATP6V0A1 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: VPP1_HUMAN, Q93050
    Function: Required for assembly and activity of the vacuolar ATPase. Potential role in differential targeting and
    regulation of the enzyme for a specific organelle (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12649290
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
    GO:0051117ATPase binding IPI17360703
         
    ATP6V0A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP6V0A1:
     Decreased Tat-dependent transc 

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    (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 ATP6V0A1 About   (see all 12)                                                                                              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 ATP6V0A1 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/10         Kegg Pathways  (Kegg details for ATP6V0A1) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP6V0A1

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

    5/122 Interacting proteins for ATP6V0A1 (Q930503 ENSP000002646494) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V0D1P614213, ENSP000002909494I2D: score=6 STRING: ENSP00000290949
    ATP6V1DQ9Y5K83, ENSP000002164424I2D: score=5 STRING: ENSP00000216442
    ATP6V1FQ168643, ENSP000002492894I2D: score=5 STRING: ENSP00000249289
    ATP6V1B2P212813, ENSP000002763904I2D: score=3 STRING: ENSP00000276390
    ATP6V1E1P365433, ENSP000002534134I2D: score=2 STRING: ENSP00000253413
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--

    ATP6V0A1 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 ATP6V0A1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V0A1 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]

    Search CenterWatch for drugs/clinical trials and news about ATP6V0A1 / VPP1

    (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 ATP6V0A1 gene (3 alternative transcripts): 
    NM_001130020.1  NM_001130021.1  NM_005177.3  

    Unigene Cluster for ATP6V0A1:

    ATPase, H+ transporting, lysosomal V0 subunit a1
    Hs.463074  [show with all ESTs]
    Unigene Representative Sequence: AK125927
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000393829(uc002hzp.1) ENST00000588629 ENST00000588901 ENST00000537728
    ENST00000264649(uc002hzs.3 uc010wgl.2) ENST00000585525 ENST00000343619(uc002hzr.3 uc002hzq.3 uc010wgj.2 uc010wgk.2 uc010cyg.3)
    ENST00000589727 ENST00000587824 ENST00000589213 ENST00000592324 ENST00000587375
    ENST00000586001 ENST00000587882 ENST00000589759 ENST00000586315 ENST00000587510
    ENST00000586201
    Congresses - knowledge worth sharing:  
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    Additional mRNA sequence: 

    AB074282.1 AK098213.1 AK125927.1 AK223554.1 AK294512.1 AK294789.1 AK295682.1 AK299784.1 
    AK316305.1 AL096733.1 AL137683.1 BC032398.1 BX648978.1 CR627443.1 L78933.1 U18920.1 
    Z71460.1 

    24/32 DOTS entries (see all 32):

    DT.97847533  DT.99968144  DT.100036891  DT.120965912  DT.100796461  DT.100796468  DT.100796467  DT.40115333 
    DT.448618  DT.91754379  DT.101956252  DT.120965924  DT.91908825  DT.40201424  DT.97795950  DT.120965892 
    DT.91822904  DT.120965895  DT.120965925  DT.99978987  DT.100683828  DT.120965887  DT.120965910  DT.120965930 

    24/342 AceView cDNA sequences (see all 342):

    Z38537 AK098213 BM930240 BM671001 AU119028 BQ008516 T07858 T27156 
    BM697563 BC032398 CF995076 AA974587 CR627443 BM709693 AU139152 BP347705 
    BF195833 BE312004 BX954010 AL137683 CB142639 BQ027467 BQ720016 BQ717475 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A1 (see all 11)    About this scheme

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

    ExUns: 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c · 23d · 23e · 23f
    SP1:  -           -                 -     -     -     -                                       
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for ATP6V0A1

    (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

    ATP6V0A1 expression in normal human tissues (normalized intensities)      ATP6V0A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTGTGAG
    ATP6V0A1 Expression
    About this image


    ATP6V0A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             PERIPHERAL NERVOUS SYSTEM   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             bone marrow-derived macrophages   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   

    See ATP6V0A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V0A1

    SOURCE GeneReport for Unigene cluster: Hs.463074
        SABiosciences Custom PCR Arrays for ATP6V0A1
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V0A1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v0a11 , 5 ATPase, H+ transporting, lysosomal V0 subunit A11, 5 89.05(n)1
    96.27(a)1
      11 (64.04 cM)5
    119751  NM_001243051.11  NP_001229980.11 
     1010094525 
    chicken
    (Gallus gallus)
    Aves ATP6V0A11 ATPase, H+ transporting, lysosomal V0 subunit a1 81.12(n)
    92.11(a)
      395474  NM_204724.1  NP_990055.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0A16
    Uncharacterized protein
    89(a)
    1 ↔ 1
    6(72357822-72403692)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp6v0a1-prov2 ATPase, H+ transporting, lysosomal V0 subunit a isoform more 77.52(n)    BC041732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v0a1b6
    atp6v0a1a6
    ATPase, H+ transporting, lysosomal V0 subunit a is...
    ATPase, H+ transporting, lysosomal V0 subunit a is...
    84(a)
    82(a)
    1 ↔ many
    1 ↔ many
    24(7709398-7745576)
    3(16542207-16593106)
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha100-11 , 3 hydrogen-transporting two-sector
    ATPase3
    Vacuolar H[+] ATPase subunit 100-11
    60(a)
    (best of 4)3
    61.67(n)1
    63.39(a)1
      98F123
    434421  NM_001170297.11  NP_001163768.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK637.8f3
    unc-321
    TJ6/proton pump3
    Protein UNC-321
    57(a)
    (best of 7)3
    61.29(n)1
    60.73(a)1
      1762571  NM_001027846.11  NP_001023017.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPH1(YOR270C)4
    VPH11
    Subunit a of vacuolar-ATPase V0 domain, one of two more4
    Vph1p1
    50.9(n)1
    44.4(a)1
      15(830574-828052)4
    8544441, 4  NP_014913.31  NP_014913.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VHA-A11 V-type H+-transporting ATPase subunit I 52.06(n)
    43.69(a)
      817400  NM_179791.1  NP_850122.1 
    rice
    (Oryza sativa)
    Liliopsida Os.280562 Oryza sativa SS281 mRNA for T cell produced protein, more 71.01(n)    NM_195204.1 


    ENSEMBL Gene Tree for ATP6V0A1 (if available)
    TreeFam Gene Tree for ATP6V0A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V0A1 gene
    ATP6V0A22  TCIRG12  ATP6V0A42  
    18/44 SIMAP similar genes for ATP6V0A1 using alignment to 13 protein entries:     VPP1_HUMAN (see all proteins) (see all similar genes):
    DKFZp781J1951    SHANK2    ZNF461    DKFZp686N0561    AEBP2    AURA2
    NSRP1    DNMT1    PLA2G6    CHID1    DCTN5    RNF217
    ZNF738    LYRM4    ATP6V0A4    ZNF83    PLEKHH2    ZNF737

    ATP6V0A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/1079 SNPs in ATP6V0A1 are shown (see all 1079)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381229631,2
    C--40609072(+) TGGGT-/CCCGAT 3 -- us2k10--------
    rs1874913931,2
    C--40609115(+) CAGGGA/CGAAGG 3 -- us2k10--------
    rs796922721,2
    --40609364(+) CACCCA/TGGAAG 3 -- us2k10--------
    rs98977021,2
    C,F,A,H--40609405(+) GATACG/AATTCT 3 -- us2k130Minor allele frequency- A:0.21EA NA NS WA CSA 2558
    rs1129751241,2
    C--40609470(+) GAATCA/GATATC 3 -- us2k10--------
    rs1118756631,2
    C--40609490(+) TAATGA/GCATTT 3 -- us2k10--------
    rs2010139101,2
    C--40609563(+) GAGTAA/CAAGCC 3 -- us2k10--------
    rs1512857781,2
    --40609601(+) AGGAAC/TTGAAA 3 -- us2k10--------
    rs1417546171,2
    C--40609713(+) AAAAT-/AGACCC 3 -- us2k10--------
    rs169677941,2
    C,F--40609781(+) TATGCA/GAATGA 3 -- us2k1 tfbs36Minor allele frequency- G:0.10NA WA EA 500

    HapMap Linkage Disequilibrium report for ATP6V0A1 (40610862 - 40674629 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATP6V0A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908255CNV Loss21882294
    nsv827995CNV Loss20364138
    dgv3172n71CNV Loss21882294
    nsv908249CNV Loss21882294
    nsv470586CNV Gain18288195
    esv33998OTHER Inversion15654335


    Human Gene Mutation Database (HGMD): ATP6V0A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V0A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0A1

    (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: 192130    OMIM disorders: --

    12 diseases for ATP6V0A1:    About MalaCards
    fabry disease    osteopetrosis    renal tubular acidosis    epididymitis
    hepatoblastoma    cholera    pneumonia    hypertension
    rheumatoid arthritis    arthritis    tuberculosis    colorectal cancer


    ATP6V0A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP6V0A1
    Human Genome Epidemiology (HuGE) Navigator: ATP6V0A1 (2 documents)

    Export disorders for ATP6V0A1 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 ATP6V0A1 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with ATP6V0A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel loci for major depression identified by genome- wide association study of Sequenced Treatment Alternatives to Relieve Depressio n and meta-analysis of three studies. (PubMed id 20038947)1, 4 Shyn S.I....Hamilton S.P. (2009)
    2. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    3. 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)
    4. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (2003)
    5. Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17. (PubMed id 7774924)1, 3 Brody L.C....Xu J. (1995)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    8. Inhibition of lysosome degradation on autophagosome fo rmation and responses to GMI, an immunomodulatory protein from Ganoderma microsp orum. (PubMed id 22708544)1 Hsin I.L....Ko J.L. (2012)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. A common genetic variant in the 3'-UTR of vacuolar H+ -ATPase ATP6V0A1 creates a micro-RNA motif to alter chromogranin A processing a nd hypertension risk. (PubMed id 21558123)1 Wei Z....O'Connor D.T. (2011)

    (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: 535 HGNC: 865 AceView: ATP6V0A1 Ensembl:ENSG00000033627 euGenes: HUgn535
    ECgene: ATP6V0A1 Kegg: 535 H-InvDB: ATP6V0A1

    (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 ATP6V0A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP6V0A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V0A1 gene:
    Search GeneIP for patents involving ATP6V0A1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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