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ATP6V0D1 Gene

protein-coding   GIFtS: 66
GCID: GC16M067471

ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbol: ATP6D)
  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)
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Aliases
ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D11 2     ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D Isoform 11
ATP6D1 2 3     ATP6DV2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member D1 2     P392
V-ATPase 40 KDa Accessory Protein2 3     VATX2
Vacuolar Proton Pump Subunit D 12 3     VMA62
32 KDa Accessory Protein2 3     H(+)-Transporting Two-Sector ATPase, Subunit D2
VPATPD2 3     V-ATPase, Subunit D2
V-ATPase AC39 Subunit2 3     V-Type Proton ATPase Subunit D 12
V-ATPase Subunit D 12 3     p393

External Ids:    HGNC: 137241   Entrez Gene: 91142   Ensembl: ENSG000001597207   OMIM: 6070285   UniProtKB: P614213   

Export aliases for ATP6V0D1 gene to outside databases

Previous GC identifers: GC16M058166 GC16M067849 GC16M067207 GC16M067248 GC16M066029 GC16M053345


(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 ATP6V0D1 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 known as the D subunit and is found ubiquitously. (provided
by RefSeq, Jul 2008)

GeneCards Summary for ATP6V0D1 Gene:
ATP6V0D1 (ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1) is a protein-coding gene. Diseases associated with ATP6V0D1 include osteopetrosis, and renal tubular acidosis. GO annotations related to this gene include protein complex binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V0D2.

UniProtKB/Swiss-Prot: VA0D1_HUMAN, P61421
Function: Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for
acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy
required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP
hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the
localization of proteins to the cilium (By similarity)

summary for ATP6V0D1 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 ATP6V0D1 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:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V0D1 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0D1 promoter sequence
   Search Chromatin IP Primers for ATP6V0D1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V0D1


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22

ATP6V0D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0D1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M067471:  view genomic region     (about GC identifiers)

Start:
67,471,917 bp from pter      End:
67,515,140 bp from pter
Size:
43,224 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VA0D1_HUMAN, P61421 (See protein sequence)
Recommended Name: V-type proton ATPase subunit d 1  
Size: 351 amino acids; 40329 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H)
attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d)
Sequence caution: Sequence=CAA50591.1; Type=Frameshift; Positions=22, 25, 64, 66;
Secondary accessions: P12953 Q02547

Explore the universe of human proteins at neXtProt for ATP6V0D1: NX_P61421

Explore proteomics data for ATP6V0D1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys265, Lys275, Lys288, Lys343
  • Modification sites at PhosphoSitePlus

  • See ATP6V0D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004682.2  
    ENSEMBL proteins: 
     ENSP00000290949   ENSP00000463328   ENSP00000393910   ENSP00000441282   ENSP00000457744  
     ENSP00000457105   ENSP00000455802   ENSP00000455446   ENSP00000456695   ENSP00000455695  
     ENSP00000457104   ENSP00000473515  
    Reactome Protein details: P61421

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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: d1
    V-type ATPase

    2 InterPro protein domains:
     IPR002843 ATPase_V0-cplx_csu/dsu
     IPR016727 ATPase_V0-cplx_dsu

    Graphical View of Domain Structure for InterPro Entry P61421

    ProtoNet protein and cluster: P61421

    UniProtKB/Swiss-Prot: VA0D1_HUMAN, P61421
    Similarity: Belongs to the V-ATPase V0D/AC39 subunit family


    ATP6V0D1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VA0D1_HUMAN, P61421
    Function: Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for
    acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy
    required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP
    hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the
    localization of proteins to the cilium (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18752060
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0015078hydrogen ion transmembrane transporter activity ----
    GO:0032403protein complex binding IEA--
         
    ATP6V0D1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ATP6V0D1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased viability 
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Atp6v0d1):
     mortality/aging 

    ATP6V0D1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Agrp/Atp6v0d1Agrp/tm1Rpa for ATP6V0D1

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    5 qRT-PCR Assays for microRNAs that regulate ATP6V0D1:
    hsa-miR-1266 hsa-miR-1321 hsa-miR-612 hsa-miR-1285 hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidATP6V0D1 3' UTR sequence
    Inhib. RNA
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    (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 UniProtKB/Swiss-Prot
    VA0D1_HUMAN, P61421: Membrane; Peripheral membrane protein; Cytoplasmic side (Probable). Note=Localizes to
    centrosome and the base of the cilium
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    vacuole5
    endosome4
    cytosol3
    cytoskeleton2
    plasma membrane2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005769early endosome IEA--
    GO:0005813colocalizes with centrosome IDA--
    GO:0008021synaptic vesicle IEA--
    GO:0010008endosome membrane TAS--

    ATP6V0D1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6V0D1 About   (see all 15)  
    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
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    3Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4 Reactome Pathways for ATP6V0D1
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    XBP1(S) activates chaperone genes
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V0D1) (see all 11):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0D1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V0D1
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V0D1

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

    Selected Interacting proteins for ATP6V0D1 (P614212, 3 ENSP000002909494) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2865933 I2D: score=3 STRING: ENSP00000244769
    SLC25A6P122362, 3MINT-4054731 I2D: score=1 
    ENSG00000206286Q8N1B43I2D: score=5 
    ENSG00000224455Q8N1B43I2D: score=5 
    ENSG00000225590Q8N1B43I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007420brain development IEA--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--

    ATP6V0D1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ATP6V0D1 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 ATP6V0D1    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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP6V0D1 gene: 
    NM_004691.4  

    Unigene Cluster for ATP6V0D1:

    ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
    Hs.106876  [show with all ESTs]
    Unigene Representative Sequence: AK128641
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000568620 ENST00000290949(uc010vjn.1 uc002ete.1 uc010vjo.1)
    ENST00000563305 ENST00000565835 ENST00000426604 ENST00000540149 ENST00000567694
    ENST00000561852 ENST00000563064 ENST00000564615 ENST00000567170 ENST00000566322
    ENST00000564191 ENST00000564788 ENST00000568101 ENST00000561658 ENST00000568298
    ENST00000602876
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    Additional mRNA sequence: 

    AK128641.1 AK300570.1 AK301630.1 AK313035.1 BC008861.2 L05087.1 

    Selected DOTS entries (see all 26):

    DT.100848876  DT.451758  DT.100033987  DT.100848890  DT.91769850  DT.100848874  DT.100848878  DT.120709856 
    DT.120709879  DT.91769847  DT.91827719  DT.95168677  DT.95232048  DT.100848891  DT.120709813  DT.120709833 
    DT.120709848  DT.120709889  DT.92010857  DT.92016052  DT.100703092  DT.100829581  DT.100848881  DT.120709886 

    Selected AceView cDNA sequences (see all 496):

    BM819931 CR594427 BX427085 BM919916 BM980259 AL538206 L05087 BQ641855 
    BM998022 BQ929474 BF531072 CR609191 BM714739 CA413722 BX397390 NM_004691 
    CR618424 AI143286 CA395494 BQ279012 BM476448 BQ052484 BU188036 CR624642 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0D1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11
    SP1:                    -     -     -     -           -           -                                       
    SP2:                    -     -           -           -           -                                       
    SP3:                    -     -     -     -           -     -     -                                       
    SP4:                                -     -           -           -                                       
    SP5:                                      -                                                               


    ECgene alternative splicing isoforms for ATP6V0D1

    (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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    ATP6V0D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAGGACAG
    ATP6V0D1 Expression
    About this image


    ATP6V0D1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    ATP6V0D1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V0D1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.106876

    UniProtKB/Swiss-Prot: VA0D1_HUMAN, P61421
    Tissue specificity: Ubiquitous

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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 ATP6V0D1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v0d11 , 5 ATPase, H+ transporting, lysosomal V0 subunit D11, 5 90.12(n)1
    99.72(a)1
      8 (53.04 cM)5
    119721  NM_013477.31  NP_038505.21 
     1055244655 
    chicken
    (Gallus gallus)
    Aves ATP6V0D11 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit more 84.05(n)
    96.58(a)
      415674  XM_414041.3  XP_414041.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0D16
    ATPase, H+ transporting, lysosomal 38kDa, V0 subun...
    86(a)
    1 ↔ 1
    GL344971.1(40-7820)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp6d-prov2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit more 76.83(n)    BC042233.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb73h072 wufb73h07 74.91(n)   322811  BC056822.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta VhaAC393
    VhaAC39-11
    proton transport hydrogen-translocating
    V-type more3
    Vacuolar H[+] ATPase subunit AC39-11
    81(a)
    (best of 2)3
    76.68(n)1
    81.34(a)1
      3F43
    313421  NM_130724.31  NP_570080.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C30F8.23
    vha-161
    vaculolar ATPase3
    vha-161
    75(a)3
    67.83(n)1
    75.07(a)1
      I(5080314-5082261)3
    1721341  NM_059114.41  NP_491515.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA6(YLR447C)4
    VMA61
    Subunit d of the five-subunit V0 integral membrane more4
    VMA61
    52.96(n)1
    47.34(a)1
      12(1027893-1026856)4
    8511681, 4  NP_013552.31  NP_013552.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G287101 AT3G28710 55.72(n)
    51.3(a)
      822502  NM_113791.3  NP_189512.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05870001 Os01g0587000 57.82(n)
    52.48(a)
      4327660  NM_001049964.1  NP_001043429.1 


    ENSEMBL Gene Tree for ATP6V0D1 (if available)
    TreeFam Gene Tree for ATP6V0D1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V0D1 gene
    ATP6V0D22  
    1 SIMAP similar gene for ATP6V0D1 using alignment to 13 protein entries:     VA0D1_HUMAN (see all proteins):
    ATP6V0D2

    ATP6V0D1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP6V0D1 (see all 750)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3700811111,2
    C--67472373(+) ACGCG-/CA/GC 
            
    CACAC
    3 -- ut310--------
    rs603800081,2
    C--67487127(+) TGACT-/TGGGGG 1 -- int10--------
    rs563873661,2
    C,F--68477730(+) TGGCCG/ATGTGA 1 -- ds50013Minor allele frequency- A:0.01NS WA 212
    rs561895601,2
    C,F--68477769(+) GGAGGC/GTGGGA 1 -- ds50013Minor allele frequency- G:0.00NS 1206
    rs558202381,2
    C,F--68477771(+) AGGCTG/CGGATT 1 -- ds50013Minor allele frequency- C:0.00NS 1206
    rs99316121,2
    C,F,H--68477918(+) GGGGGC/ACTCCA 1 -- ds500114Minor allele frequency- A:0.18NS NA WA 2642
    rs1512994861,2
    C--68478045(+) GTGGAC/GGCTTA 1 -- ds50010--------
    rs561222661,2
    C,F--68478074(+) GGTGGG/AGTCAC 1 -- ds50014Minor allele frequency- A:0.04NS NA 1312
    rs1416739371,2
    --68478121(+) TAAACA/GAGACA 1 -- ds50010--------
    rs563004091,2
    C,F--68478123(+) AACGAG/CACAGC 1 -- ds50015Minor allele frequency- C:0.10NS WA 1312

    HapMap Linkage Disequilibrium report for ATP6V0D1 (67471917 - 67515140 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ATP6V0D1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2247849CNV Deletion18987734
    esv2714648CNV Deletion23290073
    esv2678491CNV Deletion23128226
    esv2622215CNV Deletion19546169
    nsv524363CNV Loss19592680
    nsv833266CNV Loss17160897
    nsv471092CNV Gain18288195
    nsv522852CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 607028    OMIM disorders: --

    13 diseases for ATP6V0D1:    
    About MalaCards
    osteopetrosis    renal tubular acidosis    transient cerebral ischemia    cholera
    ischemia    cerebritis    tuberculosis    rheumatoid arthritis
    schizophrenia    arthritis    ataxia    malaria
    neuronitis


    ATP6V0D1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP6V0D1
    Human Genome Epidemiology (HuGE) Navigator: ATP6V0D1 (3 documents)

    Export disorders for ATP6V0D1 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 ATP6V0D1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with ATP6V0D1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PubMed id 8250920)1, 2, 3 van Hille B.... Bilbe G. (Biochem. Biophys. Res. Commun. 1993)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    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. (Genome Res. 2004)
    4. Structure of the VPATPD gene encoding subunit D of the human vacuolar proton ATPase. (PubMed id 11118322)1, 2 Agarwal A.K. and White P.C. (Biochem. Biophys. Res. Commun. 2000)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. (PubMed id 21844891)2 Chen Y.... Pei D. (Cell Res. 2012)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. 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)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 9114 HGNC: 13724 AceView: ATP6V0D1 Ensembl:ENSG00000159720 euGenes: HUgn9114
    ECgene: ATP6V0D1 Kegg: 9114 H-InvDB: ATP6V0D1

    (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 ATP6V0D1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for ATP6V0D1 gene:
    Search GeneIP for patents involving ATP6V0D1

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



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