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

ATP6V0D1 Gene

protein-coding   GIFtS: 60
GCID: GC16M067471

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbol: ATP6D)
 Explore 13 diseases affiliated with
ATP6V0D1 via our new
 Human Malady Compendium 
Biological research products
for ATP6V0D1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D11 2     V-ATPase AC39 Subunit2 3
ATP6D1 2 3     V-ATPase Subunit D 12 3
VPATPD1 2 3     Vma61
ATP6DV1 2     ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D Isoform 11
P391 2     VMA62
VATX1 2     H(+)-Transporting Two-Sector ATPase, Subunit D2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member D1 2     V-ATPase, Subunit D2
V-ATPase 40 KDa Accessory Protein2 3     V-Type Proton ATPase Subunit D 12
Vacuolar Proton Pump Subunit D 12 3     P391 2
32 KDa Accessory Protein2 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP6V0D1:
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)

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)

summary for ATP6V0D1:
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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V0D1 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P61421

  • ATP6V0D1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004682.2  
    ENSEMBL proteins: 
     ENSP00000290949   ENSP00000463328   ENSP00000393910   ENSP00000441282   ENSP00000457744  
     ENSP00000457105   ENSP00000455802   ENSP00000455446   ENSP00000456695   ENSP00000455695  
     ENSP00000457104  
    Reactome Protein details: P61421
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP6V0D1 Proteins
    Novus Biologicals ATP6V0D1 Lysate
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    Uscn Proteins for ATP6V0D1

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005769early endosome IEA--
    GO:0008021synaptic vesicle IEA--
    GO:0010008endosome membrane TAS--
    GO:0016020membrane IDA18752060
    GO:0016324apical plasma membrane IEA--


    ATP6V0D1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V0D1


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

    ATP6V0D1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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)

    miRNA
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    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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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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


    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 

    Animal Models:
         Mouse knock-out Agrp/Atp6v0d1Agrp/tm1Rpa for ATP6V0D1
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Atp6v0d1):
     mortality/aging 

    ATP6V0D1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    Insulin receptor recycling1.00
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Iron uptake and transport0.56
    Collecting duct acid secretion0.68
    Vibrio cholerae infection0.41
    Phagosomal maturation (early endosomal stage)0.64
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperone Genes by XBP1(S)1.00
    Unfolded Protein Response0.71
    Activation of Chaperones by IRE1alpha0.94
    3Disease
    Disease1.00
    4Expression of ATP6VOD1
    Expression of ATP6VOD11.00
    5Rheumatoid arthritis
    Rheumatoid arthritis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/14        Reactome Pathways for ATP6V0D1 (see all 14)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/9         Kegg Pathways  (Kegg details for ATP6V0D1) (see all 9):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Collecting duct acid secretion


    ATP6V0D1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V0D1

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

    5/146 Interacting proteins for ATP6V0D1 (P614212, 3 ENSP000002909494) via UniProtKB, MINT, STRING, and/or I2D (see all 146)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2865933 I2D: score=3 STRING: ENSP00000244769
    SLC25A6P122362, 3MINT-4054731 I2D: score=1 
    ATP6V1B2P212812, 3, ENSP000002763904MINT-4054731 I2D: score=5 STRING: ENSP00000276390
    ATP6V1E1P365433, ENSP000002534134I2D: score=7 STRING: ENSP00000253413
    ATP6V1FQ168643, ENSP000002492894I2D: score=6 STRING: ENSP00000249289
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V0D1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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--
    Search CenterWatch for drugs/clinical trials and news about ATP6V0D1 / VA0D1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
    17 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


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    hsa-miR-1266 hsa-miR-1321 hsa-miR-612 hsa-miR-1285 hsa-miR-3162-5p
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    Additional cDNA sequence: 

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

    24/26 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 

    24/496 AceView cDNA sequences (see all 496):

    BE909017 BQ672560 CR599418 AA720599 BQ881392 CD366809 BU687213 CR599242 
    AA353924 CR619627 CR602420 AA299165 T28849 AI143286 BE266646 BP338597 
    CR615039 BM556356 BU153221 AK125522 CR622440 BE266747 BU944156 CR606968 

    GeneLoc Exon Structure

    5/8 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™, 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

    ATP6V0D1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAAGGACAG

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

    About this image
    See ATP6V0D1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V0D1

    SOURCE GeneReport for Unigene cluster: Hs.106876

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

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    In Situ
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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 ATP6V0D1 gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATP6V0D11 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit more 84.05(n)
    96.58(a)
      415674  XM_414041.2  XP_414041.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0D16
    --
    98(a)
    1 ↔ 1
    GL344971.1(254-6689)
    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
    Protein VHA-161
    75(a)3
    67.83(n)1
    75.07(a)1
      I(5080314-5082261)3
    1721341  NM_059114.31  NP_491515.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA6(YLR447C)4
    VMA61
    Subunit d of the five-subunit V0 integral membrane more4
    Vma6p1
    52.86(n)1
    47.34(a)1
      12(1027893-1026856)4
    8511681, 4  NP_013552.31  NP_013552.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G287101 V-type proton ATPase subunit d1 55.81(n)
    51.45(a)
      822502  NM_113791.3  NP_189512.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05870001 hypothetical protein 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)
    About This Section
    Paralogs for ATP6V0D1 gene
    ATP6V0D22  
    1 SIMAP similar gene for ATP6V0D1 using alignment to 12 protein entries:     VA0D1_HUMAN (see all proteins):
    ATP6V0D2

    ATP6V0D1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/550 NCBI SNPs in ATP6V0D1 are shown (see all 550    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs562946311,2
    C,--53345404(+) CCTAAG/CAACAG 1 -- ut316Minor allele frequency- C:0.14NS CSA WA NA 1445
    rs726501321,2
    C,F,--53345451(+) GACAGC/TGTACT 1 -- ut311Minor allele frequency- T:0.00NS 1104
    rs561237371,2
    C,F,--53345464(+) ACCCCG/AGACAG 1 -- ut313Minor allele frequency- A:0.00NS 1210
    rs726501331,2
    F--53345527(+) CGCGCA/GCACAC 1 -- ut311Minor allele frequency- G:0.03NS 1020
    rs726501341,2
    F--53345548(+) ACACAA/CAGAGT 1 -- ut311Minor allele frequency- C:0.00NS 1022
    rs1124206761,2
    C--53345842(+) AGACTC/G/TACCTC 1 -- int11CSA 1
    rs726501361,2
    F--53345969(+) GGGTGG/AGGGTG 1 -- int11Minor allele frequency- A:0.03NS 1102
    rs726501371,2
    F--53345970(+) GGTGGG/AGGTGC 1 -- int11Minor allele frequency- A:0.04NS 1108
    rs726501381,2
    F--53345971(+) GTGGGG/AGTGCT 1 -- int11Minor allele frequency- A:0.00NS 1108
    rs343895241,2
    C--53346181(+) GAAGGC/TGCGGC 2 T A mis13Minor allele frequency- T:0.01NA 80

    HapMap Linkage Disequilibrium report for ATP6V0D1 (67471917 - 67515140 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ATP6V0D1
         1 CNV: 102315
         1 Indel: 45457

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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.)
    About This Section

    ATP6V0D1 for disorders           About GeneDecksing

    OMIM gene information: 607028    OMIM disorders: --

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

    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)
    About This Section

    PubMed articles for ATP6V0D1 gene, integrated from 9 sources (see all 36):
    (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. (1993)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. 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. (2000)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    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. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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

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

    (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 ATP6V0D1 Pharmacogenomics, SNPs, Pathways

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