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ATP6V1D Gene

protein-coding   GIFtS: 64
GCID: GC14M067761

ATPase, H+ Transporting, Lysosomal 34kDa, V1 Subunit D

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump))
(Previous symbol: ATP6M)
Microbiology & Infectious Diseases Congress
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(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 34kDa, V1 Subunit D1 2     H(+)-Transporting Two-Sector ATPase, Subunit M2
ATP6M1 2 3     V-ATPase D Subunit2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump)1 2     V-Type Proton ATPase Subunit D2
Vacuolar Proton Pump Subunit D2 3     Vacuolar ATP Synthase Subunit D2
VATD2 3     Vacuolar H-ATPase Subunit D2
V-ATPase 28 KDa Accessory Protein2 3     Vacuolar Proton Pump D Subunit2
V-ATPase Subunit D2 3     Vacuolar Proton Pump Delta Polypeptide2
VMA82     Vacuolar Proton-ATPase Subunit D2
ATPase, H+ Transporting Lysosomal, Member M2     

External Ids:    HGNC: 135271   Entrez Gene: 513822   Ensembl: ENSG000001005547   OMIM: 6093985   UniProtKB: Q9Y5K83   

Export aliases for ATP6V1D gene to outside databases

Previous GC identifers: GC14M065309 GC14M061598 GC14M065792 GC14M065794 GC14M066874 GC14M067804 GC14M047974


(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 ATP6V1D 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 the V1 domain D subunit protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V1D Gene:
ATP6V1D (ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D) is a protein-coding gene. Diseases associated with ATP6V1D include pleural empyema, and osteopetrosis. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances.

UniProtKB/Swiss-Prot: VATD_HUMAN, Q9Y5K8
Function: Subunit of the peripheral V1 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 (By similarity). May play a role in cilium biogenesis through
regulation of the transport and the localization of proteins to the cilium

summary for ATP6V1D 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 ATP6V1D 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_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V1D gene promoter:
         SRF   AP-1   SRF (504 AA)   FOXD1   IRF-1   c-Ets-1   C/EBPalpha   AREB6   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1D promoter sequence
   Search Chromatin IP Primers for ATP6V1D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1D


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

Entrez Gene cytogenetic band: 14q23-q24.2   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q23-q24.2

ATP6V1D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1D gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M067761:  view genomic region     (about GC identifiers)

Start:
67,761,088 bp from pter      End:
67,826,982 bp from pter
Size:
65,895 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VATD_HUMAN, Q9Y5K8 (See protein sequence)
Recommended Name: V-type proton ATPase subunit D  
Size: 247 amino acids; 28263 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). Interacts with SNX10;
may play a role in ciliogenesis
Secondary accessions: B2RE33 Q9Y688

Explore the universe of human proteins at neXtProt for ATP6V1D: NX_Q9Y5K8

Explore proteomics data for ATP6V1D at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6V1D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057078.1  
    ENSEMBL proteins: 
     ENSP00000451167   ENSP00000450834   ENSP00000451564   ENSP00000450885   ENSP00000216442  
     ENSP00000450841   ENSP00000452192   ENSP00000452029   ENSP00000451422   ENSP00000452492  
     ENSP00000451031  
    Reactome Protein details: Q9Y5K8

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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: D
    V-type ATPase

    1 InterPro protein domain:
     IPR002699 V_ATPase_D

    Graphical View of Domain Structure for InterPro Entry Q9Y5K8

    ProtoNet protein and cluster: Q9Y5K8

    1 Blocks protein domain: IPB002699 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VATD_HUMAN, Q9Y5K8
    Similarity: Belongs to the V-ATPase D subunit family


    ATP6V1D 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: VATD_HUMAN, Q9Y5K8
    Function: Subunit of the peripheral V1 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 (By similarity). May play a role in cilium biogenesis through
    regulation of the transport and the localization of proteins to the cilium

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18752060
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IEA--
         
    ATP6V1D for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ATP6V1D:
     Cell division defect  Decreased Hepatitis C virus re  Decreased number of cells in m  Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Atp6v1d (no phenotypes)

    ATP6V1D for phenotypes           About GeneDecksing

    Animal Models:
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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
    VATD_HUMAN, Q9Y5K8: Membrane; Peripheral membrane protein; Cytoplasmic side (Probable). Note=Localizes to
    centrosome and the base of the cilium
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    vacuole5
    cytosol4
    nucleus2
    plasma membrane2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005813colocalizes with centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005929colocalizes with cilium IDA--
    GO:0016020membrane IDA18752060

    ATP6V1D 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 ATP6V1D 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ATP6V1D
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V1D) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1D for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1D
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1D

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

    Selected Interacting proteins for ATP6V1D (Q9Y5K83 ENSP000002164424) via UniProtKB, MINT, STRING, and/or I2D (see all 208)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1FQ168643, ENSP000002492894I2D: score=6 STRING: ENSP00000249289
    ATP6V1E1P365433, ENSP000002534134I2D: score=5 STRING: ENSP00000253413
    ATP6V1C1P212833, ENSP000003792034I2D: score=4 STRING: ENSP00000379203
    TOMM34Q157853, ENSP000003619004I2D: score=2 STRING: ENSP00000361900
    AARSD1Q9BTE63I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015992proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0042384cilium assembly IMP--

    ATP6V1D 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
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    Compounds for ATP6V1D 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 ATP6V1D    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,
    Conferences by KenesGroup, 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 ATP6V1D gene: 
    NM_015994.3  

    Unigene Cluster for ATP6V1D:

    ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D
    Hs.272630  [show with all ESTs]
    Unigene Representative Sequence: AK024101
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554087 ENST00000553974 ENST00000553408 ENST00000555625 ENST00000555474
    ENST00000216442(uc001xjf.3) ENST00000555431 ENST00000554236 ENST00000555723
    ENST00000556058 ENST00000555335 ENST00000553687 ENST00000555012 ENST00000557244

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF077614.1 AF100741.1 AF104629.1 AF145316.1 AK001155.1 AK024101.1 AK315784.1 BC001411.2 
    BC025373.1 BC031002.1 

    22 DOTS entries:

    DT.318912  DT.95164142  DT.100870175  DT.91662707  DT.100771970  DT.120743169  DT.99953602  DT.100870188 
    DT.100870187  DT.100709145  DT.100870183  DT.95264370  DT.100858713  DT.40113749  DT.92441528  DT.95264373 
    DT.97774281  DT.120743139  DT.120743208  DT.40130249  DT.70102015  DT.92441537 

    Selected AceView cDNA sequences (see all 468):

    AI697079 AI805215 CA417943 BE378147 CR613083 AA280882 AI569534 BU628054 
    BQ631295 BI010048 AK125287 BI759697 N31871 CA430960 AA565549 AA736575 
    CR626788 BU188210 AF104629 H90883 BE857476 AA808563 BX487332 CR603153 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1D (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for ATP6V1D

    (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)
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    ATP6V1D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCCATTC
    ATP6V1D Expression
    About this image


    ATP6V1D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Colon (Gastrointestinal Tract)
    ATP6V1D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.272630
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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 ATP6V1D gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1d1 , 5 ATPase, H+ transporting, lysosomal V1 subunit D1, 5 91.09(n)1
    98.38(a)1
      12 (35.51 cM)5
    738341  NM_023721.21  NP_076210.11 
     788429895 
    chicken
    (Gallus gallus)
    Aves ATP6V1D1 ATPase, H+ transporting, lysosomal 34kDa, V1 subunit more 80.7(n)
    95.55(a)
      423280  NM_001277439.1  NP_001264368.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1D6
    ATPase, H+ transporting, lysosomal 34kDa, V1 subun...
    83(a)
    1 ↔ 1
    GL343272.1(1228447-1247366)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.227272 Xenopus laevis transcribed sequence with moderate similarity more 77.52(n)    CD254966.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc555242 similar to ATPase, H+ transporting, lysosomal 34kDa, more 74.14(n)   393935  BC045370.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha363
    Vha36-11
    hydrogen transport
    hydrogen-transporting two-sector
    more3
    Vacuolar H[+] ATPase subunit 36-11
    72(a)
    (best of 3)3
    64.49(n)1
    73.06(a)1
      52A103
    447021  NM_143730.21  NP_651987.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F55H2.23
    vha-141
    Membrane-associated atpase gamma chain3
    vha-141
    67(a)3
    63.33(n)1
    70.83(a)1
      III(9579749-9581278)3
    1763381  NM_066693.41  NP_499094.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA8(YEL051W)4
    VMA81
    Subunit D of the eight-subunit V1 peripheral membrane more4
    VMA81
    58.57(n)1
    54.32(a)1
      5(58378-59148)4
    8566591, 4  NP_010863.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G587301 AT3G58730 59.68(n)
    54.76(a)
      825042  NM_115735.4  NP_191432.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06431001 Os04g0643100 53.25(n)
    54.88(a)
      4337176  NM_001060583.1  NP_001054048.1 


    ENSEMBL Gene Tree for ATP6V1D (if available)
    TreeFam Gene Tree for ATP6V1D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V1D gene
    1 SIMAP similar gene for ATP6V1D using alignment to 12 protein entries:     VATD_HUMAN (see all proteins):
    VATD

    ATP6V1D 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 ATP6V1D (see all 403)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1128966391,2
    C--67804122(+) TACTCA/GGGAGA 1 -- ds50010--------
    rs1113394231,2
    C,F--67804160(+) GGAGGC/TGGACG 1 -- ds50012Minor allele frequency- T:0.03CSA WA 120
    rs22743351,2
    C,F,H--67804323(+) TTCAGA/TACTAA 1 -- ds500111Minor allele frequency- T:0.37EA NS NA WA 2230
    rs18131,2
    C,F,H--67804375(+) GGATGC/TGAGAA 1 -- ds500122Minor allele frequency- T:0.04MN EA NS NA 4306
    rs1501784681,2
    --67804642(+) TCAAAA/TGTAAG 1 -- ut310--------
    rs115393561,2
    C,F--67804849(+) GCTCCC/TATGAC 1 -- ut311Minor allele frequency- T:0.05NA 120
    rs1386524941,2
    --67804941(+) GCAGCA/CATCTC 1 -- ut310--------
    rs1413914501,2
    --67804963(+) CCAAGG/TTTTGC 1 -- ut310--------
    rs1128523851,2
    --67805014(+) GAGACC/TGCTAA 1 -- ut310--------
    rs1380807051,2
    C--67805019(+) CGCTAA/GTGCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP6V1D (67761088 - 67826982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ATP6V1D:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470651CNV Gain18288195
    esv2751285CNV Gain17911159
    nsv832821CNV Gain17160897
    nsv902065CNV Gain21882294
    nsv456331CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1D
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1D

    (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.)
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    OMIM gene information: 609398    OMIM disorders: --

    9 diseases for ATP6V1D:    
    About MalaCards
    pleural empyema    osteopetrosis    cholera    pneumonia
    tuberculosis    rheumatoid arthritis    arthritis    malaria
    cerebritis


    ATP6V1D for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP6V1D
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1D (3 documents)

    Export disorders for ATP6V1D 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 ATP6V1D gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with ATP6V1D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. 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)
    5. Structure, function and regulation of the vacuolar (H+)-ATPase. (PubMed id 9442887)1, 3 Stevens T.H. and Forgac M. (Annu. Rev. Cell Dev. Biol. 1997)
    6. cDNA cloning, chromosomal localization and evolutionary analysis of mouse vacuolar ATPase subunit D, Atp6m. (PubMed id 11435709)1, 9 Kennell J.A....Gumucio D.L. (Cytogenet. Cell Genet. 2001)
    7. Yeast two-hybrid screening identifies binding partners of human Tom34 that have ATPase activity and form a complex with Tom34 in the cytosol. (PubMed id 11913976)1, 9 Yang C.-S. and Weiner H. (Arch. Biochem. Biophys. 2002)
    8. 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)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. (PubMed id 21844891)2 Chen Y.... Pei D. (Cell Res. 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: 51382 HGNC: 13527 AceView: ATP6V1D Ensembl:ENSG00000100554 euGenes: HUgn51382
    ECgene: ATP6V1D Kegg: 51382 H-InvDB: ATP6V1D

    (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)
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    NameDescription
    PharmGKB entry for ATP6V1D 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 ATP6V1D gene:
    Search GeneIP for patents involving ATP6V1D

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



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