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

ATP6V1D Gene

protein-coding   GIFtS: 63
GCID: GC14M067804

ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbol: ATP6M)
 Explore 7 diseases affiliated with
ATP6V1D via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP6V1D    

Aliases
for ATP6V1D gene

(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 34kDa, V1 Subunit D1 2     H(+)-Transporting Two-Sector ATPase, Subunit M2
ATP6M1 2 3     V-ATPase D Subunit2
VATD1 2 3     V-Type Proton ATPase Subunit D2
VMA81 2     Vacuolar ATP Synthase Subunit D2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump)1 2     Vacuolar H-ATPase Subunit D2
Vacuolar Proton Pump Subunit D2 3     Vacuolar Proton Pump D Subunit2
V-ATPase 28 KDa Accessory Protein2 3     Vacuolar Proton Pump Delta Polypeptide2
V-ATPase Subunit D2 3     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 GC14M047974


Summaries
for ATP6V1D gene

(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 ATP6V1D:
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)

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)

summary for ATP6V1D:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 plasmid: ATP6V1D promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC14M067804:  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

Proteins
for ATP6V1D gene

(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: 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)
Secondary accessions: B2RE33 Q9Y688

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5K8

    • ATP6V1D Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057078.1  
    ENSEMBL proteins: 
     ENSP00000451167   ENSP00000450834   ENSP00000451564   ENSP00000450885   ENSP00000216442  
     ENSP00000450841   ENSP00000452192   ENSP00000452029   ENSP00000451422   ENSP00000452492  
     ENSP00000451031  
    Reactome Protein details: Q9Y5K8
    Human Recombinant Protein Products: 
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    Uscn Proteins for ATP6V1D

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016020membrane IDA18752060
    GO:0016471vacuolar proton-transporting V-type ATPase complex IDA18752060


    ATP6V1D for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V1D

    Protein Domains /
    Families
    for ATP6V1D gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP6V1D for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002699 V_ATPase_D

    Graphical View of Domain Structure for InterPro Entry Q9Y5K8

    ProtoNet protein and cluster: Q9Y5K8

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

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


    Function
    for ATP6V1D gene

    (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: 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)

    miRNA
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    hsa-miR-4324 hsa-miR-3926 hsa-miR-3941
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    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


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


    Pathways & Interactions
    for ATP6V1D gene

    (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 - 5/9 super-pathways (see all 9) About 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
    2Disease
    		Disease1.00
    3Rheumatoid arthritis
    		Rheumatoid arthritis1.00
    4Phagosome
    		Phagosome1.00
    5IRS-related events
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for ATP6V1D (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/7         Kegg Pathways  (Kegg details for ATP6V1D) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    ATP6V1D for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1D

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

    5/200 Interacting proteins for ATP6V1D (Q9Y5K83 ENSP000002164424) via UniProtKB, MINT, STRING, and/or I2D (see all 200)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1FQ168643, ENSP000002492894I2D: score=6 STRING: ENSP00000249289
    ATP6V1E1P365433, ENSP000002534134I2D: score=5 STRING: ENSP00000253413
    ATP6V1C1P212833, ENSP000003792034I2D: score=4 STRING: ENSP00000379203
    RRAGAQ7L5233, ENSP000003698994I2D: score=4 STRING: ENSP00000369899
    TOMM34Q157853, ENSP000003619004I2D: score=2 STRING: ENSP00000361900
    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:0015992proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--


    ATP6V1D for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP6V1D gene

    (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 ATP6V1D:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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--
    Search CenterWatch for drugs/clinical trials and news about ATP6V1D / VATD 

    Transcripts
    for ATP6V1D gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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


    miRNA
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    hsa-miR-4324 hsa-miR-3926 hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V1D 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/468 AceView cDNA sequences (see all 468):

    AA280962 CR619369 CR613083 AA732089 CA392872 CR612882 BM562838 CA417035 
    AK125287 BG939999 AW316568 BG938649 AI371449 AI669662 BU678430 CR621010 
    AW084235 AA250817 N75344 AA985636 AI333292 AI569534 BI010048 BM976565 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for ATP6V1D gene

    (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

    ATP6V1D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGCCATTC

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

    ATP6V1D expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP6V1D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1D

    SOURCE GeneReport for Unigene cluster: Hs.272630
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    In Situ
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    Orthologs
    for ATP6V1D gene

    (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 ATP6V1D gene from 10/38 species (see all 38)    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  XM_421199.3  XP_421199.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ATP6V1D6
    		 --
    		 94(a)
    		 1 ↔ 1
    		 GL343272.1(1228654-1247366)
    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
    Protein VHA-141    		 67(a)3
    63.6(n)1
    71.13(a)1    		   III(9579749-9581278)3
    1763381  NM_066693.31  NP_499094.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes VMA8(YEL051W)4
    VMA81    		 Subunit D of the eight-subunit V1 peripheral membrane more4
    Vma8p1    		 58.3(n)1
    54.32(a)1    		   5(58378-59148)4
    8566591, 4  NP_010863.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G587301 V-type proton ATPase subunit D 57.69(n)
    51.02(a)    		   825042  NM_115735.4  NP_191432.1 
    rice
    (Oryza sativa)    		 Liliopsida Os04g06431001 hypothetical protein 53.12(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
    for ATP6V1D gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for ATP6V1D gene

    (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

    10/327 NCBI SNPs in ATP6V1D are shown (see all 327)     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
    		--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/TANNNN 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
    		--67805019(+) CGCTAA/GTGCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP6V1D (67761088 - 67826982 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP6V1D
         1 CNV: 8772

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    Disorders / Diseases
    for ATP6V1D gene

    (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
    ATP6V1D for disorders           About GeneDecksing

    OMIM gene information: 609398    OMIM disorders: --

    7 diseases for ATP6V1D:    About MalaCards
    osteopetrosis    pleural empyema    rheumatoid arthritis    cholera
    arthritis    pneumonia    malaria

    Human Genome Epidemiology (HuGE) Navigator: ATP6V1D (3 documents)

    Export disorders for ATP6V1D gene to outside databases

    Publications
    for ATP6V1D gene

    (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 ATP6V1D gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with ATP6V1D)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    4. Structure, function and regulation of the vacuolar (H+)-ATPase. (PubMed id 9442887)1, 3 Stevens T.H. and Forgac M. (1997)
    5. 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. (2001)
    6. 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. (2002)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. ErbB2-associated changes in the lysosomal proteome. (PubMed id 21674799)1 Nylandsted J....Jaattela M. (2011)

    External Searches for ATP6V1D gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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    Genome Databases showing ATP6V1D gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51382 HGNC: 13527 AceView: ATP6V1D Ensembl:ENSG00000100554 euGenes: HUgn51382
    ECgene: ATP6V1D Kegg: 51382 H-InvDB: ATP6V1D

    Other Databases showing ATP6V1D gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V1D gene

    (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 ATP6V1D Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ATP6V1D gene

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