Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

ATP6V1H Gene

protein-coding   GIFtS: 62
GCID: GC08M054678

ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit...

(Previous names: ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit H1 2     ATPase, H+ Transporting, Lysosomal 50/57kD, V1 Subunit H1
Vacuolar ATP Synthase Subunit H1 2     MSTP0422
Nef-Binding Protein 12 3     SFD2
Protein VMA13 Homolog2 3     SFDalpha2
Vacuolar Proton Pump Subunit H2 3     SFDbeta2
Vacuolar Proton Pump Subunit SFD2 3     VMA132
NBP12 3     V-Type Proton ATPase Subunit H2
V-ATPase 50/57 KDa Subunits2 3     Vacuolar ATPase Subunit H2
V-ATPase Subunit H2 3     

External Ids:    HGNC: 183031   Entrez Gene: 516062   Ensembl: ENSG000000472497   OMIM: 6088615   UniProtKB: Q9UI123   

Export aliases for ATP6V1H gene to outside databases

Previous GC identifers: GC08M053927 GC08M054567 GC08M054351 GC08M054790 GC08M050095


(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 ATP6V1H Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes
including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton
gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is
required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role
in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have
been observed for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for ATP6V1H Gene: 
ATP6V1H (ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H) is a protein-coding gene. Diseases associated with ATP6V1H include osteopetrosis, and cholera, and among its related super-pathways are Insulin receptor recycling and The role of Nef in HIV-1 replication and disease pathogenesis. GO annotations related to this gene include enzyme regulator activity and ATPase activity.

UniProtKB/Swiss-Prot: VATH_HUMAN, Q9UI12
Function: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the
enzyme and couples ATPase activity to proton flow. 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). Involved in the endocytosis mediated by clathrin-coated pits,
required for the formation of endosomes

summary for ATP6V1H 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 ATP6V1H Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1H gene promoter:
         FOXJ2 (long isoform)   HFH-1   Pax-2   FOXJ2   Pax-2a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1H promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1H

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1H


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

Entrez Gene cytogenetic band: 8q11.2   Ensembl cytogenetic band:  8q11.23   HGNC cytogenetic band: 8q11.2

ATP6V1H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1H gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M054678:  view genomic region     (about GC identifiers)

Start:
54,628,115 bp from pter      End:
54,756,118 bp from pter
Size:
128,004 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VATH_HUMAN, Q9UI12 (See protein sequence)
Recommended Name: V-type proton ATPase subunit H  
Size: 483 amino acids; 55883 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 HIV-1
Nef protein and AP2M1
Secondary accessions: B3KMR0 Q6PK44 Q9H3E3 Q9Y300
Alternative splicing: 2 isoforms:  Q9UI12-1   Q9UI12-2   

Explore the universe of human proteins at neXtProt for ATP6V1H: NX_Q9UI12

Explore proteomics data for ATP6V1H at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UI12

  • ATP6V1H Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1H Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_057025.2  NP_998784.1  NP_998785.1  

    ENSEMBL proteins: 
     ENSP00000347359   ENSP00000429947   ENSP00000352522   ENSP00000379995   ENSP00000428255  
     ENSP00000428625   ENSP00000428969   ENSP00000429786   ENSP00000427835  
    Reactome Protein details: Q9UI12
    Human Recombinant Protein Products for ATP6V1H: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ATP6V1H
    OriGene Protein Over-expression Lysate for ATP6V1H
    OriGene MassSpec for ATP6V1H 
    OriGene Custom Protein Services for ATP6V1H
    GenScript Custom Purified and Recombinant Proteins Services for ATP6V1H
    Novus Biologicals ATP6V1H Protein
    Novus Biologicals ATP6V1H Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATP6V1H 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000221vacuolar proton-transporting V-type ATPase, V1 domain NAS9442887
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    ATP6V1H for ontologies           About GeneDecksing



    ATP6V1H Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ATP6V1H
    OriGene Custom Antibody Services for ATP6V1H
    GenScript Custom Superior Antibodies Services for ATP6V1H
    Novus Biologicals ATP6V1H Antibodies
    Abcam antibodies for ATP6V1H
    Cloud-Clone Corp. Antibodies for ATP6V1H 
    ThermoFisher Antibody for ATP6V1H
    LSBio Antibodies in human, mouse, rat for ATP6V1H 

    Assay Products for ATP6V1H: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATP6V1H
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATP6V1H
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATP6V1H 
    Cloud-Clone Corp. CLIAs for ATP6V1H


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: H 
    V-type ATPase

    4 InterPro protein domains:
     IPR004908 ATPase_V1-cplx_hsu
     IPR011989 ARM-like
     IPR011987 ATPase_V1-cplx_hsu_C
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9UI12

    ProtoNet protein and cluster: Q9UI12

    1 Blocks protein domain: IPB004908 V-ATPase subunit H

    UniProtKB/Swiss-Prot: VATH_HUMAN, Q9UI12
    Similarity: Belongs to the V-ATPase H subunit family


    ATP6V1H for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATH_HUMAN, Q9UI12
    Function: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the
    enzyme and couples ATPase activity to proton flow. 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). Involved in the endocytosis mediated by clathrin-coated pits,
    required for the formation of endosomes

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI11179428
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances ----
    GO:0016887contributes to ATPase activity NAS9442887
    GO:0030234enzyme regulator activity NAS9442887
         
    ATP6V1H for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Atp6v1h (no phenotypes)

    ATP6V1H for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP6V1H 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATP6V1H

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP6V1H 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP6V1H 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1H
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP6V1H:
    hsa-miR-501-5p hsa-miR-525-5p hsa-miR-194 hsa-miR-580 hsa-miR-520a-5p hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1H 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATP6V1H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1H

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATP6V1H
    Sirion Biotech Customized adenovirus for overexpression of ATP6V1H

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ATP6V1H (see all 17)
    OriGene ORF clones in mouse, rat for ATP6V1H
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ATP6V1H (NM_213619)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1H
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1H
    Sirion Biotech Customized lentivirus for stable overexpression of ATP6V1H 
                         Customized lentivirus expression plasmids for stable overexpression of ATP6V1H 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATP6V1H
    Search LifeMap BioReagents cell lines for ATP6V1H
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1H


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

    SuperPaths for ATP6V1H About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.79
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    Transferrin endocytosis and recycling0.79
    Vibrio cholerae infection0.41
    Iron uptake and transport0.69
    Epithelial cell signaling in Helicobacter pylori infection0.33
    Phagosomal maturation (early endosomal stage)0.64
    2Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.75
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    3Nef Mediated CD4 Down-regulation
    Nef Mediated CD4 Down-regulation0.60
    Nef Mediated CD8 Down-regulation0.60
    4HIV Life Cycle
    HIV Infection0.61
    Host Interactions of HIV factors0.60
    5IRS-related events
    Signaling by Insulin receptor0.79

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/15        Reactome Pathways for ATP6V1H (see all 15)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    The role of Nef in HIV-1 replication and disease pathogenesis


    5/9         Kegg Pathways  (Kegg details for ATP6V1H) (see all 9):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V1H for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1H

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

    5/71 Interacting proteins for ATP6V1H (Q9UI122, 3 ENSP000003525224) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETHE1O955712, 3, ENSP000002921474MINT-63314 I2D: score=4 STRING: ENSP00000292147
    ATP6V1E1P365433, ENSP000002534134I2D: score=7 STRING: ENSP00000253413
    ATP6V1DQ9Y5K83, ENSP000002164424I2D: score=1 STRING: ENSP00000216442
    ATP6V1FQ168643, ENSP000002492894I2D: score=1 STRING: ENSP00000249289
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process NAS9442887
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006897endocytosis IDA12032142
    GO:0007035vacuolar acidification NAS9442887
    GO:0008286insulin receptor signaling pathway TAS--

    ATP6V1H for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V1H:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1H 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 ATP6V1H    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 ATP6V1H / VATH

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP6V1H gene (3 alternative transcripts): 
    NM_015941.3  NM_213619.2  NM_213620.2  

    Unigene Cluster for ATP6V1H:

    ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
    Hs.491737  [show with all ESTs]
    Unigene Representative Sequence: NM_015941
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000355221(uc003xrl.3 uc003xrm.3 uc003xrn.3 uc011ldv.2 uc010lyd.3)
    ENST00000518072 ENST00000522159 ENST00000523343 ENST00000520188(uc003xrk.3)
    ENST00000359530 ENST00000523899 ENST00000396774 ENST00000524164 ENST00000523426
    ENST00000521707 ENST00000521900 ENST00000522849 ENST00000521377 ENST00000519588
    ENST00000521275 ENST00000524234 ENST00000521335
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1H
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP6V1H:
    hsa-miR-501-5p hsa-miR-525-5p hsa-miR-194 hsa-miR-580 hsa-miR-520a-5p hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1H 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATP6V1H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1H
    Clone
    Products:
         
    OriGene clones in human, mouse for ATP6V1H (see all 17)
    OriGene ORF clones in mouse, rat for ATP6V1H
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ATP6V1H (NM_213619)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V1H
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1H
    Sirion Biotech Customized lentivirus for stable overexpression of ATP6V1H 
                         Customized lentivirus expression plasmids for stable overexpression of ATP6V1H 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ATP6V1H
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1H
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V1H
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1H
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1H

    Additional mRNA sequence: 

    AF112204.1 AF113222.1 AF132945.1 AF298777.1 AK022345.1 AK094839.1 AK098305.1 AK303229.1 
    AK308204.1 BC007421.2 BC007454.2 BC014862.1 BC025275.1 

    24/27 DOTS entries (see all 27):

    DT.95369971  DT.445321  DT.100795002  DT.101983911  DT.121481643  DT.100794996  DT.92457039  DT.121481607 
    DT.121481717  DT.121481680  DT.100795005  DT.87046509  DT.91804093  DT.100794997  DT.101964642  DT.121481655 
    DT.92457030  DT.100795006  DT.121481618  DT.121481690  DT.121481706  DT.121481713  DT.92457066  DT.92457069 

    24/394 AceView cDNA sequences (see all 394):

    CA306173 AF298777 BU625254 AL536296 BM761726 AU141703 CB152747 AL543525 
    CB177925 BM761653 CR619990 BM979961 AI241967 BM722693 BQ721973 BQ897213 
    M78918 Z39349 BU071555 CR607523 BU166822 BQ637067 Z43277 BP376572 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1H    About this scheme

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


    ECgene alternative splicing isoforms for ATP6V1H

    (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

    ATP6V1H expression in normal human tissues (normalized intensities)      ATP6V1H embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCCTGTT
    ATP6V1H Expression
    About this image


    ATP6V1H expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See ATP6V1H Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1H

    SOURCE GeneReport for Unigene cluster: Hs.491737

    UniProtKB/Swiss-Prot: VATH_HUMAN, Q9UI12
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for ATP6V1H
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ATP6V1H
    OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1H
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP6V1H
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1H
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1H
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1H

    (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 ATP6V1H gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1h1 , 5 ATPase, H+ transporting, lysosomal V1 subunit H1, 5 90.9(n)1
    98.71(a)1
      1 (1.85 cM)5
    1086641  NM_133826.41  NP_598587.21 
     50831735 
    chicken
    (Gallus gallus)
    Aves ATP6V1H1 ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit more 83.33(n)
    95.67(a)
      426199  NM_001197326.1  NP_001184255.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1H6
    ATPase, H+ transporting, lysosomal 50/57kDa, V1 su...
    94(a)
    1 ↔ 1
    GL343244.1(1243004-1286263)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.243652 Xenopus laevis transcribed sequence with moderate similarity more 81.06(n)    BI315482.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v1h2 ATPase, H+ transporting, lysosomal, V1 subunit H 79.12(n)   286779  AF506234.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta VhaSFD1 , 3 hydrogen-transporting two-sector
    ATPase3
    Vacuolar H[+]-ATPase SFD subunit1
    51(a)3
    56.62(n)1
    56.47(a)1
      36A123
    349971  NM_078861.21  NP_523585.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T14F9.13
    vha-151
    ATPase subunit3
    Protein VHA-151
    51(a)
    (best of 2)3
    54.82(n)1
    53.73(a)1
      X(2273215-2275205)3
    1805341  NM_076011.21  NP_508412.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA13(YPR036W)4 Subunit H of the eight-subunit V1 peripheral membrane more   --   16(643836-645272) 856148  NP_015361.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G420501 V-type proton ATPase subunit H 45.85(n)
    30.24(a)
      823170  NM_114072.3  NP_189791.1 


    ENSEMBL Gene Tree for ATP6V1H (if available)
    TreeFam Gene Tree for ATP6V1H (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2389 SNPs in ATP6V1H are shown (see all 2389)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422031121,2
    --54627693(+) AACTGC/GTAGGA 3 -- ds50010--------
    rs1897018041,2
    --54627783(+) TCAGAA/GGAGGC 3 -- ds50010--------
    rs761985951,2
    C,F--54627834(+) GAAACG/CAAAGG 3 -- ds50011Minor allele frequency- C:0.07WA 118
    rs768782191,2
    C--54627884(+) ATGTAC/TTAAGA 3 -- ds50010--------
    rs1177218921,2
    C,F--54628069(+) TGATAT/CATAGA 3 -- ds50011Minor allele frequency- C:0.02NA 120
    rs747172121,2
    C--54628091(+) CTGCAC/TAGAGA 3 -- ds50010--------
    rs1807006381,2
    --54628124(+) TTTTAA/GAACAT 3 -- ut310--------
    rs1855321921,2
    C--54628199(+) CTTTTC/G/TTTCAA 6 -- ut310--------
    rs1429835081,2
    --54628282(+) TAAATA/CCAGAA 3 -- ut310--------
    rs1899915331,2
    --54628337(+) AATCAC/TCTACT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP6V1H (54628115 - 54756118 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP6V1H:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2240e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1H
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1H

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608861    OMIM disorders: --

    5 diseases for ATP6V1H:    About MalaCards
    osteopetrosis    cholera    rheumatoid arthritis    arthritis
    tuberculosis


    ATP6V1H for disorders           About GeneDecksing


    Export disorders for ATP6V1H 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 ATP6V1H gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with ATP6V1H)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interactions between HIV1 Nef and vacuolar ATPase facilitate the internalization of CD4. (PubMed id 9620685)1, 2, 3, 9 Lu X.... Peterlin B.M. (1998)
    2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Subunit H of the V-ATPase binds to the medium chain of adaptor protein complex 2 and connects Nef to the endocytic machinery. (PubMed id 12032142)1, 2 Geyer M....Peterlin B.M. (2002)
    6. 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)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51606 HGNC: 18303 AceView: ATP6V1H Ensembl:ENSG00000047249 euGenes: HUgn51606
    ECgene: ATP6V1H Kegg: 51606 H-InvDB: ATP6V1H

    (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 ATP6V1H 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 ATP6V1H gene:
    Search GeneIP for patents involving ATP6V1H

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore small molecules (inhibitor) for ATP6V1H
     Browse Kits and Assays available from EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ATP6V1H   OriGene RNAi products in human, mouse, rat for ATP6V1H  
     OriGene qPCR primer pairs and template standards for ATP6V1H   OriGene Protein Over-expression Lysate for ATP6V1H  
     OriGene MassSpec something-or-other for ATP6V1H   OriGene clones in human, mouse for ATP6V1H  
     OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V1H   OriGene Purified Protein for ATP6V1H  
     OriGene ORF clones in mouse, rat for ATP6V1H   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ATP6V1H   OriGene Custom Protein Services for ATP6V1H  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATP6V1H
     QIAGEN SeqTarget long-range PCR primers for resequencing ATP6V1H
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1H
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1H
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP6V1H
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP6V1H
     GenScript Custom Purified and Recombinant Proteins Services for ATP6V1H GenScript cDNA clones with any tag delivered in your preferred vector for ATP6V1H
     GenScript Custom Assay Services for ATP6V1H GenScript Custom Superior Antibodies Services for ATP6V1H
     GenScript Custom overexpressing Cell Line Services for ATP6V1H CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ATP6V1H promoter
     Search Chromatin IP Primers for ATP6V1H
     RT2 qPCR Primer Assay in human, mouse, rat ATP6V1H
     Search GNC Networks for ATP6V1H
     SABiosciences Custom PCR Arrays for ATP6V1H
     Tocris compounds for ATP6V1H
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ATP6V1H antibodies
     ATP6V1H proteins
     ATP6V1H lysates
     Antibodies for ATP6V1H
     See all of Abcam's Antibodies, Kits and Proteins for ATP6V1H
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for ATP6V1H
     Antibodies for ATP6V1H
     ELISAs for ATP6V1H
     CLIAs for ATP6V1H
     Search LifeMap BioReagents cell lines for ATP6V1H
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1H
     SwitchGear 3'UTR luciferase reporter plasmids for ATP6V1H
     SwitchGear Promoter luciferase reporter plasmids for ATP6V1H
     ThermoFisher Antibody for ATP6V1H
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1H
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP6V1H
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATP6V1H
    Customized:
     lentivirus for stable overexpression of ATP6V1H
     lentivirus expression plasmids for stable overexpression of ATP6V1H
     adenovirus for overexpression of ATP6V1H
     LSBio Antibodies in human, mouse, rat for ATP6V1H
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ATP6V1H gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4