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ATP6V1H Gene

protein-coding   GIFtS: 63
GCID: GC08M054678

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

(Previous names: ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H)
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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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP6V1H

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: 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: 

  • Ubiquitination2 at Lys396, Lys469
  • Modification sites at PhosphoSitePlus

  • See ATP6V1H Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ATP6V1H Human Recombinant Protein Products:

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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: 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


    Find genes that share domains with ATP6V1H           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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
         
    Find genes that share ontologies with ATP6V1H           About GenesLikeMe


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

    Find genes that share phenotypes with ATP6V1H           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP6V1H
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    miRNA
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    miRTarBase miRNAs that target ATP6V1H:
    hsa-mir-155-5p (MIRT020893)

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    6 qRT-PCR 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
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    Addgene plasmids for ATP6V1H 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1H


    (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 COMPARTMENTS: 

    CompartmentConfidence
    vacuole5
    cytosol4
    plasma membrane4
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 5 cellular component terms:    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--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ATP6V1H           About GenesLikeMe


    (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 ATP6V1H About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Vibrio cholerae infection0.40
    Transferrin endocytosis and recycling0.74
    Epithelial cell signaling in Helicobacter pylori infection0.32
    Iron uptake and transport0.70
    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 adapters0.76
    Nef Mediated CD4 Down-regulation0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    Nef Mediated CD8 Down-regulation0.00
    3HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60
    4Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64


    Find genes that share SuperPaths with ATP6V1H           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 Reactome Pathways for ATP6V1H
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Nef Mediated CD8 Down-regulation
    Nef Mediated CD4 Down-regulation
    Transferrin endocytosis and recycling


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1H
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1H

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

    Selected Interacting proteins for ATP6V1H (Q9UI122, 3 ENSP000003525224) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    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): Selected biological process terms (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--

    Find genes that share ontologies with ATP6V1H           About GenesLikeMe



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

    Compounds for 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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
    miRNA
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    6 qRT-PCR 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
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      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 

    Selected 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 

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATP6V1H expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ATP6V1H Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1H Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491737

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

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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 ATP6V1H gene from Selected species (see all 19)    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 91.03(n)1
    98.55(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 83.12(n)
    94.58(a)
      426199  NM_001197326.1  NP_001184255.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1H6
    ATPase, H+ transporting, lysosomal 50/57kDa, V1 su...
    95(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
    56.7(n)1
    56.47(a)1
      36A123
    349971  NM_001273581.11  NP_001260510.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T14F9.13
    vha-151
    ATPase subunit3
    vha-151
    51(a)
    (best of 2)3
    54.56(n)1
    53.61(a)1
      X(2273215-2275205)3
    1805341  NM_076011.31  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 AT3G42050 46.18(n)
    30.73(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)
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      --

    (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 ATP6V1H (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608861    OMIM disorders: --


    Find genes that share disorders with ATP6V1H           About GenesLikeMe


    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)
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    PubMed articles for ATP6V1H gene, integrated from 10 sources (see all 53):
    (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. (Immunity 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.-C. (Genome Res. 2000)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    10. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome 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: 51606 HGNC: 18303 AceView: ATP6V1H Ensembl:ENSG00000047249 euGenes: HUgn51606
    ECgene: ATP6V1H Kegg: 51606 H-InvDB: ATP6V1H

    (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 ATP6V1H 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 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



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