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

ATP6V1H Gene

protein-coding   GIFtS: 60
GCID: GC08M054678

ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit...

(Previous names: ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit...)
 Explore 10 diseases affiliated with
ATP6V1H via our new
 Human Malady Compendium 
Biological research products
for ATP6V1H
    

(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 50/57kDa, V1 Subunit H1 2     NBP12 3
SFD1 2     V-ATPase 50/57 KDa Subunits2 3
SFDalpha1 2     V-ATPase Subunit H2 3
SFDbeta1 2     CGI-111
VMA131 2     ATPase, H+ Transporting, Lysosomal 50/57kD, V1 Subunit H1
Nef-Binding Protein 12 3     MSTP0422
Protein VMA13 Homolog2 3     V-Type Proton ATPase Subunit H2
Vacuolar Proton Pump Subunit H2 3     Vacuolar ATP Synthase Subunit H2
Vacuolar Proton Pump Subunit SFD2 3     Vacuolar ATPase Subunit H2

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:
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)

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:
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


(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_000008.10  NC_018919.1  NT_008183.19  
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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UI12

  • ATP6V1H Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000347359   ENSP00000429947   ENSP00000352522   ENSP00000379995   ENSP00000428255  
     ENSP00000428625   ENSP00000430314   ENSP00000428969   ENSP00000428825   ENSP00000429786  
     ENSP00000427835  
    Reactome Protein details: Q9UI12
    Human Recombinant Protein Products: 
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    Uscn Proteins for ATP6V1H

    Gene Ontology (GO): 3 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:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--


    ATP6V1H for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V1H


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

    ATP6V1H for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB004908 V-ATPase subunit H

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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidATP6V1H 3' UTR sequence
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI9620685
    GO:0016887contributes to ATPase activity NAS9442887
    GO:0030234enzyme regulator activity NAS9442887
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--


    ATP6V1H for ontologies           About GeneDecksing


    Animal Models:
         1 MGI phenotypic allele for Atp6v1h (no phenotypes)

    ATP6V1H for phenotypes           About GeneDecksing


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

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

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    Insulin receptor recycling1.00
    Iron uptake and transport0.56
    Transferrin endocytosis and recycling0.79
    Vibrio cholerae infection0.41
    Phagosomal maturation (early endosomal stage)0.64
    Epithelial cell signaling in Helicobacter pylori infection0.33
    Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    2Degradation of CD4
    Degradation of CD41.00
    Degradation of CD80.75
    Nef Mediated CD4 Down-regulation0.78
    Nef Mediated CD8 Down-regulation0.75
    3HIV Infection
    HIV Infection1.00
    Host Interactions of HIV factors0.64
    4Nef-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 adapters1.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.75
    5Disease
    Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/17        Reactome Pathways for ATP6V1H (see all 17)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    The role of Nef in HIV-1 replication and disease pathogenesis
    Nef Mediated CD8 Down-regulation
    Disease


    5/8         Kegg Pathways  (Kegg details for ATP6V1H) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Vibrio cholerae infection


    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): 5/15 biological process terms (GO ID links to tree view) (see all 15):    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, 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]

    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 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 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
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    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 ENST00000520049 ENST00000521377
    ENST00000519588 ENST00000520070 ENST00000521275

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    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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    Additional cDNA 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.121481706  DT.121481713  DT.92457066  DT.92457069  DT.95369974 

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

    BI915625 AK022345 AF113222 BC007454 CR592283 BP343237 BU176724 BM820187 
    BM511182 BP378199 CB177925 BM556897 CB854794 AA954413 BM473525 BM829389 
    CR616924 BU189315 AK098305 BQ050933 BC025275 AL548152 NM_015941 AI310989 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGCCTGTT

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

    About this image
    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

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    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 9/30 species (see all 30)    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
    --
    82(a)
    1 ↔ 1
    GL343244.1(1247938-1268341)
    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 
    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 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    vacuolar ATP synthase subunit H, putative, express...
    vacuolar ATP synthase subunit H, putative, express...
    32(a)
    26(a)
    many → 1
    many → 1
    7(21818394-21821395)
    7(21815575-21817950)


    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, 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

    10/2049 NCBI SNPs in ATP6V1H are shown (see all 2049    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
    F,--54627834(+) GAAACG/CAAAGG 3 -- ds50011Minor allele frequency- C:0.07WA 118
    rs768782191,2
    --54627884(+) ATGTAC/TTAAGA 3 -- ds50010--------
    rs1177218921,2
    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
    --54628199(+) CTTTTC/GTTCAA 3 -- 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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP6V1H
         1 CNV: 3734

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP6V1H for disorders           About GeneDecksing

    OMIM gene information: 608861    OMIM disorders: --

    10 diseases for ATP6V1H:    About MalaCards
    osteopetrosis    rheumatoid arthritis    cholera    colon carcinoma
    arthritis    tuberculosis    immunodeficiency    carcinoma
    malaria    neuronitis


    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 46):
    (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. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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



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