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

ATP6V1F Gene

protein-coding   GIFtS: 65
GCID: GC07P128502

ATPase, H+ Transporting, Lysosomal 14kDa, V1 Subunit F

  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 14kDa, V1 Subunit F1 2     Adenosinetriphosphatase 14k Chain2
Vacuolar Proton Pump Subunit F2 3     ATPase, Vacuolar, 14 KD2
ATP6S142 3     H(+)-Transporting Two-Sector ATPase, 14kD Subunit2
VATF2 3     V-ATPase F Subunit2
V-ATPase 14 KDa Subunit2 3     V-Type Proton ATPase Subunit F2
V-ATPase Subunit F2 3     Vacuolar ATP Synthase Subunit F2
Vma72     Vacuolar Proton Pump F Subunit2

External Ids:    HGNC: 168321   Entrez Gene: 92962   Ensembl: ENSG000001285247   OMIM: 6071605   UniProtKB: Q168643   

Export aliases for ATP6V1F gene to outside databases

Previous GC identifers: GC07P126980 GC07P128043 GC07P128056 GC07P128096 GC07P128290 GC07P122864


(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 ATP6V1F Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such
intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic
vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain.
The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The
V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and
d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively
spliced transcript variants. This encoded protein is the V1 domain F subunit protein. (provided by RefSeq, Jul
2008)

GeneCards Summary for ATP6V1F Gene: 
ATP6V1F (ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F) is a protein-coding gene. Diseases associated with ATP6V1F include osteopetrosis, and cholera, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include proton-transporting ATP synthase activity, rotational mechanism and hydrogen ion transmembrane transporter activity.

UniProtKB/Swiss-Prot: VATF_HUMAN, Q16864
Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function.
V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1F 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 ATP6V1F 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_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1F gene promoter:
         GR   FAC1   Pbx1a   GR-beta   Nkx2-5   GR-alpha   CUTL1   MRF-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1F promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1F

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1F


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

Entrez Gene cytogenetic band: 7q32   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q32.1

ATP6V1F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1F gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P128502:  view genomic region     (about GC identifiers)

Start:
128,502,857 bp from pter      End:
128,505,903 bp from pter
Size:
3,047 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,886,602-127,889,648     

(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: VATF_HUMAN, Q16864 (See protein sequence)
Recommended Name: V-type proton ATPase subunit F  
Size: 119 amino acids; 13370 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H)
attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d)
Secondary accessions: C9J2K4 Q6IBA8
Alternative splicing: 2 isoforms:  Q16864-1   Q16864-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP6V1F: NX_Q16864

Explore proteomics data for ATP6V1F at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16864

  • ATP6V1F Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1F Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001185838.1  NP_004222.2  

    ENSEMBL proteins: 
     ENSP00000249289   ENSP00000417378  
    Reactome Protein details: Q16864
    Human Recombinant Protein Products for ATP6V1F: 
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    Cloud-Clone Corp. Proteins for ATP6V1F 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016020membrane IDA18752060
    GO:0016469proton-transporting two-sector ATPase complex NAS8581736
    GO:0016471vacuolar proton-transporting V-type ATPase complex IDA18752060
    GO:0033180proton-transporting V-type ATPase, V1 domain IEA--

    ATP6V1F for ontologies           About GeneDecksing



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    (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: F 
    V-type ATPase

    2 InterPro protein domains:
     IPR005772 ATPase_V1-cplx_fsu_euk
     IPR008218 ATPase_V1-cplx_f_g_su

    Graphical View of Domain Structure for InterPro Entry Q16864

    ProtoNet protein and cluster: Q16864

    1 Blocks protein domain: IPB008218 Vacuolar H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VATF_HUMAN, Q16864
    Similarity: Belongs to the V-ATPase F subunit family


    ATP6V1F 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: VATF_HUMAN, Q16864
    Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function.
    V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18752060
    GO:0015078hydrogen ion transmembrane transporter activity NAS8581736
    GO:0042624ATPase activity, uncoupled NAS8581736
    GO:0042625ATPase activity, coupled to transmembrane movement of ions ----
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP6V1F for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Atp6v1f (no phenotypes)

    ATP6V1F for phenotypes           About GeneDecksing

    Animal Models:
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    miRNA
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    hsa-miR-185 hsa-miR-4306 hsa-miR-194 hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1F 3' UTR sequence
    Inhib. RNA
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    (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 ATP6V1F About   (see all 10)                                                                                              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
    Phagosomal maturation (early endosomal stage)0.64
    Iron uptake and transport0.69
    Vibrio cholerae infection0.41
    Collecting duct acid secretion0.68
    Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.55
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/9        Reactome Pathways for ATP6V1F (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/8         Kegg Pathways  (Kegg details for ATP6V1F) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1F for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1F

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

    5/90 Interacting proteins for ATP6V1F (Q168642, 3 ENSP000002492894) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1377Q9P2H02, 3MINT-64623 I2D: score=5 
    ENSG00000206445O956703, ENSP000003729954I2D: score=1 STRING: ENSP00000372995
    ENSG00000226850O956703, ENSP000004063724I2D: score=1 STRING: ENSP00000406372
    ENSG00000234920O956703, ENSP000004063894I2D: score=1 STRING: ENSP00000406389
    ATP6V1G2O956703I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport NAS8581736
    GO:0033572transferrin transport TAS--

    ATP6V1F 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 ATP6V1F:
    Small Molecule - inhibitor
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    Compounds for ATP6V1F 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 ATP6V1F    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 ATP6V1F / VATF

    (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 ATP6V1F gene (2 alternative transcripts): 
    NM_001198909.1  NM_004231.3  

    Unigene Cluster for ATP6V1F:

    ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F
    Hs.78089  [show with all ESTs]
    Unigene Representative Sequence: BM907716
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000249289(uc003voc.2) ENST00000492758(uc022all.1)
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    Additional mRNA sequence: 

    AK312214.1 BC104230.1 BC104231.1 BC107854.1 CR456896.1 D49400.1 

    9 DOTS entries:

    DT.452305  DT.99997317  DT.100037619  DT.97845532  DT.86821237  DT.100822052  DT.121128760  DT.449657 
    DT.91819232 

    24/403 AceView cDNA sequences (see all 403):

    AA340124 BQ678545 BU181671 BQ683040 BQ053392 AI097102 CA309581 AI864313 
    F06548 CB128012 N67501 BU727737 BQ640150 BU162435 N31048 CF129293 
    CD676202 AA758242 CB155120 BU176966 BM854668 BQ674403 BI829503 AI042612 

    GeneLoc Exon Structure


    (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

    ATP6V1F expression in normal human tissues (normalized intensities)      ATP6V1F embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCACTGCCG
    ATP6V1F Expression
    About this image


    ATP6V1F expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
             brain/hindbrain   
     
     Thyroid (Endocrine System)
             parathyroid gland   
     
     Spinal Cord (Nervous System)

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See ATP6V1F Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1F

    SOURCE GeneReport for Unigene cluster: Hs.78089
        SABiosciences Custom PCR Arrays for ATP6V1F
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1F gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1f1 , 5 ATPase, H+ transporting, lysosomal V1 subunit F1, 5 91.04(n)1
    98.32(a)1
      6 (12.36 cM)5
    661441  NM_025381.21  NP_079657.11 
     294677185 
    African clawed frog
    (Xenopus laevis)
    Amphibia atp6v1f-A2 ATPase, H+ transporting, lysosomal 14kDa, V1 subunit more 76.05(n)    BC060343.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.136582 Transcribed sequence with moderate similarity to protein more 78.48(n)    BI326309.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha143
    Vha14-11
    proton transport hydrogen-transporting
    two-sector more3
    Vacuolar H[+] ATPase subunit 14-11
    72(a)
    (best of 2)3
    71.01(n)1
    72.17(a)1
      52B53
    367311  NM_057621.41  NP_476969.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK970.43
    vha-91
    H+-transporting ATPase3
    Protein VHA-91
    70(a)3
    66.95(n)1
    70.34(a)1
      II(10302916-10303715)3
    1745961  NM_063816.41  NP_496217.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA7(YGR020C)4
    VMA71
    Subunit F of the eight-subunit V1 peripheral membrane more4
    Vma7p1
    55.56(n)1
    53.51(a)1
      7(527329-526973)4
    8529031, 4  NP_011534.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G026201 V-type proton ATPase subunit F 58.69(n)
    51.28(a)
      828221  NM_116496.3  NP_192171.1 
    rice
    (Oryza sativa)
    Liliopsida BX899352.12   -- 72.89(n)    BX899352.1 


    ENSEMBL Gene Tree for ATP6V1F (if available)
    TreeFam Gene Tree for ATP6V1F (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V1F gene

    ATP6V1F for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ATP6V1F
    PGOHUM00000261142 PGOHUM00000243601


    (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

    10/68 SNPs in ATP6V1F are shown (see all 68)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1819971391,2
    --128500964(+) CGGGAA/GTGCTG 2 -- us2k10--------
    rs1478243601,2
    C--128501163(+) TATCT-/AAATATC 2 -- us2k10--------
    rs610339551,2
    C--128501241(+) TCACAG/ATGGCC 2 -- us2k16Minor allele frequency- A:0.19CSA WA NA EA 362
    rs1175693861,2
    C,F--128501276(+) AGTTTC/TGCCTC 2 -- us2k11Minor allele frequency- T:0.01NA 120
    rs47315191,2
    C,F--128501484(+) ctcacC/Tgcaac 2 -- us2k111Minor allele frequency- T:0.19NA WA CSA EA 372
    rs1859826901,2
    --128501518(+) TTGTCC/GTGCCT 2 -- us2k10--------
    rs1121047861,2
    C,F--128501559(+) CACACC/TACCTC 2 -- us2k12Minor allele frequency- T:0.05CSA NA 122
    rs1892439021,2
    --128501702(+) CACCGC/TGCCCA 2 -- us2k10--------
    rs1115253511,2
    C,F--128501734(+) TTTTTA/TAGACA 2 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs102392111,2
    C--128501736(+) ttttaA/Gacagg 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6V1F (128502857 - 128505903 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for ATP6V1F (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735137CNV Deletion23290073
    esv2670312CNV Deletion23128226
    nsv464715CNV Loss19166990
    nsv831125CNV Loss17160897
    nsv464713CNV Loss19166990
    nsv464717CNV Loss19166990
    dgv7490n71CNV Loss21882294
    nsv889192CNV Loss21882294
    nsv517923CNV Gain19592680
    esv22837CNV Gain19812545

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    (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: 607160    OMIM disorders: --

    7 diseases for ATP6V1F:    About MalaCards
    osteopetrosis    cholera    rheumatoid arthritis    prostatitis
    arthritis    prostate cancer    tuberculosis


    ATP6V1F for disorders           About GeneDecksing


    Export disorders for ATP6V1F 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 ATP6V1F gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with ATP6V1F)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, sequencing and expression of a novel cDNA encoding human vacuolar ATPase (14-kDa subunit). (PubMed id 8581736)1, 2, 3 Fujiwara T.... Shin S. (1995)
    2. 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)
    3. Identification of a 14-kDa subunit associated with the catalytic sector of clathrin-coated vesicle H+-ATPase. (PubMed id 8621738)1, 3 Peng S.B....Stone D.K. (1996)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    7. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (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: 9296 HGNC: 16832 AceView: ATP6V1F Ensembl:ENSG00000128524 euGenes: HUgn9296
    ECgene: ATP6V1F Kegg: 9296 H-InvDB: ATP6V1F

    (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 ATP6V1F Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP6V1F Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V1F gene:
    Search GeneIP for patents involving ATP6V1F

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



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