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

ATP6V1F Gene

protein-coding   GIFtS: 60
GCID: GC07P128502

ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F
 Explore 10 diseases affiliated with
ATP6V1F via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP6V1F    

Aliases
for ATP6V1F gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, H+ Transporting, Lysosomal 14kDa, V1 Subunit F1 2     Adenosinetriphosphatase 14k Chain2
ATP6S141 2 3     ATPase, Vacuolar, 14 KD2
VATF1 2 3     H(+)-Transporting Two-Sector ATPase, 14kD Subunit2
Vma71 2     V-ATPase F Subunit2
Vacuolar Proton Pump Subunit F2 3     V-Type Proton ATPase Subunit F2
V-ATPase 14 KDa Subunit2 3     Vacuolar ATP Synthase Subunit F2
V-ATPase Subunit F2 3     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


Summaries
for ATP6V1F gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATP6V1F:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  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 plasmid: ATP6V1F 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:
 128,502,880 bp from pter      End:
 128,505,902 bp from pter
Size:
 3,023 bases      Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,886,643-127,889,647     

Proteins
for ATP6V1F gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16864

    • ATP6V1F Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000249289   ENSP00000417378  
    Reactome Protein details: Q16864
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: ATP6V1F
    OriGene Protein Over-expression Lysate: ATP6V1F
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    Novus Biologicals ATP6V1F Proteins
    Novus Biologicals ATP6V1F Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for ATP6V1F

    Protein Domains /
    Families
    for ATP6V1F gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP6V1F for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: IPB008218 Vacuolar H+-transporting two-sector ATPase

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


    Function
    for ATP6V1F gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    hsa-let-7b (MIRT001650)

    OriGene 3'-UTR Clone: ATP6V1F
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP6V1F:
    hsa-miR-185 hsa-miR-4306 hsa-miR-194 hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V1F 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    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: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:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--


    ATP6V1F for ontologies           About GeneDecksing


    Animal Models:
         1 MGI phenotypic allele for Atp6v1f (no phenotypes)

    ATP6V1F for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATP6V1F gene

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

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    		Insulin receptor recycling1.00
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    		Transferrin endocytosis and recycling0.79
    		Iron uptake and transport0.56
    		Collecting duct acid secretion0.68
    		Vibrio cholerae infection0.41
    		Phagosomal maturation (early endosomal stage)0.64
    		Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    		Disease1.00
    3Rheumatoid arthritis
    		Rheumatoid arthritis1.00
    4Phagosome
    		Phagosome1.00
    5IRS-related events
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for 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


    5/7         Kegg Pathways  (Kegg details for ATP6V1F) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    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)

    5/87 Interacting proteins for ATP6V1F (Q168642, 3 ENSP000002492894) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIAA1377Q9P2H02, 3MINT-64623 I2D: score=5 
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    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



    Drugs & Compounds
    for ATP6V1F gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V1F:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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 

    Transcripts
    for ATP6V1F gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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)

    miRNA
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    hsa-miR-185 hsa-miR-4306 hsa-miR-194 hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V1F 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V1F (see all 7)
    OriGene shRNA RFP: ATP6V1F
    OriGene siRNA: ATP6V1F
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1F
    Clone
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    Primer
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    Additional cDNA 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):

    AI031671 CF129293 AA620515 R35878 BQ678545 CA432301 BE614682 BQ640150 
    BQ961626 AA340124 CD672528 AW583568 BU948261 H56387 AA758242 BU727737 
    BQ613812 BQ071042 F08542 BU162435 BU736452 BU956696 CD369030 AA664077 

    GeneLoc Exon Structure


    Expression
    for ATP6V1F gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6V1F expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCACTGCCG

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

    ATP6V1F expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeVentral Foregut EndodermGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Primer
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    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for ATP6V1F

    Orthologs
    for ATP6V1F gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1F gene from 8/34 species (see all 34)    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
    for ATP6V1F gene

    (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


    Genomic Variants
    for ATP6V1F gene

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

    10/105 NCBI SNPs in ATP6V1F are shown (see all 105)     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
    		--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,--128501559(+) CACACC/TACCTC 2 -- us2k12Minor allele frequency- T:0.05CSA NA 122
    rs1892439021,2
    		--128501702(+) CACCGC/TGCCCA 2 -- us2k10--------
    rs1115253511,2
    		--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 (128502880 - 128505902 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ATP6V1F
         5 CNVs: 70039 52084 4559 9584 52083

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    Disorders / Diseases
    for ATP6V1F gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATP6V1F for disorders           About GeneDecksing

    OMIM gene information: 607160    OMIM disorders: --

    10 diseases for ATP6V1F:    About MalaCards
    osteopetrosis    rheumatoid arthritis    cholera    colon carcinoma
    arthritis    prostate carcinoma    prostatitis    prostate cancer
    carcinoma    malaria


    Export disorders for ATP6V1F gene to outside databases

    Publications
    for ATP6V1F gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP6V1F gene, integrated from 9 sources (see all 34):
    (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)

    External Searches for ATP6V1F gene

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

    Genome Databases showing ATP6V1F gene

    (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

    Other Databases showing ATP6V1F gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V1F gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP6V1F Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP6V1F Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for ATP6V1F gene

    (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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