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    ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F [ Homo sapiens ]

    Gene ID: 9296, updated on 19-May-2012
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    Summary

    Official Symbol
    ATP6V1Fprovided by HGNC
    Official Full Name
    ATPase, H+ transporting, lysosomal 14kDa, V1 subunit Fprovided by HGNC
    Primary source
    HGNC:16832
    See related
    Ensembl:ENSG00000128524; HPRD:06198; MIM:607160; Vega:OTTHUMG00000158365
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VATF; Vma7; ATP6S14; MGC117321; MGC126037; MGC126038
    Summary
    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]
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    Genomic context

    Location :
    7q32
    Sequence :
    Chromosome: 7; NC_000007.13 (128502857..128505903)
    See ATP6V1F in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 136 Neighboring gene filamin C, gamma Neighboring gene uncharacterized LOC100130705 Neighboring gene kielin/chordin-like protein

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Biological effects of a new vacuolar-H,-ATPase inhibitor in colon carcinoma cell lines. Supino R, et al. Ann N Y Acad Sci, 2009 Aug. PMID 19723111.
    5. The d subunit plays a central role in human vacuolar H(+)-ATPases. Smith AN, et al. J Bioenerg Biomembr, 2008 Aug. PMID 18752060.

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Results show that NiK-12192, by affecting vacuolar- H(+)-ATPase activity (and intracellular pH), causes a modification of structures crucial for cell adhesion and induces cell death, likely by a modality involving an anoikis-mediated apoptosis.
      Title: Biological effects of a new vacuolar-H,-ATPase inhibitor in colon carcinoma cell lines.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q16864 Q9P2H0 KIAA1377    HPRD  PubMed  
    BioGRID:114710 BioGRID:121617 KIAA1377    BioGRID  PubMed Two-hybrid 
    BioGRID:114710 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
      Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Collecting duct acid secretion, conserved biosystem (from KEGG)
      Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystem (from KEGG)
      Epithelial cell signaling in Helicobacter pylori infection, organism-specific biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
    • Epithelial cell signaling in Helicobacter pylori infection, conserved biosystem (from KEGG)
      Epithelial cell signaling in Helicobacter pylori infection, conserved biosystemTwo major virulence factors of H. pylori are the vacuolating cytotoxin (VacA) and the cag type-IV secretion system (T4SS) and its translocated effector protein, cytotoxin-associated antigen A (CagA)....
    • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
      Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
      Oxidative phosphorylation, organism-specific biosystem
      Oxidative phosphorylation
    • Oxidative phosphorylation, conserved biosystem (from KEGG)
      Oxidative phosphorylation, conserved biosystem
      Oxidative phosphorylation
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
      Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Synaptic vesicle cycle, conserved biosystem (from KEGG)
      Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
    • Transferrin endocytosis and recycling, organism-specific biosystem (from REACTOME)
      Transferrin endocytosis and recycling, organism-specific biosystemEndocytosis of iron loaded transferrin/receptor complex leads, after acidification of the endosome, to the separation of iron and its diffusion out of the vesicle. The endosome is not fused with a ly...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • V-type ATPase, eukaryotes, organism-specific biosystem (from KEGG)
      V-type ATPase, eukaryotes, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
    • V-type ATPase, eukaryotes, conserved biosystem (from KEGG)
      V-type ATPase, eukaryotes, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
    • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
      Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • Vibrio cholerae infection, conserved biosystem (from KEGG)
      Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase activity, uncoupled NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    hydrogen ion transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    hydrogen ion transporting ATP synthase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    ATP hydrolysis coupled proton transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    		  
    insulin receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    transferrin transport TAS
    Traceable Author Statement
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    membrane fraction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    proton-transporting V-type ATPase, V1 domain IEA
    Inferred from Electronic Annotation
    more info
    		  
    proton-transporting two-sector ATPase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    vacuolar proton-transporting V-type ATPase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    V-type proton ATPase subunit F
    Names
    V-type proton ATPase subunit F
    V-ATPase F subunit
    V-ATPase subunit F
    ATPase, vacuolar, 14 kD
    V-ATPase 14 kDa subunit
    vacuolar proton pump F subunit
    vacuolar proton pump subunit F
    vacuolar ATP synthase subunit F
    adenosinetriphosphatase 14k chain
    H(+)-transporting two-sector ATPase, 14kD subunit
    NP_001185838.1
    NP_004222.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001198909.1 → NP_001185838.1  V-type proton ATPase subunit F isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate, in-frame, exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is longer when it is compared to isoform 1.
      Source sequence(s)
      BC107854, BU683155, BU956696, DB499437
      Consensus CDS
      CCDS56511.1
      UniProtKB/TrEMBL
      C9J2K4
      UniProtKB/Swiss-Prot
      Q16864
      Related
      ENSP00000417378, OTTHUMP00000212842, ENST00000492758, OTTHUMT00000350801
      Conserved Domains (1) summary
      cl00632
      Location:1 – 143
      Blast Score: 535
      ATP-synt_F; ATP synthase (F/14-kDa) subunit

    2. NM_004231.3 → NP_004222.2  V-type proton ATPase subunit F isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript.
      Source sequence(s)
      BC107854, BU683155, DB499437
      Consensus CDS
      CCDS5807.1
      UniProtKB/TrEMBL
      A4D1K0
      UniProtKB/Swiss-Prot
      Q16864
      Related
      ENSP00000249289, OTTHUMP00000212841, ENST00000249289, OTTHUMT00000350800
      Conserved Domains (1) summary
      cl00632
      Location:1 – 115
      Blast Score: 567
      ATP-synt_F; ATP synthase (F/14-kDa) subunit

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      128502857..128505903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      122864496..122867540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      127886602..127889648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC025594.5 (51993..54997) None
    genomic CH236950.1 EAL24110.1
    genomic CH471070.1 EAW83692.1
      EAW83693.1
    genomic Z55117.1 None
    genomic Z61564.1 None
    mRNA AK312214.1 BAG35147.1
    mRNA BC104230.1 AAI04231.1
    mRNA BC104231.1 AAI04232.1
    mRNA BC107854.1 AAI07855.1
    mRNA BG724326.1 None
    mRNA BU683155.1 None
    mRNA BU956696.1 None
    mRNA CR456896.1 CAG33177.1
    mRNA D49400.1 BAA08392.1
    mRNA DB499437.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16864.2 GenPept UniProtKB/Swiss-Prot:Q16864
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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