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    ATP6V1F ATPase H+ transporting V1 subunit F [ Homo sapiens (human) ]

    Gene ID: 9296, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ATP6V1Fprovided by HGNC
    Official Full Name
    ATPase H+ transporting V1 subunit Fprovided by HGNC
    Primary source
    HGNC:HGNC:16832
    See related
    Ensembl:ENSG00000128524 MIM:607160; AllianceGenome:HGNC:16832
    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
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 97.5), brain (RPKM 77.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q32.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128862856..128865847)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130175783..130178774)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128502910..128505901)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr7:128431137-128431405 Neighboring gene coiled-coil domain containing 136 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:128470516-128470677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128473526-128474169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128482493-128482997 Neighboring gene filamin C Neighboring gene FLNC antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128498247-128498747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18619 Neighboring gene sperm microtubule inner protein 1 Neighboring gene Sharpr-MPRA regulatory region 1680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128524773-128525372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128529996-128530586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128530587-128531176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128531177-128531767 Neighboring gene uncharacterized LOC105375497 Neighboring gene kielin cysteine rich BMP regulator Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:128532717-128533916

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Cloning, sequencing and expression of a novel cDNA encoding human vacuolar ATPase (14-kDa subunit). Fujiwara T, et al. DNA Res, 1995 Jun 30. PMID 8581736
    3. The d subunit plays a central role in human vacuolar H(+)-ATPases. Smith AN, et al. J Bioenerg Biomembr, 2008 Aug. PMID 18752060, Free PMC Article
    4. Structure and Roles of V-type ATPases. Vasanthakumar T, et al. Trends Biochem Sci, 2020 Apr. PMID 32001091
    5. Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly. Wang L, et al. Mol Cell, 2020 Nov 5. PMID 33065002, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117321, MGC126037, MGC126038

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase-coupled ion transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi lumen acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in endosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular pH reduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in lysosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vacuolar acidification NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of proton-transporting V-type ATPase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transmembrane transporter complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of vacuolar proton-transporting V-type ATPase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    V-type proton ATPase subunit F
    Names
    ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F
    ATPase, vacuolar, 14 kD
    H(+)-transporting two-sector ATPase, 14kD subunit
    V-ATPase 14 kDa subunit
    V-ATPase F subunit
    V-ATPase subunit F
    adenosinetriphosphatase 14k chain
    vacuolar ATP synthase subunit F
    vacuolar proton pump F subunit
    vacuolar proton pump subunit F
    NP_001185838.1
    NP_004222.2

    NCBI Reference Sequences (RefSeq)

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    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_001198909.2 → NP_001185838.1  V-type proton ATPase subunit F isoform 2

      See identical proteins and their annotated locations for NP_001185838.1

      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
      Consensus CDS
      CCDS56511.1
      UniProtKB/Swiss-Prot
      Q16864
      Related
      ENSP00000417378.1, ENST00000492758.1
      Conserved Domains (1) summary
      TIGR01101
      Location:1 → 143
      V_ATP_synt_F; vacuolar ATP synthase F subunit

    2. NM_004231.4 → NP_004222.2  V-type proton ATPase subunit F isoform 1

      See identical proteins and their annotated locations for NP_004222.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript.
      Source sequence(s)
      BC107854, BU683155
      Consensus CDS
      CCDS5807.1
      UniProtKB/Swiss-Prot
      C9J2K4, Q16864, Q6IBA8
      UniProtKB/TrEMBL
      A4D1K0
      Related
      ENSP00000249289.4, ENST00000249289.5
      Conserved Domains (1) summary
      TIGR01101
      Location:1 → 115
      V_ATP_synt_F; vacuolar ATP synthase F subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      128862856..128865847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130175783..130178774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16864.2 GenPept UniProtKB/Swiss-Prot:Q16864

    Gene LinkOut

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

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