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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
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Genomic context

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See ATP6V1F in Genome Data Viewer
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

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