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... See more...

Aliases for ATP6V1F Gene

Aliases for ATP6V1F Gene

  • ATPase H+ Transporting V1 Subunit F 2 3 5
  • ATP6S14 2 3 4
  • VATF 2 3 4
  • ATPase, H+ Transporting, Lysosomal 14kDa, V1 Subunit F 2 3
  • V-Type Proton ATPase Subunit F 3 4
  • Vacuolar Proton Pump Subunit F 3 4
  • V-ATPase 14 KDa Subunit 3 4
  • V-ATPase Subunit F 3 4
  • Vma7 2 3
  • H(+)-Transporting Two-Sector ATPase, 14kD Subunit 3
  • Adenosinetriphosphatase 14k Chain 3
  • Vacuolar ATP Synthase Subunit F 3
  • Vacuolar Proton Pump F Subunit 3
  • ATPase, Vacuolar, 14 KD 3
  • V-ATPase F Subunit 3
  • ATP6V1F 5

External Ids for ATP6V1F Gene

Previous GeneCards Identifiers for ATP6V1F Gene

  • GC07P126980
  • GC07P128043
  • GC07P128056
  • GC07P128096
  • GC07P128290
  • GC07P128502
  • GC07P122864

Summaries for ATP6V1F Gene

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 V1 Subunit F) is a Protein Coding gene. Diseases associated with ATP6V1F include Cardiomyopathy, Dilated, 1M and Hermansky-Pudlak Syndrome 3. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include proton transmembrane transporter activity and ATPase coupled ion transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary for ATP6V1F Gene

  • 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.

Tocris 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 and endosomes.

Gene Wiki entry for ATP6V1F Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1F Gene

Genomics for ATP6V1F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1F Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1F

Top Transcription factor binding sites by QIAGEN in the ATP6V1F gene promoter:
  • CUTL1
  • FAC1
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • MRF-2
  • Nkx2-5
  • Pbx1a

Genomic Locations for ATP6V1F Gene

Latest Assembly
chr7:128,862,856-128,865,847
(GRCh38/hg38)
Size:
2,992 bases
Orientation:
Plus strand

Previous Assembly
chr7:128,502,910-128,505,901
(GRCh37/hg19 by Entrez Gene)
Size:
2,992 bases
Orientation:
Plus strand

chr7:128,502,880-128,505,898
(GRCh37/hg19 by Ensembl)
Size:
3,019 bases
Orientation:
Plus strand

Genomic View for ATP6V1F Gene

Genes around ATP6V1F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1F Gene

Proteins for ATP6V1F Gene

  • Protein details for ATP6V1F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16864-VATF_HUMAN
    Recommended name:
    V-type proton ATPase subunit F
    Protein Accession:
    Q16864
    Secondary Accessions:
    • C9J2K4
    • Q6IBA8

    Protein attributes for ATP6V1F Gene

    Size:
    119 amino acids
    Molecular mass:
    13370 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for ATP6V1F Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1F Gene

Post-translational modifications for ATP6V1F Gene

  • Ubiquitination at Lys94 and Lys102
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1F Gene

No data available for DME Specific Peptides for ATP6V1F Gene

Domains & Families for ATP6V1F Gene

Gene Families for ATP6V1F Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1F Gene

InterPro:
Blocks:
  • Vacuolar H+-transporting two-sector ATPase, F subunit

Suggested Antigen Peptide Sequences for ATP6V1F Gene

GenScript: Design optimal peptide antigens:
  • V-type proton ATPase subunit F (A4D1K0_HUMAN)
  • V-type proton ATPase subunit F (C9J2K4_HUMAN)
  • Vacuolar proton pump subunit F (VATF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16864

UniProtKB/Swiss-Prot:

VATF_HUMAN :
  • Belongs to the V-ATPase F subunit family.
Family:
  • Belongs to the V-ATPase F subunit family.
genes like me logo Genes that share domains with ATP6V1F: view

Function for ATP6V1F Gene

Molecular function for ATP6V1F Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ATP6V1F Gene

Gene Ontology (GO) - Molecular Function for ATP6V1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18752060
GO:0015078 proton transmembrane transporter activity NAS 8581736
GO:0016887 ATPase activity NAS 8581736
GO:0042625 ATPase coupled ion transmembrane transporter activity IBA 21873635
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP6V1F: view
genes like me logo Genes that share phenotypes with ATP6V1F: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ATP6V1F

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1F

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1F Gene

Localization for ATP6V1F Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1F gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6V1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA,IDA 18752060
GO:0016469 proton-transporting two-sector ATPase complex NAS 8581736
GO:0016471 vacuolar proton-transporting V-type ATPase complex IDA 18752060
GO:0033180 proton-transporting V-type ATPase, V1 domain IEA --
genes like me logo Genes that share ontologies with ATP6V1F: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ATP6V1F Gene

Pathways & Interactions for ATP6V1F Gene

genes like me logo Genes that share pathways with ATP6V1F: view

Gene Ontology (GO) - Biological Process for ATP6V1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
GO:0090383 phagosome acidification TAS --
genes like me logo Genes that share ontologies with ATP6V1F: view

No data available for SIGNOR curated interactions for ATP6V1F Gene

Drugs & Compounds for ATP6V1F Gene

(7) Drugs for ATP6V1F Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0
Phosphate Experimental Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0

(1) Additional Compounds for ATP6V1F Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(2) Tocris Compounds for ATP6V1F Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7

(2) ApexBio Compounds for ATP6V1F Gene

Compound Action Cas Number
Concanamycin A V-type (vacuolar) H+-ATPase inhibitor 80890-47-7
Thonzonium Bromide surface active agent and inhibitor of V-ATPase proton transport 553-08-2
genes like me logo Genes that share compounds with ATP6V1F: view

Drug products for research

Transcripts for ATP6V1F Gene

mRNA/cDNA for ATP6V1F Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1F

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1F Gene

No ASD Table

Relevant External Links for ATP6V1F Gene

GeneLoc Exon Structure for
ATP6V1F

Expression for ATP6V1F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V1F Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6V1F Gene

This gene is overexpressed in Brain (16.5) and Frontal cortex (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6V1F Gene



Protein tissue co-expression partners for ATP6V1F Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1F

SOURCE GeneReport for Unigene cluster for ATP6V1F Gene:

Hs.78089

Evidence on tissue expression from TISSUES for ATP6V1F Gene

  • Nervous system(4.8)
  • Muscle(3.1)
  • Skin(2.9)
  • Kidney(2.9)
  • Lung(2.7)
  • Heart(2.6)
  • Liver(2.4)
  • Spleen(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with ATP6V1F: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1F Gene

Orthologs for ATP6V1F Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1F Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP6V1F 29 30
  • 99.72 (n)
OneToMany
-- 30
  • 99 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 30
  • 98 (a)
OneToMany
ATP6V1F 29 30
  • 92.44 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1F 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6V1F 29 30
  • 91.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v1f 29 16 30
  • 91.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1f 29
  • 90.76 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1f 29
  • 74.79 (n)
Str.8618 29
African clawed frog
(Xenopus laevis)
Amphibia atp6v1f-A 29
Zebrafish
(Danio rerio)
Actinopterygii atp6v1f 29 30
  • 75.91 (n)
OneToOne
Dr.13658 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4942 29
Fruit Fly
(Drosophila melanogaster)
Insecta Vha14 31
  • 72 (a)
Vha14-1 29
  • 70.37 (n)
CG1076 31
  • 60 (a)
Vha14-2 30
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta VATF_ANOGA 29
  • 67.24 (n)
Worm
(Caenorhabditis elegans)
Secernentea ZK970.4 31
  • 70 (a)
vha-9 29 30
  • 66.95 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGL052W 29
  • 58.48 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA7 29 30 32
  • 55.56 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04400g 29
  • 52.92 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G02620 29
  • 60.73 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0824700 29
  • 61.58 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.6353 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 69 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU04387 29
  • 57.8 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma7 29
  • 54.21 (n)
Species where no ortholog for ATP6V1F was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP6V1F Gene

ENSEMBL:
Gene Tree for ATP6V1F (if available)
TreeFam:
Gene Tree for ATP6V1F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1F: view image
Alliance of Genome Resources:
Additional Orthologs for ATP6V1F

Paralogs for ATP6V1F Gene

Pseudogenes.org Pseudogenes for ATP6V1F Gene

genes like me logo Genes that share paralogs with ATP6V1F: view

No data available for Paralogs for ATP6V1F Gene

Variants for ATP6V1F Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1F Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs10958 -- p.Gly24Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6V1F Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1F Gene

Variant ID Type Subtype PubMed ID
dgv11611n54 CNV loss 21841781
dgv11612n54 CNV loss 21841781
esv22837 CNV gain 19812545
esv2670312 CNV deletion 23128226
esv2735137 CNV deletion 23290073
nsv464713 CNV loss 19166990
nsv464715 CNV loss 19166990
nsv464717 CNV loss 19166990
nsv470392 CNV gain 18288195
nsv517371 CNV gain+loss 19592680
nsv517923 CNV gain 19592680
nsv608409 CNV loss 21841781
nsv818553 CNV gain 17921354
nsv831125 CNV loss 17160897
nsv970577 CNV duplication 23825009

Variation tolerance for ATP6V1F Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1F
Leiden Open Variation Database (LOVD)
ATP6V1F

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1F Gene

Disorders for ATP6V1F Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP6V1F Gene - From: COP

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1m
  • cmd1m
hermansky-pudlak syndrome 3
  • hps3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V1F

genes like me logo Genes that share disorders with ATP6V1F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V1F Gene

Publications for ATP6V1F Gene

  1. Cloning, sequencing and expression of a novel cDNA encoding human vacuolar ATPase (14-kDa subunit). (PMID: 8581736) Fujiwara T … Watanabe T (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Identification of a 14-kDa subunit associated with the catalytic sector of clathrin-coated vesicle H+-ATPase. (PMID: 8621738) Peng SB … Stone DK (The Journal of biological chemistry 1996) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3

Products for ATP6V1F Gene

Sources for ATP6V1F Gene