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Aliases for ATP6V1F Gene

Aliases for ATP6V1F Gene

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

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. Among its related pathways are Rheumatoid arthritis and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include proton transmembrane transporter activity and ATPase coupled ion transmembrane transporter activity.

UniProtKB/Swiss-Prot 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

Additional gene information for ATP6V1F Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1F Gene

Genomics for ATP6V1F Gene

GeneHancer (GH) Regulatory Elements for ATP6V1F Gene

Promoters and enhancers for ATP6V1F Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J128862 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 655.8 +0.4 402 2.4 HDGF HNRNPUL1 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ATP6V1F FLNC-AS1 ENSG00000243302 ENSG00000230715 ENSG00000243679 ENSG00000242588 TNPO3 ENSG00000229413 RPS10P15 ENSG00000273270
GH07J128932 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.7 +71.6 71637 3.3 HDGF PKNOX1 STAT5A BATF KLF5 IRF4 ZNF335 ZNF143 ATF7 ETV6 IRF5 ATP6V1F KCP ENSG00000242162 FLNC FLNC-AS1 TSPAN33 TNPO3 TPI1P2 LOC392787
GH07J128936 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.8 +76.8 76783 5.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A IRF4 GLIS2 ZNF207 ZNF143 ATF7 IRF5 GC07P128994 GC07P128999 GC07P128987 GC07P128989 KCP ENSG00000242162 FLNC ATP6V1F FLNC-AS1
GH07J128826 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.8 -30.4 -30368 11.9 HDGF PKNOX1 SMAD1 FOXA2 ARNT SIN3A POLR2B E2F8 FOS ZNF263 FLNC ENSG00000243679 ENSG00000230715 ENSG00000243302 NRF1 ENSG00000229413 ENSG00000271553 ENSG00000242588 TNPO3 CCDC136
GH07J129099 Enhancer 1.1 Ensembl ENCODE 10.8 +239.2 239242 4.4 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 RXRA MIER2 REST TSPAN33 ENSG00000242162 TPI1P2 TNPO3 ATP6V1F FLNC-AS1 ENSG00000243230 AHCYL2 ENSG00000241573 CYCSP20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V1F on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V1F gene promoter:

Genomic Locations for ATP6V1F Gene

Genomic Locations for ATP6V1F Gene
chr7:128,862,803-128,865,849
(GRCh38/hg38)
Size:
3,047 bases
Orientation:
Plus strand
chr7:128,502,857-128,505,903
(GRCh37/hg19)

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 posLast=102102 and Lys94
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1F Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Suggested Antigen Peptide Sequences for ATP6V1F Gene

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:0042624 ATPase activity, uncoupled NAS 8581736
GO:0042625 ATPase coupled ion transmembrane transporter activity IBA --
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 Model Products

  • Taconic Biosciences Mouse Models for ATP6V1F

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ATP6V1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane 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:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0
Thonzonium Bromide Pharma surface active agent and inhibitor of V-ATPase proton transport 0

(2) 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2

(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

Transcripts for ATP6V1F Gene

mRNA/cDNA for ATP6V1F Gene

(403) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP6V1F Gene

ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for ATP6V1F Gene

GeneLoc Exon Structure for
ATP6V1F
ECgene alternative splicing isoforms for
ATP6V1F

Expression for ATP6V1F Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1F Gene:

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(2.8)
  • Lung(2.7)
  • Kidney(2.5)
  • Skin(2.4)
  • Heart(2.3)
  • Spleen(2.3)
  • Intestine(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with ATP6V1F: view

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 34 33
  • 99.72 (n)
OneToMany
-- 34
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 98 (a)
OneToMany
ATP6V1F 34 33
  • 92.44 (n)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1F 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1F 34 33
  • 91.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1f 16 34 33
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1f 33
  • 90.76 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1f 33
  • 74.79 (n)
Str.8618 33
African clawed frog
(Xenopus laevis)
Amphibia atp6v1f-A 33
zebrafish
(Danio rerio)
Actinopterygii atp6v1f 34 33
  • 75.91 (n)
OneToOne
Dr.13658 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4942 33
fruit fly
(Drosophila melanogaster)
Insecta Vha14 35
  • 72 (a)
Vha14-1 33
  • 70.37 (n)
CG1076 35
  • 60 (a)
Vha14-2 34
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta VATF_ANOGA 33
  • 67.24 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK970.4 35
  • 70 (a)
vha-9 34 33
  • 66.95 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL052W 33
  • 58.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA7 36 34 33
  • 55.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04400g 33
  • 52.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02620 33
  • 60.73 (n)
rice
(Oryza sativa)
Liliopsida Os02g0824700 33
  • 61.58 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6353 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 69 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04387 33
  • 57.8 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma7 33
  • 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 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

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 from dbSNP and Humsavar for ATP6V1F Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000214778 -- 128,864,153(+) G/C intron_variant
rs1000439526 -- 128,862,480(+) GTGTGT/GTGT upstream_transcript_variant
rs1000552330 -- 128,862,782(+) A/C/G upstream_transcript_variant
rs1000842254 -- 128,864,168(+) A/G intron_variant
rs1001162110 -- 128,866,041(+) G/T downstream_transcript_variant

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

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

Disorders for ATP6V1F Gene

Additional Disease Information for ATP6V1F

No disorders were found for ATP6V1F Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for ATP6V1F Gene

Sources for ATP6V1F Gene

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