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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 Insulin receptor recycling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include hydrogen ion 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

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

Genomics for ATP6V1F Gene

Regulatory Elements for ATP6V1F Gene

Enhancers for ATP6V1F Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G128932 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.7 +71.6 71638 3.3 HDGF TBP PKNOX1 WRNIP1 SIN3A ZBTB40 ZNF143 RELB ETV6 IKZF2 IRF5 ATP6V1F KCP ENSG00000242162 FLNC FLNC-AS1 TSPAN33 TNPO3 TPI1P2 LOC392787
GH07G129099 1.3 Ensembl ENCODE 10.8 +239.2 239242 4.4 HDGF HNRNPUL1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 TSPAN33 TNPO3 ENSG00000242162 TPI1P2 ENSG00000243679 ENSG00000230715 ENSG00000243302 RBM28 ENSG00000242588 ATP6V1F
GH07G128814 1.2 ENCODE dbSUPER 11.5 -47.9 -47907 1.1 HDGF ATF1 PKNOX1 ARNT YY1 ZNF766 GATA2 ELK1 KDM4B ZNF263 CCDC136 OPN1SW FLNC-AS1 ATP6V1F IMP3P2 FAM71F2 ENSG00000241493 FAM71F1 CALU GC07P128876
GH07G128936 1.2 ENCODE dbSUPER 10.8 +76.8 76783 5.5 HDGF PKNOX1 WRNIP1 ARID4B SIN3A GLIS2 ELK1 ZNF143 ZNF207 KLF7 IRF5 KCP ENSG00000242162 FLNC ATP6V1F FLNC-AS1 TNPO3 TPI1P2 TSPAN33 ENSG00000271553
GH07G128937 1.1 ENCODE dbSUPER 10.8 +73.6 73599 0.2 ELF3 ARID4B THRB ZSCAN9 ZBTB40 RARA YY1 CREM MIXL1 THAP11 KCP ENSG00000242162 FLNC FLNC-AS1 ATP6V1F TSPAN33 TNPO3 TPI1P2 IRF5 LOC392787
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V1F on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1F Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000217789 397 1601 HDGF PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for ATP6V1F Gene

Chromosome:
7
Start:
128,862,803 bp from pter
End:
128,865,849 bp from pter
Size:
3,047 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 posLast=9494 and Lys102
  • 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 :

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.

Gene Ontology (GO) - Molecular Function for ATP6V1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18752060
GO:0015078 hydrogen ion 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

Phenotypes for ATP6V1F Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP6V1F

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport NAS 8581736
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thonzonium bromide Approved Pharma surface active agent and inhibitor of V-ATPase proton transport 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 37
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(3) 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
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8

(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

Transcripts for ATP6V1F Gene

mRNA/cDNA for ATP6V1F Gene

Unigene Clusters for ATP6V1F Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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, PaxDb, 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

Primer Products

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 35
  • 99.72 (n)
-- 35
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 98 (a)
OneToMany
ATP6V1F 34 35
  • 92.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1F 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1F 34 35
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Atp6v1f 34 16 35
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1f 34
  • 90.76 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1f 34
  • 74.79 (n)
Str.8618 34
African clawed frog
(Xenopus laevis)
Amphibia atp6v1f-A 34
zebrafish
(Danio rerio)
Actinopterygii atp6v1f 34 35
  • 75.91 (n)
Dr.13658 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4942 34
fruit fly
(Drosophila melanogaster)
Insecta Vha14 36
  • 72 (a)
Vha14-1 34
  • 70.37 (n)
CG1076 36
  • 60 (a)
Vha14-2 35
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta VATF_ANOGA 34
  • 67.24 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK970.4 36
  • 70 (a)
vha-9 34 35
  • 66.95 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL052W 34
  • 58.48 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA7 34 35 37
  • 55.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04400g 34
  • 52.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02620 34
  • 60.73 (n)
rice
(Oryza sativa)
Liliopsida Os02g0824700 34
  • 61.58 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6353 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 69 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04387 34
  • 57.8 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma7 34
  • 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)

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 Sequence Context AA Info Type
rs1000214778 -- 128,864,153(+) AGCCT(C/G)ACCAA intron-variant
rs1000439526 -- 128,862,480(+) CAAAC(-/GT)GTGTT upstream-variant-2KB
rs1000552330 -- 128,862,782(+) CCGGA(A/C/G)TGCGG upstream-variant-2KB
rs1000842254 -- 128,864,168(+) GTGAA(A/G)CCCCA intron-variant
rs1001162110 -- 128,866,041(+) GAGGA(G/T)GCTTG downstream-variant-500B, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for ATP6V1F

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. … Shin S. (DNA Res. 1995) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Identification of a 14-kDa subunit associated with the catalytic sector of clathrin-coated vesicle H+-ATPase. (PMID: 8621738) Peng S.B. … Stone D.K. (J. Biol. Chem. 1996) 2 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for ATP6V1F Gene

Sources for ATP6V1F Gene

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