• Gene id: 9296

Gene Summary

• Gene Symbol: ATP6V1F   Gene   UCSC   Ensembl
• Aliases: ATP6S14, VATF, Vma7
• Gene name: ATPase H+ transporting V1 subunit F
• Alternate names: V-type proton ATPase subunit F, 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,
• Gene location: 7q32.1 (128862855: 128865846)     Exons: 3     NC_000007.14
• Gene summary(Entrez): 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 sort
• OMIM: 182099

Protein Summary

• Protein general information: Q16864  
  • Name: V type proton ATPase subunit F (V ATPase subunit F) (V ATPase 14 kDa subunit) (Vacuolar proton pump subunit F)
  • Length: 119  
  • Mass: 13370
• Sequence:

  MAGRGKLIAVIGDEDTVTGFLLGGIGELNKNRHPNFLVVEKDTTINEIEDTFRQFLNRDDIGIILINQYIAEMVR
  HALDAHQQSIPAVLEIPSKEHPYDAAKDSILRRARGMFTAEDLR

• Structural information:
  • Interpro: IPR008218  IPR005772  IPR036906  
• Other Databases: GeneCards:  ATP6V1F  Malacards:  ATP6V1F

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0042625	ATPase-coupled ion transmembrane transporter activity	IBA	molecular function
GO:0033180	proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016469	proton-transporting two-sector ATPase complex	NAS	cellular component
GO:1902600	proton transmembrane transport	NAS	biological process
GO:0015078	proton transmembrane transporter activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016887	ATPase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
hsa00190	Oxidative phosphorylation
hsa04145	Phagosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray