• Gene id: 8992

Gene Summary

• Gene Symbol: ATP6V0E1   Gene   UCSC   Ensembl
• Aliases: ATP6H, ATP6V0E, M9.2, Vma21, Vma21p
• Gene name: ATPase H+ transporting V0 subunit e1
• Alternate names: V-type proton ATPase subunit e 1, ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1, H(+)-transporting two-sector ATPase, subunit H, V-ATPase 9.2 kDa membrane accessory protein, V-ATPase H subunit, V-ATPase M9.2 subunit, V-ATPase subunit e 1, vacuolar ATP s,
• Gene location: 5q35.1 (48006211: 47972966)     Exons: 57     NC_000012.12
• 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: 603931

Protein Summary

• Protein general information: O15342  
  • Name: V type proton ATPase subunit e 1 (V ATPase subunit e 1) (V ATPase 9.2 kDa membrane accessory protein) (V ATPase M9.2 subunit) (Vacuolar proton pump subunit e 1)
  • Length: 81  
  • Mass: 9374
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MAYHGLTVPLIVMSVFWGFVGFLVPWFIPKGPNRGVIITMLVTCSVCCYLFWLIAILAQLNPLFGPQLKNETIWY
  LKYHWP

• Structural information:
  • Interpro: IPR008389  IPR017385  
  • STRING: ENSP00000429690
• Other Databases: GeneCards:  ATP6V0E1  Malacards:  ATP6V0E1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0055085	transmembrane transport	IBA	biological process
GO:0033179	proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046961	proton-transporting ATPase activity, rotational mechanism	TAS	molecular function
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0042625	ATPase-coupled ion transmembrane transporter activity	ISS	molecular function
GO:1902600	proton transmembrane transport	IGI	biological process
GO:0007035	vacuolar acidification	ISS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IGI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq