• Gene id: 533

Gene Summary

• Gene Symbol: ATP6V0B   Gene   UCSC   Ensembl
• Aliases: ATP6F, HATPL, VMA16
• Gene name: ATPase H+ transporting V0 subunit b
• Alternate names: V-type proton ATPase 21 kDa proteolipid subunit, ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b, ATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, prime, ATPase, H+ transporting, lysosomal, subunit F, H(+)-transporting two-sector ATPase, ,
• Gene location: 1p34.1 (43974959: 43978294)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymoge
• OMIM: 601593

SNPs

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: Q99437  
  • Name: V type proton ATPase 21 kDa proteolipid subunit (V ATPase 21 kDa proteolipid subunit) (Vacuolar proton pump 21 kDa proteolipid subunit) (hATPL)
  • Length: 205  
  • Mass: 21406
  • Tissue specificity: Ubiquitous.
• Sequence:

  MTGLALLYSGVFVAFWACALAVGVCYTIFDLGFRFDVAWFLTETSPFMWSNLGIGLAISLSVVGAAWGIYITGSS
  IIGGGVKAPRIKTKNLVSIIFCEAVAIYGIIMAIVISNMAEPFSATDPKAIGHRNYHAGYSMFGAGLTVGLSNLF
  CGVCVGIVGSGAALADAQNPSLFVKILIVEIFGSAIGLFGVIVAILQTSRVKMGD

• Structural information:
  • Interpro: IPR002379  IPR000245  IPR035921  
  • STRING: ENSP00000434729
• Other Databases: GeneCards:  ATP6V0B  Malacards:  ATP6V0B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
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:0033177	proton-transporting two-sector ATPase complex, proton-transporting domain	IEA	cellular component
GO:0005773	vacuole	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
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: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:0005774	vacuolar membrane	IEA	cellular component
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
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:0033177	proton-transporting two-sector ATPase complex, proton-transporting domain	IEA	cellular component
GO:0005773	vacuole	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
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: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:0005774	vacuolar membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa00190	Oxidative phosphorylation
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa04142	Lysosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection

Diseases

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

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