• Gene id: 535

Gene Summary

• Gene Symbol: ATP6V0A1   Gene   UCSC   Ensembl
• Aliases: ATP6N1, ATP6N1A, Stv1, VPP1, Vph1, a1
• Gene name: ATPase H+ transporting V0 subunit a1
• Alternate names: V-type proton ATPase 116 kDa subunit a isoform 1, V-type proton ATPase 116 kDa subunit a, ATPase, H+ transporting, lysosomal V0 subunit a1, ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD), H(+)-transporting two-sector ATPase, ,
• Gene location: 17q21.2 (42458873: 42522578)     Exons: 25     NC_000017.11
• 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: 608262

Protein Summary

• Protein general information: Q93050  
  • Name: V type proton ATPase 116 kDa subunit a isoform 1 (V ATPase 116 kDa isoform a1) (Clathrin coated vesicle/synaptic vesicle proton pump 116 kDa subunit) (Vacuolar adenosine triphosphatase subunit Ac116) (Vacuolar proton pump subunit 1) (Vacuolar proton trans
  • Length: 837  
  • Mass: 96413
• Sequence:

  MGELFRSEEMTLAQLFLQSEAAYCCVSELGELGKVQFRDLNPDVNVFQRKFVNEVRRCEEMDRKLRFVEKEIRKA
  NIPIMDTGENPEVPFPRDMIDLEANFEKIENELKEINTNQEALKRNFLELTELKFILRKTQQFFDEMADPDLLEE
  SSSLLEPSEMGRGTPLRLGFVAGVINRERIPTFERMLWRVCRGNVFLRQAEIENPLEDPVTGDYVHKSVFIIFFQ
  GDQLKNRVKKICEGFRASLYPCPETPQERKEMASGVNTRIDDLQMVLNQTEDHRQRVLQAAAKNIRVWFIKVRKM
  KAIYHTLNLCNIDVTQKCLIAEVWCPVTDLDSIQFALRRGTEHSGSTVPSILNRMQTNQTPPTYNKTNKFTYGFQ
  NIVDAYGIGTYREINPAPYTIITFPFLFAVMFGDFGHGILMTLFAVWMVLRESRILSQKNENEMFSTVFSGRYII
  LLMGVFSMYTGLIYNDCFSKSLNIFGSSWSVRPMFTYNWTEETLRGNPVLQLNPALPGVFGGPYPFGIDPIWNIA
  TNKLTFLNSFKMKMSVILGIIHMLFGVSLSLFNHIYFKKPLNIYFGFIPEIIFMTSLFGYLVILIFYKWTAYDAH
  TSENAPSLLIHFINMFLFSYPESGYSMLYSGQKGIQCFLVVVALLCVPWMLLFKPLVLRRQYLRRKHLGTLNFGG
  IRVGNGPTEEDAEIIQHDQLSTHSEDADEPSEDEVFDFGDTMVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQ
  LSEVLWTMVIHIGLSVKSLAGGLVLFFFFTAFATLTVAILLIMEGLSAFLHALRLHWVEFQNKFYSGTGFKFLPF
  SFEHIREGKFEE

• Structural information:
  • Interpro: IPR002490  IPR026028  
  • STRING: ENSP00000264649
• Other Databases: GeneCards:  ATP6V0A1  Malacards:  ATP6V0A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007035	vacuolar acidification	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0016241	regulation of macroautophagy	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007035	vacuolar acidification	IBA	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0051117	ATPase binding	IBA	molecular function
GO:0033179	proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0101003	ficolin-1-rich granule membrane	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:0005515	protein binding	IPI	molecular function
GO:1901998	toxin transport	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043229	intracellular organelle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	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
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray