• Gene id: 50617

Gene Summary

• Gene Symbol: ATP6V0A4   Gene   UCSC   Ensembl
• Aliases: A4, ATP6N1B, ATP6N2, RDRTA2, RTA1C, RTADR, STV1, VPH1, VPP2
• Gene name: ATPase H+ transporting V0 subunit a4
• Alternate names: V-type proton ATPase 116 kDa subunit a isoform 4, V-type proton ATPase 116 kDa subunit a, ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B, ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic ac,
• Gene location: 7q34 (138799838: 138706293)     Exons: 24     NC_000007.14
• Gene summary(Entrez): This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sor
• OMIM: 605910

Protein Summary

• Protein general information: Q9HBG4  
  • Name: V type proton ATPase 116 kDa subunit a isoform 4 (V ATPase 116 kDa isoform a4) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4) (Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform)
  • Length: 840  
  • Mass: 96386
  • Tissue specificity: Expressed in adult and fetal kidney. Found in the inner ear. {ECO
• Sequence:

  MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNE
  IVVQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFT
  EDTSGLLELKAVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIF
  YQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQ
  KMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSKTAPPTFNRTNKFTAG
  FQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRY
  LILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPI
  WNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCC
  FDVHVSQHAPSILIHFINMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASR
  IQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTASYLRLWALSLA
  HAQLSEVLWTMVMNSGLQTRGWGGIVGVFIIFAVFAVLTVAILLIMEGLSAFLHALRLHWVEFQNKFYVGDGYKF
  SPFSFKHILDGTAEE

• Structural information:
  • Interpro: IPR002490  IPR026028  
  • STRING: ENSP00000308122
• Other Databases: GeneCards:  ATP6V0A4  Malacards:  ATP6V0A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007588	excretion	IMP	biological process
GO:1902600	proton transmembrane transport	IMP	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	colocalizes with
GO:0006885	regulation of pH	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045177	apical part of cell	IDA	cellular component
GO:0001503	ossification	IMP	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031526	brush border membrane	IDA	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:0007035	vacuolar acidification	IBA	biological process
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:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	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:1902600	proton transmembrane transport	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007588	excretion	IMP	biological process
GO:1902600	proton transmembrane transport	IMP	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	colocalizes with
GO:0006885	regulation of pH	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045177	apical part of cell	IDA	cellular component
GO:0001503	ossification	IMP	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0031526	brush border membrane	IDA	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:0007035	vacuolar acidification	IBA	biological process
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:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	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:1902600	proton transmembrane transport	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
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
Renal tubular acidosis	KEGG:H02310
Distal renal tubular acidosis	KEGG:H00428
Renal tubular acidosis	KEGG:H02310
Distal renal tubular acidosis	KEGG:H00428
Renal tubular acidosis	PMID:10973252
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R