• Gene id: 9114

Gene Summary

• Gene Symbol: ATP6V0D1   Gene   UCSC   Ensembl
• Aliases: ATP6D, ATP6DV, P39, VATX, VMA6, VPATPD
• Gene name: ATPase H+ transporting V0 subunit d1
• Alternate names: V-type proton ATPase subunit d 1, 32 kDa accessory protein, ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D, ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1, H(+)-transporting two-sector ATPase, subunit D, V-ATPase 40 KDa accessory ,
• Gene location: 16q22.1 (67481156: 67438018)     Exons: 10     NC_000016.10
• 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: 609208

Protein Summary

• Protein general information: P61421  
  • Name: V type proton ATPase subunit d 1 (V ATPase subunit d 1) (32 kDa accessory protein) (V ATPase 40 kDa accessory protein) (V ATPase AC39 subunit) (p39) (Vacuolar proton pump subunit d 1)
  • Length: 351  
  • Mass: 40329
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MSFFPELYFNVDNGYLEGLVRGLKAGVLSQADYLNLVQCETLEDLKLHLQSTDYGNFLANEASPLTVSVIDDRLK
  EKMVVEFRHMRNHAYEPLASFLDFITYSYMIDNVILLITGTLHQRSIAELVPKCHPLGSFEQMEAVNIAQTPAEL
  YNAILVDTPLAAFFQDCISEQDLDEMNIEIIRNTLYKAYLESFYKFCTLLGGTTADAMCPILEFEADRRAFIITI
  NSFGTELSKEDRAKLFPHCGRLYPEGLAQLARADDYEQVKNVADYYPEYKLLFEGAGSNPGDKTLEDRFFEHEVK
  LNKLAFLNQFHFGVFYAFVKLKEQECRNIVWIAECIAQRHRAKIDNYIPIF

• Structural information:
  • Interpro: IPR036079  IPR002843  IPR016727  IPR035067  
  • DIP: 47435
  • STRING: ENSP00000290949
• Other Databases: GeneCards:  ATP6V0D1  Malacards:  ATP6V0D1

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:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0007034	vacuolar transport	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0033181	plasma membrane proton-transporting V-type ATPase complex	IBA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0007035	vacuolar acidification	IBA	biological process
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005813	centrosome	IDA	colocalizes with
GO:0060271	cilium assembly	ISS	biological process
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0036295	cellular response to increased oxygen levels	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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:0030030	cell projection organization	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010008	endosome 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:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	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:0005769	early endosome	IEA	cellular component
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:1902600	proton transmembrane transport	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016471	vacuolar proton-transporting V-type ATPase complex	NAS	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0007034	vacuolar transport	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0033181	plasma membrane proton-transporting V-type ATPase complex	IBA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0007035	vacuolar acidification	IBA	biological process
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005813	centrosome	IDA	colocalizes with
GO:0060271	cilium assembly	ISS	biological process
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0036295	cellular response to increased oxygen levels	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
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:0030030	cell projection organization	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010008	endosome 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:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	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:0005769	early endosome	IEA	cellular component
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:1902600	proton transmembrane transport	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016471	vacuolar proton-transporting V-type ATPase complex	NAS	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa05203	Viral carcinogenesis
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
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