• Gene id: 51382

Gene Summary

• Gene Symbol: ATP6V1D   Gene   UCSC   Ensembl
• Aliases: ATP6M, VATD, VMA8
• Gene name: ATPase H+ transporting V1 subunit D
• Alternate names: V-type proton ATPase subunit D, ATPase, H+ transporting lysosomal, member M, ATPase, H+ transporting, lysosomal (vacuolar proton pump), ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D, H(+)-transporting two-sector ATPase, subunit M, V-ATPase 28 kDa acce,
• Gene location: 14q23.3 (67359803: 67337871)     Exons: 9     NC_000014.9
• 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: 609398

Protein Summary

• Protein general information: Q9Y5K8  
  • Name: V type proton ATPase subunit D (V ATPase subunit D) (V ATPase 28 kDa accessory protein) (Vacuolar proton pump subunit D)
  • Length: 247  
  • Mass: 28263
• Sequence:

  MSGKDRIEIFPSRMAQTIMKARLKGAQTGRNLLKKKSDALTLRFRQILKKIIETKMLMGEVMREAAFSLAEAKFT
  AGDFSTTVIQNVNKAQVKIRAKKDNVAGVTLPVFEHYHEGTDSYELTGLARGGEQLAKLKRNYAKAVELLVELAS
  LQTSFVTLDEAIKITNRRVNAIEHVIIPRIERTLAYIITELDEREREEFYRLKKIQEKKKILKEKSEKDLEQRRA
  AGEVLEPANLLAEEKDEDLLFE

• Structural information:
  • Interpro: IPR002699  
  • STRING: ENSP00000216442
• Other Databases: GeneCards:  ATP6V1D  Malacards:  ATP6V1D

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:0033176	proton-transporting V-type ATPase complex	IBA	cellular component
GO:0033176	proton-transporting V-type ATPase complex	IDA	cellular component
GO:0005813	centrosome	IDA	colocalizes with
GO:0005929	cilium	IDA	colocalizes with
GO:0060271	cilium assembly	IMP	biological process
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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: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:1902600	proton transmembrane transport	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)