• Gene id: 523

Gene Summary

• Gene Symbol: ATP6V1A   Gene   UCSC   Ensembl
• Aliases: ARCL2D, ATP6A1, ATP6V1A1, HO68, IECEE3, VA68, VPP2, Vma1
• Gene name: ATPase H+ transporting V1 subunit A
• Alternate names: V-type proton ATPase catalytic subunit A, ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A, ATPase, H+ transporting, lysosomal, subunit A1, H(+)-transporting two-sector ATPase, subunit A, H+-transporting ATPase chain A, vacuolar (VA68 type), V-ATPase 69 ,
• Gene location: 3q13.31 (44265550: 44258165)     Exons: 6     NC_000006.12
• 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: 607027

Protein Summary

• Protein general information: P38606  
  • Name: V type proton ATPase catalytic subunit A (V ATPase subunit A) (EC 7.1.2.2) (V ATPase 69 kDa subunit) (Vacuolar ATPase isoform VA68) (Vacuolar proton pump subunit alpha)
  • Length: 617  
  • Mass: 68304
  • Tissue specificity: High expression in the skin. {ECO
• Sequence:

  MDFSKLPKILDEDKESTFGYVHGVSGPVVTACDMAGAAMYELVRVGHSELVGEIIRLEGDMATIQVYEETSGVSV
  GDPVLRTGKPLSVELGPGIMGAIFDGIQRPLSDISSQTQSIYIPRGVNVSALSRDIKWDFTPCKNLRVGSHITGG
  DIYGIVSENSLIKHKIMLPPRNRGTVTYIAPPGNYDTSDVVLELEFEGVKEKFTMVQVWPVRQVRPVTEKLPANH
  PLLTGQRVLDALFPCVQGGTTAIPGAFGCGKTVISQSLSKYSNSDVIIYVGCGERGNEMSEVLRDFPELTMEVDG
  KVESIMKRTALVANTSNMPVAAREASIYTGITLSEYFRDMGYHVSMMADSTSRWAEALREISGRLAEMPADSGYP
  AYLGARLASFYERAGRVKCLGNPEREGSVSIVGAVSPPGGDFSDPVTSATLGIVQVFWGLDKKLAQRKHFPSVNW
  LISYSKYMRALDEYYDKHFTEFVPLRTKAKEILQEEEDLAEIVQLVGKASLAETDKITLEVAKLIKDDFLQQNGY
  TPYDRFCPFYKTVGMLSNMIAFYDMARRAVETTAQSDNKITWSIIREHMGDILYKLSSMKFKDPLKDGEAKIKSD
  YAQLLEDMQNAFRSLED

• Structural information:
  • Interpro: IPR031686  IPR023366  IPR020003  IPR004100  IPR036121   IPR000194  IPR024034  IPR005725  IPR027417  IPR022878  
  • Prosite: PS00152
  • STRING: ENSP00000273398
• Other Databases: GeneCards:  ATP6V1A  Malacards:  ATP6V1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0005774	vacuolar membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0036295	cellular response to increased oxygen levels	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0033180	proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:0046034	ATP metabolic process	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016469	proton-transporting two-sector ATPase complex	TAS	cellular component
GO:0034220	ion transmembrane transport	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:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005886	plasma membrane	ISS	cellular component

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
Infantile or early childhood epileptic encephalopathy	KEGG:H02150
Infantile or early childhood epileptic encephalopathy	KEGG:H02150
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881