• Gene id: 529

Gene Summary

• Gene Symbol: ATP6V1E1   Gene   UCSC   Ensembl
• Aliases: ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4
• Gene name: ATPase H+ transporting V1 subunit E1
• Alternate names: V-type proton ATPase subunit E 1, ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1, H(+)-transporting two-sector ATPase, 31kDa subunit, H+-transporting ATP synthase chain E, vacuolar, V-ATPase 31 kDa subunit, V-ATPase subunit E 1, V-ATPase, subunit E, vac,
• Gene location: 22q11.21 (26234178: 26278807)     Exons: 18     NC_000001.11
• 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: 108746

SNPs

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

Protein Summary

• Protein general information: P36543  
  • Name: V type proton ATPase subunit E 1 (V ATPase subunit E 1) (V ATPase 31 kDa subunit) (p31) (Vacuolar proton pump subunit E 1)
  • Length: 226  
  • Mass: 26145
  • Tissue specificity: Ubiquitous (PubMed
• Sequence:

  MALSDADVQKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKKEKQIEQQKKIQMSNL
  MNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLVLQGLYQLLEPRMIVRCRKQDFPLVKAAVQK
  AIPMYKIATKNDVDVQIDQESYLPEDIAGGVEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFL
  D

• Structural information:
  • Interpro: IPR038495  IPR002842  
  • STRING: ENSP00000253413
• Other Databases: GeneCards:  ATP6V1E1  Malacards:  ATP6V1E1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0033178	proton-transporting two-sector ATPase complex, catalytic domain	IEA	cellular component
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:1902600	proton transmembrane transport	TAS	biological process
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:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005768	endosome	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	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
Cutis laxa	KEGG:H00557
Cutis laxa	KEGG:H00557
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq