Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	529
Gene name	ATPase H+ transporting V1 subunit E1
Gene symbol	ATP6V1E1
Synonyms (NCBI Gene)	ARCL2CATP6EATP6E2ATP6V1EP31Vma4
Chromosome	22
Chromosome location	22q11.21
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1060505031	A>G	Pathogenic	Coding sequence variant, missense variant

153

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023958	hsa-miR-1-3p	Proteomics	18668040
MIRT031879	hsa-miR-16-5p	Proteomics	18668040
MIRT046956	hsa-miR-221-3p	CLASH	23622248
MIRT040783	hsa-miR-18a-3p	CLASH	23622248
MIRT038081	hsa-miR-423-5p	CLASH	23622248
MIRT038081	hsa-miR-423-5p	PAR-CLIP	27292025
MIRT809346	hsa-miR-1245b-3p	CLIP-seq
MIRT809347	hsa-miR-1245b-5p	CLIP-seq
MIRT809348	hsa-miR-1287	CLIP-seq
MIRT809349	hsa-miR-1295	CLIP-seq
MIRT809350	hsa-miR-132	CLIP-seq
MIRT809351	hsa-miR-135a	CLIP-seq
MIRT809352	hsa-miR-135b	CLIP-seq
MIRT809353	hsa-miR-194	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT809356	hsa-miR-212	CLIP-seq
MIRT809357	hsa-miR-23a	CLIP-seq
MIRT809358	hsa-miR-23b	CLIP-seq
MIRT809359	hsa-miR-23c	CLIP-seq
MIRT809360	hsa-miR-3126-5p	CLIP-seq
MIRT809361	hsa-miR-3135b	CLIP-seq
MIRT809362	hsa-miR-3142	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT809364	hsa-miR-3202	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT809367	hsa-miR-3650	CLIP-seq
MIRT809368	hsa-miR-4419a	CLIP-seq
MIRT809369	hsa-miR-4422	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT809371	hsa-miR-4510	CLIP-seq
MIRT809372	hsa-miR-4533	CLIP-seq
MIRT809373	hsa-miR-4668-5p	CLIP-seq
MIRT809374	hsa-miR-4693-3p	CLIP-seq
MIRT809375	hsa-miR-4717-5p	CLIP-seq
MIRT809376	hsa-miR-4760-5p	CLIP-seq
MIRT809377	hsa-miR-499-3p	CLIP-seq
MIRT809378	hsa-miR-499a-3p	CLIP-seq
MIRT809379	hsa-miR-518a-3p	CLIP-seq
MIRT809380	hsa-miR-518b	CLIP-seq
MIRT809381	hsa-miR-518c	CLIP-seq
MIRT809382	hsa-miR-518d-3p	CLIP-seq
MIRT809383	hsa-miR-518f	CLIP-seq
MIRT809384	hsa-miR-645	CLIP-seq
MIRT809385	hsa-miR-664	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT809347	hsa-miR-1245b-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT809348	hsa-miR-1287	CLIP-seq
MIRT809349	hsa-miR-1295	CLIP-seq
MIRT809350	hsa-miR-132	CLIP-seq
MIRT809353	hsa-miR-194	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT809356	hsa-miR-212	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT809361	hsa-miR-3135b	CLIP-seq
MIRT809362	hsa-miR-3142	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT809364	hsa-miR-3202	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT809372	hsa-miR-4533	CLIP-seq
MIRT2178228	hsa-miR-4641	CLIP-seq
MIRT809374	hsa-miR-4693-3p	CLIP-seq
MIRT809375	hsa-miR-4717-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT809377	hsa-miR-499-3p	CLIP-seq
MIRT809378	hsa-miR-499a-3p	CLIP-seq
MIRT809379	hsa-miR-518a-3p	CLIP-seq
MIRT809380	hsa-miR-518b	CLIP-seq
MIRT809381	hsa-miR-518c	CLIP-seq
MIRT809382	hsa-miR-518d-3p	CLIP-seq
MIRT809383	hsa-miR-518f	CLIP-seq
MIRT809384	hsa-miR-645	CLIP-seq
MIRT2178230	hsa-miR-671-5p	CLIP-seq
MIRT2482071	hsa-miR-1205	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT2482072	hsa-miR-1288	CLIP-seq
MIRT2482073	hsa-miR-1909	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT2482074	hsa-miR-3144-5p	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT2482075	hsa-miR-3191	CLIP-seq
MIRT2482076	hsa-miR-3199	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT2482077	hsa-miR-3611	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT2482078	hsa-miR-3918	CLIP-seq
MIRT2482079	hsa-miR-3926	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT2482080	hsa-miR-4418	CLIP-seq
MIRT2482081	hsa-miR-4481	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT2482082	hsa-miR-4652-5p	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT2482083	hsa-miR-4745-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT2482084	hsa-miR-491-5p	CLIP-seq
MIRT2482085	hsa-miR-509-3-5p	CLIP-seq
MIRT2482086	hsa-miR-509-5p	CLIP-seq
MIRT2482071	hsa-miR-1205	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT2482072	hsa-miR-1288	CLIP-seq
MIRT2482073	hsa-miR-1909	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT2482074	hsa-miR-3144-5p	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT2482075	hsa-miR-3191	CLIP-seq
MIRT2482076	hsa-miR-3199	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT2482077	hsa-miR-3611	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT2482078	hsa-miR-3918	CLIP-seq
MIRT2482079	hsa-miR-3926	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT2482080	hsa-miR-4418	CLIP-seq
MIRT2482081	hsa-miR-4481	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT2482082	hsa-miR-4652-5p	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT2482083	hsa-miR-4745-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT2482084	hsa-miR-491-5p	CLIP-seq
MIRT2482085	hsa-miR-509-3-5p	CLIP-seq
MIRT2482086	hsa-miR-509-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IDA	33065002
GO:0005515	Function	Protein binding	IPI	11399750, 16169070, 21784977, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016469	Component	Proton-transporting two-sector ATPase complex	TAS	8250920
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033178	Component	Proton-transporting two-sector ATPase complex, catalytic domain	IEA
GO:0045202	Component	Synapse	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0051117	Function	ATPase binding	IPI	20717956
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	TAS	8250920

MIM	HGNC	e!Ensembl
108746	857	ENSG00000131100

P36543

Protein 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)

Protein function

Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATP

PDB

6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01991	vATP-synt_E	18 → 216	ATP synthase (E/31 kDa) subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276). Ubiquitous (PubMed:12036578). High expression in the skin (PubMed:28065471). {ECO:0000269

Sequence

MALSDADVQKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKK
EKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLV
LQGLYQLLEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGG
VEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD

Sequence length

226

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Phagosome mTOR signaling pathway Synaptic vesicle cycle Collecting duct acid secretion Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Human papillomavirus infection Rheumatoid arthritis		ROS and RNS production in phagocytes Insulin receptor recycling Transferrin endocytosis and recycling Amino acids regulate mTORC1 Ion channel transport

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive cutis laxa type 2C	Likely pathogenic; Pathogenic	rs1028534806	RCV000477738
Cutis laxa	Likely pathogenic; Pathogenic	rs1028534806	RCV004579547

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs74795219, rs73391487	RCV005923680 RCV005910396
ATP6V1E1-related disorder	Likely benign	rs200844005	RCV003951314
Cervical cancer	Benign; Likely benign	rs74795219, rs73391487	RCV005923682 RCV005910398
Cholangiocarcinoma	Benign; Likely benign	rs73391487	RCV005910406
Clear cell carcinoma of kidney	Benign; Likely benign	rs73391487	RCV005910399
Colon adenocarcinoma	Benign; Likely benign	rs73391487	RCV005910395
Familial cancer of breast	Benign; Likely benign	rs73391487	RCV005910394
Gastric cancer	Benign; Likely benign	rs73391487	RCV005910401
Lung cancer	Benign; Likely benign	rs74795219, rs73391487	RCV005923684 RCV005910407
Malignant tumor of esophagus	Benign	rs74795219	RCV005923681
Melanoma	Benign; Likely benign	rs73391487	RCV005910405
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs73391487	RCV005910397
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs73391487	RCV005910402
Thymoma	Benign	rs74795219	RCV005923683
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs73391487	RCV005910404
Uterine carcinosarcoma	Benign; Likely benign	rs73391487	RCV005910403
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs73876477, rs74795219	RCV005916321 RCV005923685
Uveal melanoma	Benign; Likely benign	rs73391487	RCV005910400

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	2419593
Alzheimer Disease	Associate	37334737
Anorectal Malformations	Associate	22395867
Anus Imperforate	Associate	22395867
Carcinoma Hepatocellular	Associate	36105252, 39294741
Osteosarcoma	Associate	37405988
Preauricular Tag Isolated Autosomal Dominant 1	Associate	22395867
Retroviridae Infections	Associate	2419593
Schmid Fraccaro syndrome	Associate	22395867, 7668296

ATP6V1E1 (ATPase H+ transporting V1 subunit E1)