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ATP6V1E2 (ATPase H+ Transporting V1 Subunit E2) is a Protein Coding gene. Diseases associated with ATP6V1E2 include Mental Retardation, X-Linked, Syndromic, Hedera Type and Amyotrophic Lateral Sclerosis 12. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E1.
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21516116 |
GO:0008553 | proton-exporting ATPase activity, phosphorylative mechanism | IBA | 21873635 |
GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001669 | acrosomal vesicle | IEA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0033178 | proton-transporting two-sector ATPase complex, catalytic domain | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Insulin receptor recycling | ||
2 | Innate Immune System |
.61
|
|
3 | PI3K-Akt signaling pathway | ||
4 | Metabolism | ||
5 | mTOR signaling pathway (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0008286 | insulin receptor signaling pathway | TAS | -- |
GO:0016241 | regulation of macroautophagy | NAS | 22982048 |
GO:0033572 | transferrin transport | TAS | -- |
GO:0034220 | ion transmembrane transport | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
tiludronate | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor | 2 | ||
Water | Approved | Pharma | 0 | |||
Bafilomycin A1 | Experimental | Pharma | V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor | 0 | ||
Concanamycin A | Experimental | Pharma | V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor | 0 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
Compound | Action | Cas Number |
---|---|---|
Bafilomycin A1 | H+-ATPase (vacuolar) inhibitor | 88899-55-2 |
Concanamycin A | H+-ATPase (vacuolar) inhibitor | 80890-47-7 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1E2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP6V1E2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP6V1E2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atp6v1e2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp6v1e2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ATP6V1E1 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | MGC64332 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | atp6v1e1b 31 |
|
ManyToMany | |
si:ch211-266k8.3 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Vha26 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vha-8 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA4 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TUF 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0659200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5232 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv149e55 | CNV | loss | 17911159 |
dgv690e214 | CNV | loss | 21293372 |
esv2759046 | CNV | loss | 17122850 |
nsv1009735 | CNV | loss | 25217958 |
nsv437435 | CNV | loss | 16327808 |
nsv817828 | CNV | loss | 17921354 |
nsv9702 | CNV | loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, x-linked, syndromic, hedera type |
|
|
amyotrophic lateral sclerosis 12 |
|
|