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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 sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1) is a Protein Coding gene. Diseases associated with ATP6V1E1 include Cutis Laxa, Autosomal Recessive, Type Iic and Cat Eye Syndrome. Among its related pathways are Signaling by GPCR and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E2.
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 | 11399750 |
GO:0008553 | proton-exporting ATPase activity, phosphorylative mechanism | IBA | 21873635 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IEA | -- |
GO:0051117 | ATPase binding | IPI | 20717956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005768 | endosome | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005902 | microvillus | 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 | |||
Phosphate | Experimental | 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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
Bafilomycin A1 | H+-ATPase (vacuolar) inhibitor | 88899-55-2 |
Concanamycin A | H+-ATPase (vacuolar) inhibitor | 80890-47-7 |
Compound | Action | Cas Number |
---|---|---|
Thonzonium Bromide | surface active agent and inhibitor of V-ATPase proton transport | 553-08-2 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1E1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
ATP6V1E1 30 |
|
||||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | ATP6V1E1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Atp6v1e1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp6v1e1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ATP6V1E1 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp6v1e1 30 |
|
||
MGC75761 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-266k8.3 31 |
|
ManyToMany | |
atp6v1e1b 30 31 |
|
ManyToMany | |||
atp6v1e1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9254 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Vha26 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002401 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | vha-8 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA4 30 31 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F02541g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | VHA-E2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0480700 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5232 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vma4 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07446 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3363 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
872334 | Uncertain Significance: not provided | 17,600,070(-) |
C/T NM_001696.4(ATP6V1E1):c.392G>A (p.Arg131Gln) |
MISSENSE | |
rs1028534806 | Pathogenic: Autosomal recessive cutis laxa type 2c. Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] | 17,592,721(-) |
G/Ap.Arg212Trp NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) |
MISSENSE | |
rs1060505031 | Pathogenic: Autosomal recessive cutis laxa type 2c. Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] | 17,600,079(-) |
A/Gp.Leu128Pro NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro) |
MISSENSE | |
rs147042004 | Benign: not provided | 17,612,843(-) |
T/C NM_001696.4(ATP6V1E1):c.245A>G (p.Lys82Arg) |
MISSENSE | |
rs1555866597 | Uncertain Significance: not provided | 17,628,635(-) |
T/C NM_001696.4(ATP6V1E1):c.1A>G (p.Met1Val) |
INITIATIOR_CODON_VARIANT,MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1278e212 | CNV | loss | 25503493 |
dgv2428n106 | CNV | deletion | 24896259 |
dgv4464n100 | CNV | gain | 25217958 |
dgv4465n100 | CNV | gain | 25217958 |
esv2272803 | CNV | deletion | 18987734 |
esv2667900 | CNV | deletion | 23128226 |
esv3557907 | CNV | deletion | 23714750 |
esv3568229 | CNV | loss | 25503493 |
esv3647227 | CNV | loss | 21293372 |
esv3647228 | CNV | loss | 21293372 |
esv3893428 | CNV | loss | 25118596 |
esv3893429 | CNV | gain | 25118596 |
nsv1065055 | CNV | gain | 25217958 |
nsv191259 | CNV | deletion | 16902084 |
nsv3553 | CNV | deletion | 18451855 |
nsv428385 | CNV | gain+loss | 18775914 |
nsv510802 | CNV | deletion | 20534489 |
nsv526826 | CNV | gain | 19592680 |
nsv955472 | CNV | deletion | 24416366 |
nsv9871 | CNV | loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cutis laxa, autosomal recessive, type iic |
|
|
cat eye syndrome |
|
|
autosomal recessive cutis laxa type ii classic type |
|
|
cutis laxa |
|
|
cutis laxa, autosomal recessive, type iid |
|
|