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This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]
ATP6V1C1 (ATPase H+ Transporting V1 Subunit C1) is a Protein Coding gene. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transporter activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V1C2.
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:0005215 | transporter activity | NAS | 8250920 |
GO:0005515 | protein binding | IPI | 16415858 |
GO:0008553 | proton-exporting ATPase activity, phosphorylative mechanism | IBA | 21873635 |
GO:0015078 | proton transmembrane transporter activity | IEA | -- |
GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000221 | vacuolar proton-transporting V-type ATPase, V1 domain | IBA | 21873635 |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005829 | cytosol | TAS | -- |
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 |
---|---|---|---|---|---|---|
Thonzonium | Approved | Pharma | Target, inhibitor | 0 | ||
tiludronate | Approved, Investigational, Vet_approved | Pharma | Target, inhibitor | 2 | ||
Water | Approved | Pharma | 0 | |||
D-tartaric acid | Experimental | Pharma | Target | 0 | ||
Bafilomycin A1 | Experimental | Pharma | V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor | 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 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1C1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ATP6V1C1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ATP6V1C1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ATP6V1C1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Atp6v1c1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Atp6v1c1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | ATP6V1C1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ATP6V1C1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp6v1c1 30 |
|
||
MGC75601 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | atp6v1c1b 31 |
|
OneToMany | |
atp6v1c1a 30 31 |
|
OneToMany | |||
atp6v1c1 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2415 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005845 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Vha44 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vha-11 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA5 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F26114g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | DET3 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0593100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3174 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09897 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vma5 30 |
|
No disorders were found for ATP6V1C1 Gene.