Version: 8.0.0Date: Tue Jan 28 2025
Gene
VPH1
- Species
- Saccharomyces cerevisiae
- Symbol
- VPH1
- Name
- Vacuolar pH
- Synonyms
- YOR270C
- Biotype
- protein coding gene
- Automated Description
- Enables phosphatidylinositol-3,5-bisphosphate binding activity. Contributes to proton-transporting ATPase activity, rotational mechanism. Involved in several processes, including cellular hyperosmotic response; polyphosphate metabolic process; and vacuolar acidification. Acts upstream of or within protein localization to vacuolar membrane. Located in fungal-type vacuole membrane and membrane raft. Part of vacuolar proton-transporting V-type ATPase, V0 domain. Used to study autosomal recessive osteopetrosis 1 and renal tubular acidosis. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIA; autosomal recessive osteopetrosis 1; developmental and epileptic encephalopathy 104; renal tubular acidosis; and wrinkly skin syndrome. Orthologous to several human genes including ATP6V0A1 (ATPase H+ transporting V0 subunit a1); ATP6V0A2 (ATPase H+ transporting V0 subunit a2); and ATP6V0A4 (ATPase H+ transporting V0 subunit a4).
- SGD Description
- Subunit a of the vacuolar-ATPase V0 domain; encodes one of two isoforms, located in vacuolar V-ATPase complexes while STV1 encodes the second isoform and is located in Golgi and endosomal V-ATPase complexes; interaction with PI(3,5)P2 increases V-ATPase activity and contributes to hyperosmotic stress tolerance; relative distribution to the vacuolar membrane decreases upon DNA replication stress; human homolog ATP6V0A4 implicated in renal tubular acidosis, can complement yeast null mutant
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11629:SF63
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
- None
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- ChrXV:828052...830574 - (2.52 kb)
- Assembly version
- R64-5-1
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.