UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
vacuolar acidification | ||
regulation of macroautophagy | ||
cellular response to increased oxygen levels | ||
lysosomal lumen acidification | ||
proton transmembrane transport |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
secretory granule | ||
microvillus | ||
apical plasma membrane | ||
vacuolar proton-transporting V-type ATPase, V1 domain |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
ATP hydrolysis activity | ||
proton-transporting ATPase activity, rotational mechanism | ||
proton-transporting ATP synthase activity, rotational mechanism | ||
ATP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0112275 | developmental and epileptic encephalopathy 93 |
HPO ID | HPO Term |
---|---|
HP:0004322 | Short stature |
HP:0004970 | Ascending tubular aorta aneurysm |
HP:0005272 | Prominent nasolabial fold |
HP:0005989 | Redundant neck skin |
HP:0006891 | Thick cerebral cortex |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0007359 | Focal-onset seizure |
HP:0007392 | Excessive wrinkled skin |
HP:0007457 | Prominent veins on trunk |
HP:0007552 | Abnormal subcutaneous fat tissue distribution |
Disease ID | Disease Name |
---|---|
OMIM:617403 |
|
ORPHA:357074 |
|
OMIM:618012 |
|
ORPHA:442835 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
112151199 | ORYME19989 | |||
112913438 | VULVU04645 | |||
113029392 | ASTCA40869 | |||
113030837 | ASTCA01708 | |||
113163316 | ANATE01476 | |||
113444432 | PSETE17233 | |||
113477758 | ATHCN02273 | |||
113570270 | ELEEL07610 | |||
113576113 | ELEEL17708 | |||
113880466 | BOBOX29790 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024