UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proton motive force-driven ATP synthesis | ||
Golgi lumen acidification |
|
|
synaptic vesicle lumen acidification | ||
regulation of macroautophagy |
|
|
intracellular pH reduction |
|
GO Term | Evidence Code | PMID |
---|---|---|
extrinsic component of synaptic vesicle membrane | ||
intracellular membrane-bounded organelle | ||
cytosol | ||
clathrin-coated vesicle membrane | ||
secretory granule |
GO Term | Evidence Code | PMID |
---|---|---|
proton-transporting ATPase activity, rotational mechanism | ||
proton-transporting ATP synthase activity, rotational mechanism | ||
ATP binding | ||
protein binding | ||
ATP hydrolysis activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:11836 | clubfoot | |
DOID:11963 | esophagitis | |
DOID:11984 | hypertrophic cardiomyopathy | |
DOID:12270 | coloboma | |
DOID:12397 | entropion | |
DOID:12711 | black piedra | |
DOID:12849 | autistic disorder | |
DOID:12932 | endomyocardial fibrosis |
HPO ID | HPO Term |
---|---|
HP:0000750 | Delayed speech and language development |
HP:0000973 | Cutis laxa |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001268 | Mental deterioration |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
111221014 | SERDU21131 | ||
111234447 | SERDU12801 | ||
108439069 | PYGNA02420 | ||
101969020 | ICTTR00976 | ||
103139754 | POEFO07511 | ||
103141584 | POEFO00916 | ||
101604976 | JACJA18631 | ||
118290895 | SCOMX18251 | ||
102427446 | MYOLU08526 | ||
117036068 | RHIFE05594 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024