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:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110106 | atrial heart septal defect 1 | |
DOID:0110107 | atrial heart septal defect 2 |
HPO ID | HPO Term |
---|---|
HP:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001285 | Spastic tetraparesis |
HP:0001288 | Gait disturbance |
HP:0001290 | Generalized hypotonia |
HP:0001298 | Encephalopathy |
HP:0001302 | Pachygyria |
HP:0001305 | Dandy-Walker malformation |
HP:0001315 | Reduced tendon reflexes |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
111587180 | AMPOC11867 | ||
106829494 | EQUAS04610 | ||
116820873 | CHEAB09521 | ||
109514041 | HIPCM25504 | ||
109517920 | HIPCM09392 | ||
105303967 | PTEVA08722 | ||
115053936 | ECHNA44440 | ||
115060841 | ECHNA37890 | ||
115394326 | SALFA02706 | ||
115395456 | SALFA26121 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024