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:0002317 | Unsteady gait |
HP:0002355 | Difficulty walking |
HP:0002361 | Psychomotor deterioration |
HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
HP:0002376 | Developmental regression |
HP:0002421 | Poor head control |
HP:0002465 | Poor speech |
HP:0002509 | Limb hypertonia |
HP:0002521 | Hypsarrhythmia |
HP:0002540 | Inability to walk |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101943757 | CHRPI31880 | ||
109319171 | CROPO06169 | ||
113444432 | PSETE17233 | ||
100542050 | MELGA00994 | ||
103827128 | SERCA01135 | ||
100088320 | ORNAN02380 | ||
100934335 | SARHA10589 | ||
100411357 | CALJA12787 | ||
105596281 | CERAT34125 | ||
709958 | MACMU28247 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024