UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
intracellular iron ion homeostasis | ||
lysosomal lumen acidification | ||
vacuolar acidification |
|
|
proton transmembrane transport | ||
endosomal lumen acidification |
|
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:4090 | agnosia | |
DOID:0050133 | superficial mycosis | |
DOID:0050453 | lissencephaly | |
DOID:0050591 | tooth agenesis | |
DOID:0050700 | cardiomyopathy | |
DOID:0050777 | Joubert syndrome | |
DOID:0050841 | focal hand dystonia | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0060270 | pontocerebellar hypoplasia type 2D |
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 |
---|---|---|---|
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