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: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:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100229321 | TAEGU11310 | ||
101819794 | FICAL09781 | ||
103228299 | CHLSB10724 | ||
100591065 | NOMLE19474 | ||
113163316 | ANATE01476 | ||
114588141 | PODMU23789 | ||
107584963 | SINGR34891 | ||
107591235 | SINGR48877 | ||
107592296 | SINGR22143 | ||
107599937 | SINGR61505 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024