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:1307 | dementia | |
DOID:13174 | dissociated nystagmus | |
DOID:13450 | coccidioidomycosis | |
DOID:13564 | aspergillosis | |
DOID:13620 | patent foramen ovale | |
DOID:13714 | anodontia | |
DOID:13902 | white piedra | |
DOID:13976 | peptic esophagitis | |
DOID:1443 | cerebral degeneration | |
DOID:14484 | sporotrichosis |
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 |
---|---|---|---|
3564970 | WB:WBGene00013025 | ||
34695 | FB:FBgn0032464 | ||
45012 | FB:FBgn0263598 | ||
45668 | FB:FBgn0265262 | ||
100184809 | CIOIN07642 | ||
103177564 | CALMI13372 | ||
102350094 | LATCH14376 | ||
337583 | ZFIN:ZDB-GENE-030131-9529 | DANRE51290 | |
394110 | ZFIN:ZDB-GENE-040426-1143 | DANRE36501 | |
103041856 | ASTMX06194 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024