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: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 |
---|---|---|---|
101693688 | MUSPF09648 | ||
101091723 | FELCA22962 | ||
101336142 | TURTR02445 | ||
118894824 | BALMU18312 | ||
100653567 | LOXAF11247 | ||
100061223 | HORSE14466 | ||
445531 | PIGXX05670 | ||
282147 | BOVIN14516 | ||
102186053 | CAPHI11869 | ||
101102025 | SHEEP01381 |
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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