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 |
---|---|---|---|
111587180 | AMPOC11867 | ||
106829494 | EQUAS04610 | ||
116820873 | CHEAB09521 | ||
109514041 | HIPCM25504 | ||
109517920 | HIPCM09392 | ||
105303967 | PTEVA08722 | ||
115053936 | ECHNA44440 | ||
115060841 | ECHNA37890 | ||
115394326 | SALFA02706 | ||
115395456 | SALFA26121 |
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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