UniProt | Protein Name |
---|---|
Q9Y487 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi lumen acidification |
|
|
regulation of macroautophagy |
|
|
immune response |
|
|
intracellular iron ion homeostasis | ||
vacuolar acidification |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
vacuolar proton-transporting V-type ATPase, V0 domain | ||
proton-transporting V-type ATPase complex |
|
|
transmembrane transporter complex | ||
plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
ATPase binding | ||
proton-transporting ATPase activity, rotational mechanism | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0111136 | congenital generalized lipodystrophy type 2 | |
DOID:0111137 | congenital generalized lipodystrophy type 3 | |
DOID:0111138 | congenital generalized lipodystrophy type 4 | |
DOID:0111266 | geroderma osteodysplasticum | |
DOID:0112171 | wrinkly skin syndrome | |
DOID:10461 | dentin caries | |
DOID:1059 | intellectual disability | |
DOID:10763 | hypertension | |
DOID:10825 | essential hypertension | |
DOID:10907 | microcephaly |
HPO ID | HPO Term |
---|---|
HP:0004322 | Short stature |
HP:0004426 | Abnormal cheek morphology |
HP:0004993 | Slender long bones with narrow diaphyses |
HP:0005272 | Prominent nasolabial fold |
HP:0005328 | Progeroid facial appearance |
HP:0005425 | Recurrent sinopulmonary infections |
HP:0005989 | Redundant neck skin |
HP:0006114 | Multiple palmar creases |
HP:0006191 | Deep palmar crease |
HP:0006891 | Thick cerebral cortex |
Disease ID | Disease Name |
---|---|
OMIM:219200 |
|
ORPHA:357074 |
|
OMIM:278250 |
|
ORPHA:2834 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108716527 | Xenbase:XB-GENE-6486492 | ||
548977 | Xenbase:XB-GENE-960957 | ||
109312718 | CROPO19473 | ||
113448604 | PSETE22238 | ||
100539317 | MELGA04782 | ||
103818329 | SERCA13126 | ||
100896337 | CALJA46097 | ||
105591013 | CERAT12816 | ||
710162 | MACMU03979 | ||
105493880 | MACNE20126 |
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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