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:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:11836 | clubfoot | |
DOID:11963 | esophagitis | |
DOID:11984 | hypertrophic cardiomyopathy | |
DOID:12270 | coloboma | |
DOID:12397 | entropion | |
DOID:12711 | black piedra | |
DOID:12849 | autistic disorder | |
DOID:12932 | endomyocardial fibrosis |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000054 | Micropenis |
HP:0000218 | High palate |
HP:0000252 | Microcephaly |
HP:0000253 | Progressive microcephaly |
HP:0000272 | Malar flattening |
HP:0000278 | Retrognathia |
HP:0000298 | Mask-like facies |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102298187 | HAPBU08336 | ||
102305101 | HAPBU00615 | ||
113029392 | ASTCA40869 | ||
113030837 | ASTCA01708 | ||
115570340 | SPAAU46662 | ||
115594565 | SPAAU18916 | ||
734627 | Xenbase:XB-GENE-865279 | ||
108709283 | Xenbase:XB-GENE-17340515 | ||
407846 | Xenbase:XB-GENE-990439 | ||
493238 | Xenbase:XB-GENE-479548 |
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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