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 |
---|---|---|---|
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