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 |
---|---|---|
proton-transporting two-sector ATPase complex |
|
|
lysosomal membrane | ||
apical plasma membrane | ||
microvillus | ||
extracellular exosome |
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:0000750 | Delayed speech and language development |
HP:0000973 | Cutis laxa |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001268 | Mental deterioration |
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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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