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:0001321 | Cerebellar hypoplasia |
HP:0001336 | Myoclonus |
HP:0001337 | Tremor |
HP:0001339 | Lissencephaly |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
HP:0001374 | Congenital hip dislocation |
HP:0001385 | Hip dysplasia |
HP:0001476 | Delayed closure of the anterior fontanelle |
HP:0001508 | Failure to thrive |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115537082 | GADMO36312 | ||
115547679 | GADMO55183 | ||
103456644 | POERE17561 | ||
103475419 | POERE07648 | ||
102221550 | XIPMA19516 | ||
102233759 | XIPMA02933 | ||
101165416 | ORYLA04168 | ||
101175115 | ORYLA04168 | ||
100710668 | ORENI04215 | ||
100710754 | ORENI75263 |
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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