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:0002751 | Kyphoscoliosis |
HP:0002761 | Generalized joint hypermobility |
HP:0002827 | Hip dislocation |
HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
HP:0003196 | Short nose |
HP:0003199 | Decreased muscle mass |
HP:0003429 | CNS hypomyelination |
HP:0003593 | Infantile onset |
HP:0003758 | Reduced subcutaneous adipose tissue |
HP:0004305 | Involuntary movements |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105994914 | DIPOR13861 | ||
100768315 | CRIGR03958 | ||
11964 | MGI:1201780 | MOUSE17684 | |
685232 | RGD:1596464 | RATNO03990 | |
100733879 | CAVPO14604 | ||
101573860 | OCTDE10970 | ||
101717344 | HETGA09286 | ||
101878270 | MELUD18091 | ||
100011348 | MONDO20675 | ||
130454619 | MONDO20675 |
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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