UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proton motive force-driven ATP synthesis | ||
Golgi lumen acidification |
|
|
synaptic vesicle lumen acidification | ||
regulation of macroautophagy |
|
|
intracellular pH reduction |
|
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:0060276 | pontocerebellar hypoplasia type 7 | |
DOID:0060277 | pontocerebellar hypoplasia type 8 | |
DOID:0060278 | pontocerebellar hypoplasia type 9 | |
DOID:0060320 | inguinal hernia | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
DOID:0060857 | septooptic dysplasia | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA |
HPO ID | HPO Term |
---|---|
HP:0002317 | Unsteady gait |
HP:0002355 | Difficulty walking |
HP:0002361 | Psychomotor deterioration |
HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
HP:0002376 | Developmental regression |
HP:0002421 | Poor head control |
HP:0002465 | Poor speech |
HP:0002509 | Limb hypertonia |
HP:0002521 | Hypsarrhythmia |
HP:0002540 | Inability to walk |
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