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:0001270 | Motor delay |
HP:0001272 | Cerebellar atrophy |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001285 | Spastic tetraparesis |
HP:0001288 | Gait disturbance |
HP:0001290 | Generalized hypotonia |
HP:0001298 | Encephalopathy |
HP:0001302 | Pachygyria |
HP:0001305 | Dandy-Walker malformation |
HP:0001315 | Reduced tendon reflexes |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
112151199 | ORYME19989 | ||
101062023 | TAKRU02456 | ||
101072050 | TAKRU13454 | ||
102781495 | NEOBR22394 | ||
102005949 | CHILA08381 | ||
108230230 | KRYMA03693 | ||
108236878 | KRYMA11645 | ||
105724990 | AOTNA19635 | ||
110222274 | PHACI00680 | ||
101041261 | SAIBB25237 |
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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