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:0000431 | Wide nasal bridge |
HP:0000455 | Broad nasal tip |
HP:0000463 | Anteverted nares |
HP:0000486 | Strabismus |
HP:0000494 | Downslanted palpebral fissures |
HP:0000504 | Abnormality of vision |
HP:0000508 | Ptosis |
HP:0000518 | Cataract |
HP:0000540 | Hypermetropia |
HP:0000546 | Retinal degeneration |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
111221014 | SERDU21131 | ||
111234447 | SERDU12801 | ||
108439069 | PYGNA02420 | ||
101969020 | ICTTR00976 | ||
103139754 | POEFO07511 | ||
103141584 | POEFO00916 | ||
101604976 | JACJA18631 | ||
118290895 | SCOMX18251 | ||
102427446 | MYOLU08526 | ||
117036068 | RHIFE05594 |
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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