UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
intracellular iron ion homeostasis | ||
synaptic vesicle lumen acidification | ||
endosomal lumen acidification | ||
intracellular pH reduction | ||
proton motive force-driven ATP synthesis |
GO Term | Evidence Code | PMID |
---|---|---|
membrane | ||
secretory granule | ||
microvillus | ||
apical plasma membrane | ||
vacuolar proton-transporting V-type ATPase, V1 domain |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
ATP hydrolysis activity | ||
proton-transporting ATPase activity, rotational mechanism | ||
proton-transporting ATP synthase activity, rotational mechanism | ||
ATP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0112275 | developmental and epileptic encephalopathy 93 |
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:617403 |
|
ORPHA:357074 |
|
OMIM:618012 |
|
ORPHA:442835 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
487981 | CANLF13306 | |||
493238 | Xenbase:XB-GENE-479548 | |||
685232 | RGD:1596464 | RATNO03990 | ||
709958 | MACMU28247 | |||
734627 | Xenbase:XB-GENE-865279 | |||
851342 | SGD:S000002344 | |||
3564970 | WB:WBGene00013025 | |||
100011348 | MONDO20675 | |||
100061223 | HORSE14466 | |||
100088320 | ORNAN02380 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024