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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Bis(monoacylglycero)phosphate synthase CLN5
Summary
- UniProt ID
- O75503
- Gene Symbol
-
- CLN5
- BMPS
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011243
- GlyConnect
- GlyGen
- O75503
- The O-GlcNAc Database
- O75503
Annotation
- Keyword
-
- 3D-structure
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Hydrolase
- Lysosome
- Neuronal ceroid lipofuscinosis
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| glycosylation |
| signal peptide processing |
| lysosomal lumen acidification |
| retrograde transport, endosome to Golgi |
| positive regulation of GTP binding |
| lysosome organization |
| brain development |
| visual perception |
| protein catabolic process |
| neurogenesis |
| GO Term |
|---|
| lysosome |
| lysosomal membrane |
| vacuolar lumen |
| Golgi apparatus |
| membrane |
| extracellular exosome |
| cytosol |
| endoplasmic reticulum |
| perinuclear region of cytoplasm |
| GO Term |
|---|
| bis(monoacylglycero)phosphate synthase activity |
| long-chain acyl-CoA hydrolase activity |
| hydrolase activity, acting on glycosyl bonds |
| mannose binding |
Sequence
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050753 | cerebellar ataxia | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0110035 | Alzheimer's disease 2 | |
| DOID:0110037 | Alzheimer's disease 5 | |
| DOID:0110038 | Alzheimer's disease 6 | |
| DOID:0110039 | Alzheimer's disease 7 | |
| DOID:0110041 | Alzheimer's disease 8 | |
| DOID:0110043 | Alzheimer's disease 10 | |
| DOID:0110044 | Alzheimer's disease 11 |
