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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 |
|---|
| lysosome organization |
| brain development |
| visual perception |
| protein catabolic process |
| neurogenesis |
| neuron maturation |
| glycosylation |
| signal peptide processing |
| lysosomal lumen acidification |
| retrograde transport, endosome to Golgi |
| GO Term |
|---|
| lysosome |
| lysosomal membrane |
| vacuolar lumen |
| Golgi apparatus |
| membrane |
| extracellular exosome |
| cytosol |
| endoplasmic reticulum |
| perinuclear region of cytoplasm |
| GO Term |
|---|
| long-chain acyl-CoA hydrolase activity |
| hydrolase activity, acting on glycosyl bonds |
| mannose binding |
| bis(monoacylglycero)phosphate synthase activity |
Sequence
MAQEVDTAQGAEMRRGAGAARGRASWCWALALLWLAVVPGWSRVSGIPSRRHWPVPYKRFDFRPKPDPYCQAKYTFCPTGSPIPVMEGDDDIEVFRLQAPVWEFKYGDLLGHLKIMHDAIGFRSTLTGKNYTMEWYELFQLGNCTFPHLRPEMDAPFWCNQGAACFFEGIDDVHWKENGTLVQVATISGNMFNQMAKWVKQDNETGIYYETWNVKASPEKGAETWFDSYDCSKFVLRTFNKLAEFGAEFKNIETNYTRIFLYSGEPTYLGNETSVFGPTGNKTLGLAIKRFYYPFKPHLPTKEFLLSLLQIFDAVIVHKQFYLFYNFEYWFLPMKFPFIKITYEEIPLPIRNKTLSGL
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 130 | N-linked (GlcNAc...) asparagine |
|
||
| 143 | N-linked (GlcNAc...) asparagine |
|
||
| 178 | N-linked (GlcNAc...) asparagine | |||
| 203 | N-linked (GlcNAc...) asparagine | |||
| 255 | N-linked (GlcNAc...) asparagine |
|
||
| 271 | N-linked (GlcNAc...) asparagine | |||
| 281 | N-linked (GlcNAc...) asparagine | |||
| 352 | N-linked (GlcNAc...) asparagine |
|
||
|
|
G00912UN
G49018RC
G72747WU
G80920RR
G02886BB
G90659AW
G05049YU
G05724UK
G31852PQ
G41247ZX
G15664MX
G70619PT
G46503DX
G20210JR
G50372IH
G70101JE
G62765YT
G64527OM
G02815KT
G43223CG
G08918WF
G75983OB
G48414YA
G87661QW
G83646BJ
G27058EU
G83460ZZ
G60033FS
G41071NU
G86182NS
G06356OH
G59626AS
G41840AI
G01650EU
G23294PN
G65184UU
G45504EY
G37399XV
G82463GQ
G47644PP
G72790NZ
G10486CT
G90734RJ
G28541PG
G72291OX
G95865ZB
G49955PK
G72787SB
G39188ZX
G35029YA
G57776ZU
G14669DU
G28681TP
G69521XL
G80479JV
G94470IW
G96577RX
G20706XG
G56307ZW
G58087IP
G36442WJ
G66621EA
G46687AB
G54010QB
G91445YQ
G49108TO
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 |
