Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Lysosomal acid glucosylceramidase
Summary
- UniProt ID
- P04062
- Gene Symbol
-
- GBA1
- GBA
- GC
- GLUC
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011346
- GlyConnect
- GlyGen
- P04062
- PubChem
- P04062
- SwissLipids
- The Human Metabolome Database
- HMDBP01795
- The O-GlcNAc Database
- P04062
- RaftProt
- P04062
- O-GlcNAcAtlas
- P04062
Annotation
- Keyword
-
- 3D-structure
- Alternative initiation
- Alternative splicing
- Cholesterol metabolism
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Gaucher disease
- Glycoprotein
- Glycosidase
- Glycosyltransferase
- Ichthyosis
- Lysosome
- Membrane
- Neurodegeneration
- Parkinson disease
- Parkinsonism
- Pharmaceutical
- Reference proteome
- Signal
- Sphingolipid metabolism
- Gene Ontology (GO)
| GO Term |
|---|
| lysosome |
| lysosomal membrane |
| Golgi apparatus |
| extracellular exosome |
| endoplasmic reticulum |
| trans-Golgi network |
| lysosomal lumen |
Sequence
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Association of TriC/CCT with target proteins during biosynthesis | Homo sapiens |
| Glycosphingolipid catabolism | Homo sapiens |
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:0060787 | hypomyelinating leukodystrophy 2 | |
| DOID:0060789 | hypomyelinating leukodystrophy 4 | |
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0050745 | diffuse large B-cell lymphoma | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050873 | follicular lymphoma | |
| DOID:0060058 | lymphoma | |
| DOID:0060060 | non-Hodgkin lymphoma | |
| DOID:0060162 | dentatorubral-pallidoluysian atrophy |
