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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
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 58 | N-linked (GlcNAc...) asparagine | |||
| 60 |
|
|
||
| 98 | N-linked (GlcNAc...) asparagine | |||
| 185 | N-linked (GlcNAc...) asparagine | |||
| 187 |
|
|||
| 309 | N-linked (GlcNAc...) asparagine | |||
| 310 |
|
|||
| 501 | N-linked (GlcNAc...) asparagine |
|
||
|
|
|
G48584BU
G70101JE
G65092SV
G14260UH
G64527OM
G05724UK
G39188ZX
G55037KS
G62894KT
G11314AS
G34617SM
G25059MC
G30769VJ
G90093AU
G08110WX
G25451PN
G45495MK
G84452RH
G46524LG
G47448YK
G12313PD
G11870QZ
G55383ZG
G72291OX
G74724QE
G49108TO
G86795LJ
G81198YO
G08146BT
G22310AV
G71146HJ
G75983OB
G80920RR
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 |
