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Glycan Structure Repository
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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-hexosaminidase subunit alpha
Summary
- UniProt ID
- P06865
- Gene Symbol
-
- HEXA
- Organism
- Homo sapiens (human)
External Links
- GlyConnect
- GlyGen
- P06865
- PubChem
- P06865
- SwissLipids
- The Human Metabolome Database
- HMDBP00872
- The O-GlcNAc Database
- P06865
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Gangliosidosis
- Glycoprotein
- Glycosidase
- Lipid metabolism
- Lysosome
- Neurodegeneration
- Reference proteome
- Signal
- Zymogen
- Gene Ontology (GO)
| GO Term |
|---|
| ganglioside catabolic process |
| adult walking behavior |
| maintenance of location in cell |
| skeletal system development |
| carbohydrate metabolic process |
| glycosaminoglycan biosynthetic process |
| lysosome organization |
| GO Term |
|---|
| lysosomal lumen |
| beta-N-acetylhexosaminidase complex |
| membrane |
| azurophil granule |
| intracellular membrane-bounded organelle |
| extracellular exosome |
| cytosol |
| lysosome |
Sequence
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 115 | N-linked (GlcNAc...) asparagine |
|
||
| 157 | N-linked (GlcNAc...) asparagine | |||
| 224 |
|
|||
| 225 |
|
|||
| 226 |
|
|||
| 227 |
|
|
||
| 295 | N-linked (GlcNAc...) asparagine |
|
||
|
|
G35541EV
G93718GY
G20528HD
G63381RX
G72667IM
G83460ZZ
G49018RC
G72747WU
G70101JE
G80920RR
G02886BB
G75162EY
G90659AW
G45504EY
G62765YT
G64527OM
G62894KT
G28541PG
G05724UK
G31852PQ
G39188ZX
G41247ZX
G02815KT
G92050GC
G58001LT
G57321FI
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| CS/DS degradation | Homo sapiens |
| Defective HEXA causes GM2G1 | Homo sapiens |
| Glycosphingolipid catabolism | Homo sapiens |
| Hyaluronan uptake and degradation | Homo sapiens |
| Keratan sulfate degradation | 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:3071 | gliosarcoma | |
| DOID:0060058 | lymphoma | |
| DOID:0060160 | childhood spinal muscular atrophy | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0080490 | mucolipidosis type IV | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:1059 | intellectual disability | |
| DOID:10923 | sickle cell anemia |
