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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
1,4-alpha-glucan-branching enzyme
Summary
- UniProt ID
- Q04446
- Gene Symbol
-
- GBE1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Disease variant
- Glycogen biosynthesis
- Glycogen storage disease
- Glycosyltransferase
- Neuropathy
- Phosphoprotein
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| cytoplasm |
| extracellular exosome |
| cytosol |
Sequence
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYRFDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPALCSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSLAFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| GSD IV | Homo sapiens |
| Glycogen synthesis | 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:0014667 | disease of metabolism | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0060235 | carnitine palmitoyltransferase II deficiency | |
| DOID:0060250 | idiopathic scoliosis | |
| DOID:0060262 | gallbladder disease | |
| DOID:0060357 | chylomicron retention disease | |
| DOID:0060578 | Noonan syndrome 1 | |
| DOID:0080110 | contractures, pterygia, and spondylocarpotarsal fusion syndrome | |
| DOID:0110425 | dilated cardiomyopathy 1A |
