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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Galactokinase
Summary
- UniProt ID
- P51570
- Gene Symbol
-
- GALK1
- GALK
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P51570
- PubChem
- P51570
- The Human Metabolome Database
- HMDBP01379
- The O-GlcNAc Database
- P51570
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Cataract
- Direct protein sequencing
- Disease variant
- Galactose metabolism
- Kinase
- Phosphoprotein
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| cytoplasm |
| membrane |
| extracellular exosome |
| cytosol |
| GO Term |
|---|
| galactokinase activity |
| ATP binding |
| galactose binding |
| L-arabinokinase activity |
Sequence
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRRRQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 66 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective GALK1 causes GALCT2 | Homo sapiens |
| Galactose 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:0110241 | cataract 41 | |
| DOID:0014667 | disease of metabolism | |
| DOID:0060733 | junctional epidermolysis bullosa with pyloric atresia | |
| DOID:0060738 | junctional epidermolysis bullosa non-Herlitz type | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080510 | epidermolysis bullosa simplex localized type | |
| DOID:0110227 | cataract 32 multiple types | |
| DOID:0110228 | cataract 8 multiple types | |
| DOID:0110229 | cataract 6 multiple types | |
| DOID:0110230 | cataract 34 multiple types |
