GALK1 Gene Summary [Human]
Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GALK1 |
| Official Name | galactokinase 1 [Source:HGNC Symbol;Acc:HGNC:4118] |
| Ensembl ID | ENSG00000108479 |
| Bio databases IDs | |
| Aliases | galactokinase 1 |
| Synonyms | Galactokinase 1, GALK, Gk, GK1, GLK, Glk1, HEL-S-19 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GALK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- galactokinase
- Galactokinase galactose-binding signature
- GHMP kinases C terminal
- galactose binding
- ATP binding
- GHMP kinases N terminal domain
- protein binding
- mevalonate kinase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- deficiency of galactokinase
- hepatitis B virus-related hepatocellular carcinoma
- liver cancer
- epithelial cancer
- alveolar rhabdomyosarcoma
- soft tissue sarcoma cancer
- hepatitis C virus-related hepatocellular carcinoma
regulates
- galactitol
- D-galactose
- carbohydrate
- galactose-1-phosphate
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GALK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- galactose catabolic process
- galactose catabolic process via UDP-galactose
- galactose metabolic process
- carbohydrate phosphorylation
- galactitol metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- galactokinase activity
- galactose binding