COLGALT1 Gene Summary [Human]
The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | COLGALT1 |
| Official Name | collagen beta(1-O)galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:26182] |
| Ensembl ID | ENSG00000130309 |
| Bio databases IDs | |
| Aliases | collagen beta(1-O)galactosyltransferase 1, Procollagen galactosyltransferase, Hydroxylysine galactosyltransferase |
| Synonyms | 2810024B22Rik, BSVD3, collagen beta(1-O)galactosyltransferase 1, collagen β(1-O)galactosyltransferase 1, GLT25D1, MGC38524, RGD1309002 |
| 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 COLGALT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl transferase family 2
- Glyco_transf_25
- procollagen galactosyltransferase
- enzyme
- glycosyltransferase family A
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- brain small vessel disease type 3
- colorectal cancer
- growth failure
- hereditary disorder
role in cell
- proliferation
- expression in
- accumulation in
- abnormal morphology
- organization
- glycosylation in
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
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human COLGALT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- collagen fibril organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- membrane
Molecular Function
What the gene product does at the molecular level
- procollagen galactosyltransferase activity