GFUS Gene Summary [Human]
Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GFUS |
| Official Name | GDP-L-fucose synthase [Source:HGNC Symbol;Acc:HGNC:12390] |
| Ensembl ID | ENSG00000104522 |
| Bio databases IDs | |
| Aliases | GDP-L-fucose synthase, short chain dehydrogenase/reductase family 4E, member 1 |
| Synonyms | FX, GDP-L-fucose synthase, P35B, SDR4E1, TSTA3, Tstap35b |
| 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 GFUS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- electron carrier
- 3-beta hydroxysteroid dehydrogenase/isomerase family
- GDP-L-fucose synthase
- NAD dependent epimerase/dehydratase family
- GDP-4-dehydro-D-rhamnose reductase
- isomerase
- GDPmannose 3,5-epimerase
- enzyme
- protein binding
- identical protein binding
- GDP-mannose 4,6 dehydratase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diarrhea
- pulmonary fibrosis
- HER2 negative hormone receptor negative breast cancer
- infertility condition
role in cell
- expression in
- number
- migration
- interaction
- adhesion
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GFUS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 'de novo' GDP-L-fucose biosynthetic process
- GDP-mannose metabolic process
- positive regulation of endothelial cell migration
- leukocyte cell-cell adhesion
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- GDP-mannose 3,5-epimerase activity
- identical protein binding
- protein binding
- electron carrier activity
- GDP-4-dehydro-D-rhamnose reductase activity
- GDP-L-fucose synthase activity