GMDS Gene Summary [Human]
GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]
Details
| Type | Processed Transcript |
| Official Symbol | GMDS |
| Official Name | GDP-mannose 4,6-dehydratase [Source:HGNC Symbol;Acc:HGNC:4369] |
| Ensembl ID | ENSG00000112699 |
| Bio databases IDs | |
| Aliases | GDP-mannose 4,6-dehydratase, short chain dehydrogenase/reductase family 3E, member 1 |
| Synonyms | GDP-mannose 4, 6-dehydratase, GMD, SDR3E1 |
| 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 GMDS 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
- GDPmannose 4,6-dehydratase
- binding protein
- NADP binding
- NAD dependent epimerase/dehydratase family
- enzyme
- protein binding
- identical protein binding
- GDP-mannose 4,6 dehydratase
- 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
- non-insulin-dependent diabetes mellitus
- gout
- open-angle glaucoma
- renal clear cell adenocarcinoma
- renal clear cell cancer
- glaucoma
- diabetic nephropathy
- normal tension glaucoma
- hemorrhoid
- prostatic carcinoma
role in cell
- apoptosis
- formation in
- fucosylation 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
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GMDS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Notch signaling pathway
- 'de novo' GDP-L-fucose biosynthetic process
- GDP-mannose metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- NADP+ binding
- GDP-mannose 4,6-dehydratase activity