GMPPA Gene Summary [Human]
This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GMPPA |
| Official Name | GDP-mannose pyrophosphorylase A [Source:HGNC Symbol;Acc:HGNC:22923] |
| Ensembl ID | ENSG00000144591 |
| Bio databases IDs | |
| Aliases | GDP-mannose pyrophosphorylase A |
| Synonyms | 1810012N01Rik, AAMR, GDP-mannose pyrophosphorylase A |
| 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 GMPPA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bacterial transferase hexapeptide (six repeats)
- mannose-1-phosphate guanylyltransferase
- archaeal GlmU
- LbetaH
- mannose-1-phosphate guanylyltransferase (GDP)
- enzyme inhibitor activity
- enzyme binding
- enzyme
- enzyme regulator activity
- protein binding
- glycosyltransferase family A
- glucose-1-phosphate thymidylylransferase, long form
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- centronuclear myopathy
- alacrima, achalasia, and mental retardation syndrome
- myopathy
- progressive muscle weakness
regulates
- GDP-D-mannose
- glycoprotein
role in cell
- apoptosis
- abnormal morphology
- degeneration
- diameter
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 GMPPA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- transferase activity