FUCA1 Gene Summary [Human]
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | FUCA1 |
| Official Name | alpha-L-fucosidase 1 [Source:HGNC Symbol;Acc:HGNC:4006] |
| Ensembl ID | ENSG00000179163 |
| Bio databases IDs | |
| Aliases | alpha-L-fucosidase 1, α-L-fucosidase 1, tissue fucosidase, a-L-fucosidase 1 |
| Synonyms | 0610006A03Rik, 9530055J05Rik, Afuc, alpha-L-fucosidase 1, FUCA, fucosidase, alpha-L- 1, tissue, fucosidase, α-L- 1, tissue, α-L-fucosidase 1 |
| 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 FUCA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Alpha-L-fucosidase C-terminal domain
- Alpha amylase catalytic domain family
- enzyme
- fucosidase
- protein binding
- carbohydrate binding
- alpha-L-fucosidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fucosidosis
- hereditary disorder
- EGFR mutation positive adenocarcinoma of the lung
- EGFR mutation positive non-small cell lung cancer
- lung adenocarcinoma formation
- EGFR expression positive non-squamous non-small cell lung cancer
- amyotrophic lateral sclerosis
- diabetes mellitus
- stuttering
- astrocytosis
regulates
- cholesterol
- fucose
- enzyme
role in cell
- formation
- abnormal morphology
- degeneration
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
- intracellular membrane-bounded organelle
- azurophil granule lumen
- Extracellular Space
- lysosome
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FUCA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycoside catabolic process
- glycolipid catabolic process
- fucose metabolic process
- glycosaminoglycan catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- intracellular membrane-bounded organelle
- lysosomal lumen
- extracellular region
- azurophil granule lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- alpha-L-fucosidase activity