SUMF1 Gene Summary [Human]
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Details
| Type | Processed Transcript |
| Official Symbol | SUMF1 |
| Official Name | sulfatase modifying factor 1 [Source:HGNC Symbol;Acc:HGNC:20376] |
| Ensembl ID | ENSG00000144455 |
| Bio databases IDs | |
| Aliases | sulfatase modifying factor 1 |
| Synonyms | AAPA3037, AI463102, FGE, LOC101927236, sulfatase modifying factor 1, sulphatase modifying factor 1, UNQ3037 |
| 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 SUMF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- copper ion binding
- sulfur group:oxygen oxidoreductase
- gliding motility-associated lipoprotein GldK
- oxidoreductase
- Sulfatase-modifying factor enzyme 1
- enzyme
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- rubella
- multiple sulfatase deficiency
- hereditary disorder
- idiopathic scoliosis
- colorectal cancer
- periodontitis
- multiple sclerosis
- fracture of bone
- refractive error
role in cell
- number
- formation
- frequency
- development
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
- endosomes
- lysosome
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
- cis face of the Golgi apparatus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SUMF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycosphingolipid catabolic process
- protein oxidation
- post-translational protein modification
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- oxidoreductase activity