SUMF1 Gene
Sulfatase Modifying Factor 1
Gene Information Card
| Symbol | SUMF1 |
|---|---|
| Full Name | Sulfatase Modifying Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p26.1 |
| NCBI Gene ID | 285362 ncbi.nlm.nih.gov/gene/285362 |
| Ensembl ID | ENSG00000144455 |
| UniProt ID | Q8NBK3 |
| OMIM ID | 607939 |
| HGNC ID | 20376 |
| Aliases | FGE, UNQ3037, C-alpha-formylglycine-generating enzyme |
Description
The SUMF1 gene encodes the formylglycine-generating enzyme (FGE), which is essential for the post-translational activation of all sulfatases. FGE catalyzes the conversion of a specific cysteine residue in the active site of sulfatases to C-alpha-formylglycine, a modification required for catalytic activity. Mutations in SUMF1 cause multiple sulfatase deficiency (MSD), a rare autosomal recessive disorder characterized by the accumulation of sulfated metabolites.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Sulfatase Deficiency (MSD) | Loss-of-function mutations in SUMF1 impair FGE activity, preventing activation of all sulfatases, leading to accumulation of sulfated glycosaminoglycans and sulfolipids. | ClinVar, OMIM |
| Atypical Multiple Sulfatase Deficiency | Partial loss of FGE activity results in milder, later-onset forms of MSD with variable clinical severity. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Heart | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.2 | Embryonic kidney cells |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.836A>G (p.Asn279Ser) | Missense | Unknown | Reduced FGE activity; associated with MSD |
| c.103C>T (p.Arg35*) | Nonsense | Unknown | Premature stop; loss of function; MSD |
| c.739G>A (p.Gly247Arg) | Missense | Unknown | Impaired substrate binding; MSD |
Mutation functional classification
Loss of Function (LOF)
Most SUMF1 mutations result in loss of FGE enzymatic activity, leading to multiple sulfatase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; MSD is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sulfatase activation pathway
• Glycosaminoglycan degradation
• Sphingolipid metabolism
Protein Summary
The SUMF1 protein, known as formylglycine-generating enzyme (FGE), is a 374-amino acid protein localized in the endoplasmic reticulum and Golgi. It catalyzes the oxidation of a specific cysteine residue in sulfatases to C-alpha-formylglycine, a unique post-translational modification essential for sulfatase activity. FGE requires molecular oxygen and a reducing agent for its function. Defects in FGE lead to multiple sulfatase deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUMF1 Knockout HEK293 Cell Line | EDJ-KQ15565 | Human | 285362 | Details Get a Quote |
| SUMF1 Knockout A-549 Cell Line | EDJ-KQ46422 | Human | 285362 | Details Get a Quote |
| SUMF1 Knockout HCT 116 Cell Line | EDJ-KQ46423 | Human | 285362 | Details Get a Quote |
| SUMF1 Knockout HeLa Cell Line | EDJ-KQ46424 | Human | 285362 | Details Get a Quote |
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