Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about SUMF1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
Comprehensive information about SUMF1 (Sulfatase Modifying Factor 1), an essential enzyme for sulfatase activity with implications in multiple sulfatase deficiency and neurodegenerative disease mechanisms.
| Gene Symbol | SUMF1 |
| Aliases | Sulfatase Modifying Factor 1, Page for SUMF1 Protein |
| Chromosome | 3p26.1 |
| Function | The SUMF1 protein, also known as formylglycine-generating enzyme (FGE), catalyzes the conversion of a conserved cysteine residue to formylglycine (FGly) in the active site of all sulfatases. |
| Primary Expression | Brain, Liver, Kidney, Lung |
| Molecular Weight | 42 kDa |
| Amino Acids | 345 aa |
| Exons | 9 |
| Pathways | oxidative stress response |
| UniProt ID | Q8IWU6 |
| NCBI Gene ID | 285362 |
| Ensembl ID | ENSG00000144455 |
| OMIM | 272300 |
| GeneCards | SUMF1 |
| Human Protein Atlas | SUMF1 |
| Associated Diseases | Multiple Sulfatase Deficiency |
| KG Connections | 23 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
SUMF1["<b>SUMF1</b>"]
Als{"Als"}
SUMF1 -->|"biomarker_for"| Als
Parkinson{"Parkinson"}
SUMF1 -->|"biomarker_for"| Parkinson
ALS{"ALS"}
SUMF1 -->|"biomarker_for"| ALS
GBA(["GBA"])
SUMF1 -->|"biomarker_for"| GBA
AADC(["AADC"])
SUMF1 -->|"biomarker_for"| AADC
PARKINSON(["PARKINSON"])
SUMF1 -->|"biomarker_for"| PARKINSON
DDC(["DDC"])
DDC -->|"biomarker_for"| SUMF1
DAT(["DAT"])
DAT -->|"biomarker_for"| SUMF1
GBA_MUTATIONS(["GBA MUTATIONS"])
GBA_MUTATIONS -->|"biomarker_for"| SUMF1
style SUMF1 fill:#1a3a4a,stroke:#ce93d8,stroke-width:3px,color:#ce93d8| Target | Relation | Type | Str |
|---|---|---|---|
| Als | biomarker_for | disease | 0.65 |
| Parkinson | biomarker_for | disease | 0.65 |
| ALS | biomarker_for | disease | 0.65 |
| GBA | biomarker_for | gene | 0.60 |
| AADC | biomarker_for | gene | 0.60 |
| LRRK2 | biomarker_for | gene | 0.60 |
| DDC | biomarker_for | gene | 0.60 |
| Rb | biomarker_for | protein | 0.60 |
| PARKINSON | biomarker_for | gene | 0.60 |
| DAT | biomarker_for | gene | 0.60 |
| App | biomarker_for | protein | 0.60 |
| oxidative stress response | participates_in | pathway | 0.60 |
| AADC | associated_with | concept | 0.50 |
| Source | Relation | Type | Str |
|---|---|---|---|
| DDC | biomarker_for | gene | 0.60 |
| LRRK2 | biomarker_for | gene | 0.60 |
| GBA | biomarker_for | gene | 0.60 |
| AADC | biomarker_for | gene | 0.60 |
| DAT | biomarker_for | gene | 0.60 |
| GBA MUTATIONS | biomarker_for | gene | 0.60 |
| PARKINSON | biomarker_for | gene | 0.60 |
| AND | biomarker_for | gene | 0.60 |
| PARKINSON'S DISEASE | biomarker_for | gene | 0.60 |
| DDC | associated_with | gene | 0.35 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||