SUMF1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sulfatase modifying factor 1 | MIM:607939 | Ensembl:ENSG00000144455 | HGNC:HGNC:20376 | PA134977552 | 3p26.1 |
Gene Categories:
DRUGGABLE GENOMEGO terms in SUMF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0016491 | oxidoreductase activity |
| MF | IEA | GO:0042803 | protein homodimerization activity |
| MF | IDA | GO:0120147 | Formylglycine-generating oxidase activity |
| MF | IDA | GO:1903135 | cupric ion binding |
| CC | IBA | GO:0005783 | endoplasmic reticulum |
| CC | IDA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| BP | TAS | GO:0006687 | glycosphingolipid metabolic process |
| BP | IDA | GO:0018158 | protein oxidation |
| BP | IDA | GO:0043687 | post-translational protein modification |
| BP | TAS | GO:0043687 | post-translational protein modification |
Gene expression in normal tissue: SUMF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SUMF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163841 | Gamma carboxylation, hypusine formation and arylsulfatase activation |
| reactome | R-HSA-1660662 | Glycosphingolipid metabolism |
| reactome | R-HSA-1663150 | The activation of arylsulfatases |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-428157 | Sphingolipid metabolism |
| reactome | R-HSA-556833 | Metabolism of lipids |
| reactome | R-HSA-597592 | Post-translational protein modification |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SUMF1
CLASSFICATION
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