SUMF1 - sulfatase modifying factor 1 Gene
Also Known as FGE; UNQ3037; AAPA3037
Species: Homo sapiens
About SUMF1
This gene has 8 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues.
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]
SUMF1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001164674.2 | NP_001158146.1 | formylglycine-generating enzyme isoform 2 precursor |
| NM_001164675.2 | NP_001158147.1 | formylglycine-generating enzyme isoform 3 precursor |
| NM_182760.4 | NP_877437.2 | formylglycine-generating enzyme isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cupric ion binding |
IDA
IDA: Inferred from direct assay
|
25931126 | GOA |
| enables formylglycine-generating oxidase activity |
IDA
IDA: Inferred from direct assay
|
21224894 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
15962010 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15962010 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in post-translational protein modification |
IDA
IDA: Inferred from direct assay
|
21224894 | GOA |
| involved in protein oxidation |
IDA
IDA: Inferred from direct assay
|
21224894 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
18266766 | GOA |
SUMF1 Protein Structure
FGE-sulfatase: Sulfatase-modifying factor enzyme 1 (90 - 367)
- 0
- 100
- 200
- 300
- 374 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
formylglycine-generating enzyme |
|
SUMF1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SUMF1 | Q8NBK3 | SGSH | Homo sapiens | P51688 | 15962010 | |
|
Intra
|
SUMF1 | Q8NBK3 | SUMF2 | Homo sapiens | Q8NBJ7 | 15962010 | |
|
Intra
|
SUMF1 | Q8NBK3 | SUMF2 | Homo sapiens | Q8NBJ7 | 15962010 | |
|
Intra
|
SUMF1 | Q8NBK3 | SUMF2 | Homo sapiens | Q8NBJ7 | 15962010 | |
|
Intra
|
SUMF1 | Q8NBK3 | SUMF2 | Homo sapiens | Q8NBJ7 | 15962010 |
Recombinant SUMF1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71345 | SUMF1 Protein, Human (HEK293, His) | Q8NBK3-1 (S34-D374) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Multiple Sulfatase Deficiency |
|
|
| Metachromatic Leukodystrophy |
|
|
| Spinocerebellar Ataxia 15 |
|
|
| Leukodystrophy |
|
|
| Scheie Syndrome |
|
|
| Lysosomal Storage Disease |
|
|
| X-Linked Chondrodysplasia Punctata 1 |
|
|
| Mucopolysaccharidosis Iii |
|
|
| Mucopolysaccharidosis, Type Iva |
|
|
| Hurler-Scheie Syndrome |
|
|
| Mucopolysaccharidosis, Type Iiia |
|
|
| Mucopolysaccharidosis, Type Iiib |
|
|
| Ichthyosis, X-Linked |
|
|
| Mucopolysaccharidosis Iv |
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
|
| Mucopolysaccharidosis, Type Ii |
|
|
| Mucopolysaccharidosis, Type Vi |
|
|
| Mucopolysaccharidosis, Type Iiid |
|
|
| Spinocerebellar Ataxia 25 |
|
|
| Ichthyosis |
|
|
| Hurler Syndrome |
|
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
|
| Kanzaki Disease |
|
|
| Gm2-Gangliosidosis, Ab Variant |
|
|
| Mucopolysaccharidosis, Type Iiic |
|
|
| Epidermolysis Bullosa, Junctional 1b, Severe |
|
|
| Gm1 Gangliosidosis |
|
|
| Canavan Disease |
|
|
| Sphingolipidosis |
|
|
| Gillespie Syndrome |
|
|
| Mucopolysaccharidosis, Type Ivb |
|
|
| Gangliosidosis |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Tay-Sachs Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SUMF1 | MGD | MGI:1889844 |
| Felis catus | SUMF1 | VGNC | VGNC:65840 |
| Canis familiaris | SUMF1 | VGNC | VGNC:46982 |
| Macaca mulatta | SUMF1 | VGNC | VGNC:78177 |
| Bos taurus | SUMF1 | VGNC | VGNC:35471 |
| Others | SUMF1 | NCBI |