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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
sulfatase modifying factor 1
Summary
- Gene Symbol
-
- SUMF1
- Aliases
-
- FGE
- UNQ3037
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 285362
- HGNC
- 20376
- KEGG Gene ID
- hsa:285362
- PubChem
- 285362
- Alliance of Genome Resources
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium
- Copper
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycoprotein
- Ichthyosis
- Metachromatic leukodystrophy
- Metal-binding
- Mucopolysaccharidosis
- Oxidoreductase
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8NBK3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosphingolipid catabolic process |
|
|
| post-translational protein modification | ||
| protein oxidation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum lumen |
|
|
| endoplasmic reticulum |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxidoreductase activity |
|
|
| cupric ion binding | ||
| formylglycine-generating oxidase activity | ||
| protein binding | ||
| identical protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050441 | mucosulfatidosis | |
| DOID:0060215 | Balo concentric sclerosis | |
| DOID:0060292 | X-linked chondrodysplasia punctata 1 | |
| DOID:0060293 | autosomal dominant chondrodysplasia punctata | |
| DOID:0080029 | autosomal recessive spinocerebellar ataxia 16 | |
| DOID:0110851 | rhizomelic chondrodysplasia punctata type 1 | |
| DOID:0110852 | rhizomelic chondrodysplasia punctata type 2 | |
| DOID:0110853 | rhizomelic chondrodysplasia punctata type 3 | |
| DOID:0111390 | mucopolysaccharidosis Ih | |
| DOID:0111391 | mucopolysaccharidosis IVA |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000518 | Cataract |
| HP:0000546 | Retinal degeneration |
| HP:0000574 | Thick eyebrow |
| HP:0000648 | Optic atrophy |
| HP:0000943 | Dysostosis multiplex |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| Disease ID | Disease Name |
|---|---|
| ORPHA:585 |
|
| OMIM:272200 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101020755 | PAPAN25241 | ||
| 105528645 | MANLE29997 | ||
| 101150774 | GORGO28628 | ||
| 100986538 | PANPA27125 | ||
| 470739 | PANTR30305 | ||
| 100446797 | PONAB26858 | ||
| 484681 | CANLF07321 | ||
| 112908871 | VULVU03483 | ||
| 123799164 | URSAM04755 | ||
| 105237960 | AILME12020 |
