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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:0000007 | Autosomal recessive inheritance |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000319 | Smooth philtrum |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000463 | Anteverted nares |
| HP:0000505 | Visual impairment |
| 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 |
|---|---|---|---|
| 38022 | FB:FBgn0035102 | ||
| 103185048 | CALMI31315 | ||
| 553423 | ZFIN:ZDB-GENE-060421-3113 | DANRE38296 | |
| 108271736 | ICTPU01991 | ||
| 113575976 | ELEEL17913 | ||
| 105017007 | ESOLU50117 | ||
| 115207912 | SALTR37266 | ||
| 115557787 | GADMO10231 | ||
| 101167950 | ORYLA14329 | ||
| 100705306 | ORENI60267 |
