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MIRAGE
heparan sulfate 2-O-sulfotransferase 1
Summary
- Gene Symbol
-
- HS2ST1
- Aliases
-
- KIAA0448
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Coiled coil
- Disease variant
- Disulfide bond
- Glycoprotein
- Golgi apparatus
- Intellectual disability
- Proteomics identification
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q7LGA3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| gene expression |
|
|
| heparan sulfate proteoglycan biosynthetic process |
|
|
| heparin proteoglycan metabolic process |
|
|
| ureteric bud formation |
|
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane |
|
|
| Golgi membrane |
|
|
| Golgi membrane |
|
|
| Golgi apparatus |
|
|
| membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| heparan sulfate 2-sulfotransferase activity |
|
|
| heparan sulfate 2-sulfotransferase activity |
|
|
| heparan sulfate 2-sulfotransferase activity |
|
|
| protein binding |
|
|
| sulfotransferase activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- 2-O-sulfotransferase
- Functional Category
-
- G: Carbohydrate transport and metabolism
- H: Coenzyme transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
| Gene Ontology |
|---|
| sulfotransferase activity |
| InterPro |
|---|
| Heparan sulphate 2-O-sulfotransferase |
| P-loop containing nucleoside triphosphate hydrolase |
| Sulfotransferase |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg024
- Gene Symbol
-
- HS2ST1
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Caenorhabditis elegans | NP_509871 | NM_077470 |
| Mus musculus | NP_035958 | NM_011828 |
| Drosophila melanogaster | NP_477339 | NM_057991 |
| Rattus norvegicus | XP_214740 | XM_214740 |
Disease
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000072 | Hydroureter |
| HP:0000122 | Unilateral renal agenesis |
| HP:0000154 | Wide mouth |
| HP:0000158 | Macroglossia |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
| Disease ID | Disease Name |
|---|---|
| OMIM:619194 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP003473
- Gene Name
- heparan sulfate 2-O-sulfotransferase 1
