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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
heparan sulfate 6-O-sulfotransferase 1
Summary
- Gene Symbol
-
- HS6ST1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Coiled coil
- Disease variant
- Glycoprotein
- Hypogonadotropic hypogonadism
- Kallmann syndrome
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| O60243 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lung alveolus development | ||
| angiogenesis | ||
| labyrinthine layer blood vessel development | ||
| neuron development | ||
| heparan sulfate proteoglycan biosynthetic process, enzymatic modification |
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane |
|
|
| Golgi membrane |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| heparan sulfate 6-O-sulfotransferase activity | ||
| sulfotransferase activity |
|
|
| protein binding |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg031
- Gene Symbol
-
- HS6ST1
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | XP_237060 | XM_237060 |
| Drosophila melanogaster | NP_524409 | NM_079685 |
| Caenorhabditis elegans | NP_508895 | NM_076494 |
| Mus musculus | NP_056633 | NM_015818 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11661 | blue color blindness | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy | |
| DOID:12139 | dysthymic disorder | |
| DOID:12594 | Potter's syndrome | |
| DOID:12698 | gynecomastia | |
| DOID:12721 | multiple epiphyseal dysplasia | |
| DOID:12804 | mucopolysaccharidosis IV | |
| DOID:13174 | dissociated nystagmus | |
| DOID:13399 | color blindness |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000002 | Abnormality of body height |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000008 | Abnormal morphology of female internal genitalia |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0000026 | Male hypogonadism |
| HP:0000027 | Azoospermia |
| HP:0000028 | Cryptorchidism |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000054 | Micropenis |
| HP:0000104 | Renal agenesis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:478 |
|
| ORPHA:432 |
|
| OMIM:614880 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101693571 | MUSPF01669 | ||
| 101091388 | FELCA18152 | ||
| 122228763 | PANLE10922 | ||
| 118898074 | BALMU00047 | ||
| 100068973 | HORSE13081 | ||
| 100156717 | PIGXX09250 | ||
| 518563 | BOVIN23835 | ||
| 106502605 | CAPHI21172 | ||
| 105995165 | DIPOR17556 | ||
| 50785 | MGI:1354958 | MOUSE29233 |
