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Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]
HS3ST1 (Heparan Sulfate-Glucosamine 3-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS3ST1 include Arteriosclerosis and Spherocytosis, Type 3. Among its related pathways are Cytochrome P450 - arranged by substrate type and heparan sulfate biosynthesis. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity. An important paralog of this gene is HS3ST5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008146 | sulfotransferase activity | IEA,TAS | 9988767 |
GO:0008467 | [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005796 | Golgi lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosaminoglycan metabolism | ||
2 | heparan sulfate biosynthesis | ||
3 | Articular Cartilage Extracellular Matrix | ||
4 | Metabolism |
.40
|
|
5 | Cytochrome P450 - arranged by substrate type |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HS3ST1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HS3ST1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HS3ST1 30 |
|
||
3OST1 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Hs3st1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hs3st1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HS3ST1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HS3ST1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HS3ST1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hs3st1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398971 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hs3st1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Hs3st-A 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hst-3 32 |
|
|
|
hst-3.1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs16881446 | Risk Factor: Coronary artery disease; Arteriosclerosis | 11,406,961(-) | T/C | INTRON_VARIANT | |
rs11559238 | - | p.Pro22Thr | |||
rs34719057 | - | p.Lys295Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3599645 | CNV | loss | 21293372 |
nsv1000613 | CNV | loss | 25217958 |
nsv1010891 | CNV | loss | 25217958 |
nsv829862 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arteriosclerosis |
|
|
spherocytosis, type 3 |
|
|
coronary heart disease 1 |
|
|
overhydrated hereditary stomatocytosis |
|
|
acute retinal necrosis syndrome |
|
|