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The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
HS6ST1 (Heparan Sulfate 6-O-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS6ST1 include Hypogonadotropic Hypogonadism 15 With Or Without Anosmia and Kallmann Syndrome. 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 6-O-sulfotransferase activity. An important paralog of this gene is HS6ST3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008146 | sulfotransferase activity | TAS | 9535912 |
GO:0016740 | transferase activity | IEA | -- |
GO:0017095 | heparan sulfate 6-O-sulfotransferase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9535912 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosaminoglycan metabolism | ||
2 | heparan sulfate biosynthesis | ||
3 | Articular Cartilage Extracellular Matrix | ||
4 | Metabolism |
.40
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|
5 | Cytochrome P450 - arranged by substrate type |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0006024 | glycosaminoglycan biosynthetic process | TAS | -- |
GO:0015012 | heparan sulfate proteoglycan biosynthetic process | IEA | -- |
GO:0015015 | heparan sulfate proteoglycan biosynthetic process, enzymatic modification | TAS,IBA | 21873635 |
GO:0048286 | lung alveolus development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | HS6ST1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | HS6ST1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HS6ST1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hs6st1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HS6ST1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hs6st1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | HS6ST1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HS6ST1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HS6ST1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hs6st1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hs6st1b 31 |
|
OneToOne | |
hs6st1a 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001444 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Hs6st 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hst-6 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
770340 | Benign/Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia; not provided | 128,268,653(-) | G/T | MISSENSE_VARIANT | |
801750 | Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia | 128,268,286(-) | C/T | MISSENSE_VARIANT | |
801751 | Likely Benign: Hypogonadotropic hypogonadism 7 with or without anosmia | 128,318,303(-) | G/T | MISSENSE_VARIANT | |
rs199538589 | Conflicting Interpretations: Hypogonadotropic hypogonadism 7 with or without anosmia; not specified. Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] | 128,268,254(-) | G/Ap.Arg382Trp | MISSENSE_VARIANT | |
rs200268730 | Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880] | p.Pro218Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3307872 | CNV | mobile element insertion | 20981092 |
esv3326024 | CNV | insertion | 20981092 |
esv3592380 | CNV | gain | 21293372 |
esv3592381 | CNV | gain | 21293372 |
esv3592382 | CNV | loss | 21293372 |
esv3592383 | CNV | gain | 21293372 |
esv3592384 | CNV | gain | 21293372 |
esv3592386 | CNV | gain | 21293372 |
nsv459263 | CNV | loss | 19166990 |
nsv516672 | CNV | loss | 19592680 |
nsv583039 | CNV | loss | 21841781 |
nsv583040 | CNV | gain | 21841781 |
nsv583041 | CNV | loss | 21841781 |
nsv821708 | CNV | gain | 20364138 |
nsv834368 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypogonadotropic hypogonadism 15 with or without anosmia |
|
|
kallmann syndrome |
|
|
normosmic congenital hypogonadotropic hypogonadism |
|
|
hypogonadism |
|
|
hypogonadotropic hypogonadism |
|
|