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This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
CHST3 (Carbohydrate Sulfotransferase 3) is a Protein Coding gene. Diseases associated with CHST3 include Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations and Larsen Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and chondroitin 6-sulfotransferase activity. An important paralog of this gene is CHST1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001517 | N-acetylglucosamine 6-O-sulfotransferase activity | IBA | 21873635 |
GO:0008146 | sulfotransferase activity | TAS | 9883891 |
GO:0008459 | chondroitin 6-sulfotransferase activity | IBA,IDA | 9883891 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005802 | trans-Golgi network | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycosaminoglycan metabolism | ||
2 | Chondroitin sulfate/dermatan sulfate metabolism | ||
3 | Articular Cartilage Extracellular Matrix | ||
4 | Metabolism |
.40
|
|
5 | Cytochrome P450 - arranged by substrate type |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006044 | N-acetylglucosamine metabolic process | IBA | 21873635 |
GO:0006790 | sulfur compound metabolic process | IBA,IDA | 9883891 |
GO:0030206 | chondroitin sulfate biosynthetic process | IBA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Docetaxel | Approved, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2330 | ||
Thalidomide | Approved, Investigational, Withdrawn | Pharma | Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents | 429 | ||
3'-phospho-5'-adenylyl sulfate | Experimental | Pharma | 0 | |||
Adenosine 3',5'-diphosphate | Experimental | Pharma | 0 | |||
Chondroitin | Pharma | 74 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Chondroitin 6'-sulfate |
|
|
|
|||
Keratan |
|
69992-87-6 |
|
|||
n-acetyllactosamine |
|
32181-59-2 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHST3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHST3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHST3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chst3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CHST3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Chst3 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHST3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHST3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chst3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chst3b 30 31 |
|
OneToMany | |
chst3a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9550 31 |
|
ManyToMany | |
CG31637 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
CSA.5535 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
6045 | Pathogenic: Spondyloepiphyseal dysplasia with congenital joint dislocations | 72,008,116(+) | TG/T | FRAMESHIFT_VARIANT | |
694680 | Pathogenic: Larsen syndrome, dominant type | 72,008,283(+) | CAGA/C | INFRAME_DELETION | |
715153 | Conflicting Interpretations: Spondyloepiphyseal dysplasia with congenital joint dislocations | 72,008,166(+) | C/T | SYNONYMOUS_VARIANT | |
737568 | Likely Benign: not provided | 72,008,216(+) | G/A | SYNONYMOUS_VARIANT | |
742648 | Conflicting Interpretations: Spondyloepiphyseal dysplasia with congenital joint dislocations; not provided | 72,007,454(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1263n54 | CNV | loss | 21841781 |
esv3623787 | CNV | loss | 21293372 |
nsv1122538 | CNV | deletion | 24896259 |
nsv551509 | CNV | loss | 21841781 |
nsv551512 | CNV | loss | 21841781 |
nsv7110 | CNV | insertion | 18451855 |
nsv820285 | CNV | loss | 19587683 |