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The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
CHST6 (Carbohydrate Sulfotransferase 6) is a Protein Coding gene. Diseases associated with CHST6 include Macular Dystrophy, Corneal and Corneal Dystrophy. Among its related pathways are Keratan sulfate/keratin metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and N-acetylglucosamine 6-O-sulfotransferase activity. An important paralog of this gene is CHST5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001517 | N-acetylglucosamine 6-O-sulfotransferase activity | TAS | 11181564 |
GO:0008146 | sulfotransferase activity | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | TAS | 11181564 |
GO:0005802 | trans-Golgi network | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratan sulfate/keratin metabolism | ||
2 | Glycosaminoglycan 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 | IDA | 11352640 |
GO:0006790 | sulfur compound metabolic process | IBA,IDA | 11352640 |
GO:0018146 | keratan sulfate biosynthetic process | IDA,TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Keratan |
|
69992-87-6 |
|
|||
Poly-N-acetyllactosamine |
|
82441-98-3 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHST6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHST6 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
CHST6 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | Chst5 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Chst5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
CHST6 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chst6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:194879 30 |
|
||
CHST5 31 |
|
OneToMany | |||
zgc64166 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7498 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG31637 30 31 |
|
ManyToMany | |
CG9550 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009809 30 |
|
||
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 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710373 | Benign: Macular corneal dystrophy Type I; not provided | 75,479,001(-) | C/T | SYNONYMOUS_VARIANT | |
758330 | Likely Benign: not provided | 75,479,208(-) | C/T | SYNONYMOUS_VARIANT | |
778124 | Benign: Macular corneal dystrophy Type I | 75,479,061(-) | G/A | SYNONYMOUS_VARIANT | |
784588 | Benign/Likely Benign: Macular corneal dystrophy Type I; not provided | 75,479,592(-) | G/A | SYNONYMOUS_VARIANT | |
784589 | Benign/Likely Benign: Macular corneal dystrophy Type I; not provided | 75,479,699(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007873 | CNV | gain | 20482838 |
esv2672875 | CNV | deletion | 23128226 |
esv2714710 | CNV | deletion | 23290073 |
esv2758657 | CNV | gain | 17122850 |
esv3571642 | CNV | gain | 25503493 |
esv3639093 | CNV | loss | 21293372 |
esv3639094 | CNV | loss | 21293372 |
nsv1059777 | CNV | loss | 25217958 |
nsv1063718 | CNV | gain | 25217958 |
nsv1065995 | CNV | loss | 25217958 |
nsv1134565 | CNV | deletion | 24896259 |
nsv457521 | CNV | gain | 19166990 |
nsv516675 | CNV | gain+loss | 19592680 |
nsv525955 | CNV | loss | 19592680 |
nsv572979 | CNV | gain | 21841781 |
nsv572980 | CNV | loss | 21841781 |
nsv572981 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
macular dystrophy, corneal |
|
|
corneal dystrophy |
|
|
corneal disease |
|
|
stromal dystrophy |
|
|
corneal endothelial dystrophy |
|
|