Search results for CHST3

Showing 12 results out of 14

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Protein (6 results from a total of 8)

CHST3

Identifier: R-HSA-1971541
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST3: Q7LGC8

CHST3 E372K

Identifier: R-HSA-3636822
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST3: Q7LGC8

CHST3 L259P

Identifier: R-HSA-3636789
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST3: Q7LGC8

CHST3 R304Q

Identifier: R-HSA-3636788
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST3: Q7LGC8

CHST3 R222W

Identifier: R-HSA-3636785
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST3: Q7LGC8

CHST3 L307P

Identifier: R-HSA-3636832
Species: Homo sapiens
Compartment: Golgi membrane
Primary external reference: UniProt: CHST3: Q7LGC8

Set (2 results from a total of 2)

CHST3 mutants

Identifier: R-HSA-3636853
Species: Homo sapiens
Compartment: Golgi membrane

CHST3,7

Identifier: R-HSA-2018661
Species: Homo sapiens
Compartment: Golgi membrane

Pathway (1 results from a total of 1)

Defective CHST3 causes SEDCJD

Identifier: R-HSA-3595172
Species: Homo sapiens
Carbohydrate sulfotransferase 3 (CHST3) transfers sulfate (SO4(2-)) to position 6 of N-acetylgalactosamine (GalNAc) residues of chondroitin-containg proteins resulting in chondroitin sulfate (CS), the predominant glycosaminoglycan present in cartilage. Defects in CHST3 result in spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; MIM:143095), a bone dysplasia clinically characterized by severe progressive kyphoscoliosis (abnormal curvature of the spine), arthritic changes with joint dislocations and short stature in adulthood (Unger et al. 2010).

Reaction (2 results from a total of 2)

Defective CHST3 does not transfer SO4(2-) to chondroitin

Identifier: R-HSA-3595175
Species: Homo sapiens
Compartment: Golgi membrane, Golgi lumen
Carbohydrate sulfotransferase 3 (CHST3 also known as C6ST-1) catalyzes the transfer of sulfate (SO4(2-)) from PAPS to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin-containing proteins resulting in chondroitin sulfate (C6S-PG), a major component of cartilage. Defects in CHST3 result in undersulfated CS, weakening cartilage structures and causing spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD; MIM:143095). Mutations causing SEDC-JD include R304Q, L259P, R222W, L307P, Y201*, E372K and L286P (Thiele et al. 2004, Hermanns et al. 2008, Unger et al. 2010, van Roij et al. 2008).

CHST3,7 transfer SO4(2-) to position 6 of GalNAc on chondroitin chains

Identifier: R-HSA-2018682
Species: Homo sapiens
Compartment: Golgi membrane, Golgi lumen
Carbohydrate sulfotransferase 3 (CHST3 also known as C6ST-1) catalyzes the transfer of sulfate (SO4(2-)) from PAPS to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin-containing proteins resulting in chondroitin sulfate (C6S-PG), a major component of cartilage. Defects in CHST3 result in undersulfated CS, weakening cartilage structures and causing spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD; MIM:143095). Mutations causing SEDC-JD include R304Q, L259P, R222W, L307P, Y201*, E372K and L286P (Thiele et al. 2004, Hermanns et al. 2008, Unger et al. 2010, van Roij et al. 2008).

Icon (1 results from a total of 1)

CHST3

Species: Homo sapiens
Curator: Bijay Jassal
Designer: Cristoffer Sevilla
CHST3 icon
Carbohydrate sulfotransferase 3.
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