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Literature summary for 2.8.2.17 extracted from

  • van Roij, M.H.; Mizumoto, S.; Yamada, S.; Morgan, T.; Tan-Sindhunata, M.B.; Meijers-Heijboer, H.; Verbeke, J.I.; Markie, D.; Sugahara, K.; Robertson, S.P.
    Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype (2008), Am. J. Med. Genet. A, 146A, 2376-2384.
    View publication on PubMed
Search for more literature for 2.8.2.17

Cloned(Commentary)

Cloned (Comment) Organism
gene CHST3, expression of wild-type enzyme and mutant L286P in COS-7 cells as soluble FLAG-tagged proteins Homo sapiens

Protein Variants

Protein Variants Comment Organism
L286P naturally occuring mutation of gene CHST3 causing the Spondyloepiphyseal dysplasia Omani type, almost inactive mutant, phenotype, overview Homo sapiens
R304Q naturally occuring mutation of gene CHST3 causing the Spondyloepiphyseal dysplasia Omani type, phenotype, overview Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3'-phosphoadenylyl sulfate + chondroitin Homo sapiens
-
 adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate
-
 ?
additional information Homo sapiens the enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate, in the extracellular matrix of cartilage ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q7LGC8 gene CHST3
-

Source Tissue

Source Tissue Comment Organism Textmining
cartilage
-
 Homo sapiens
-
fibroblast
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
-
 Homo sapiens
0.0000005 0.0000011 wild-type activity in fibroblasts Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3'-phosphoadenylyl sulfate + chondroitin
-
 Homo sapiens adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate
-
 ?
additional information the enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate, in the extracellular matrix of cartilage Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
C6ST-1
-
 Homo sapiens
chondroitin 6-O-sulfotransferase-1
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
6.8
-
 assay at Homo sapiens