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MGP003915

UniProt Annotations

Entry Information
Gene Namecarbohydrate (chondroitin 6) sulfotransferase 3
Protein EntryCHST3_HUMAN
UniProt IDQ7LGC8
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate.
DiseaseSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]: A bone dysplasia clinically characterized by dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The disorder is usually evident at birth, with short stature and multiple joint dislocations or subluxations that dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disk degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Can also sulfate Gal residues of keratan sulfate, another glycosaminoglycan, and the Gal residues in sialyl N- acetyllactosamine (sialyl LacNAc) oligosaccharides. May play a role in the maintenance of naive T-lymphocytes in the spleen. {ECO:0000269|PubMed:9714738, ECO:0000269|PubMed:9883891}.
SimilarityBelongs to the sulfotransferase 1 family. Gal/GlcNAc/GalNAc subfamily. {ECO:0000305}.
Subcellular LocationGolgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
Tissue SpecificityWidely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix. {ECO:0000269|PubMed:9714738}.
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=CHST3";
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