InnateDB Protein
|
IDBP-77787.4
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
CHST3
|
Protein Name
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
Synonyms
|
C6ST; C6ST1; HSD;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000362207
|
InnateDB Gene
|
IDBG-77785 (CHST3)
|
Protein Structure
|
|
Function |
Sulfotransferase 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:0000269PubMed:9714738, ECO:0000269PubMed:9883891}.
|
Subcellular Localization |
Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
|
Disease Associations |
Spondyloepiphyseal 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.
|
Tissue Specificity |
Widely 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:0000269PubMed:9714738}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0008146
|
sulfotransferase activity
|
GO:0008459
|
chondroitin 6-sulfotransferase activity
|
GO:0050698
|
proteoglycan sulfotransferase activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000863
Sulfotransferase domain
IPR016469
Carbohydrate sulfotransferase
IPR027417
P-loop containing nucleoside triphosphate hydrolase
|
PFAM |
PF00685
|
PRINTS |
|
PIRSF |
PIRSF005883
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q7LGC8
|
PhosphoSite |
PhosphoSite-Q7LGC8
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
9469
|
UniGene |
Hs.158304
|
RefSeq |
NP_004264
|
HUGO |
HGNC:1971
|
OMIM |
603799
|
CCDS |
CCDS7312
|
HPRD |
07052
|
IMGT |
|
EMBL |
AB012192
AB017915
BC093690
BC104856
|
GenPept |
AAH93690
AAI04857
BAA32576
BAA36348
|
|
|