Homo sapiens Gene: CHST3
Summary
InnateDB Gene IDBG-77785.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHST3
Gene Name carbohydrate (chondroitin 6) sulfotransferase 3
Synonyms C6ST; C6ST1; HSD
Species Homo sapiens
Ensembl Gene ENSG00000122863
Encoded Proteins
carbohydrate (chondroitin 6) sulfotransferase 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:71964365-72013564
Strand Forward strand
Band q22.1
Transcripts
ENST00000373115 ENSP00000362207
Interactions
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
Gene Ontology

Molecular Function
Accession GO Term
GO:0008146 sulfotransferase activity
GO:0008459 chondroitin 6-sulfotransferase activity
GO:0050698 proteoglycan sulfotransferase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006790 sulfur compound metabolic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0043029 T cell homeostasis
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Chondroitin sulfate biosynthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt Q7LGC8
TrEMBL
UniProt Splice Variant
Entrez Gene 9469
UniGene Hs.158304
RefSeq NM_004273 XM_006718075
HUGO HGNC:1971
OMIM 603799
CCDS CCDS7312
HPRD
IMGT
EMBL AB012192 AB017915 BC093690 BC104856
GenPept AAH93690 AAI04857 BAA32576 BAA36348
RNA Seq Atlas 9469