Homo sapiens Gene: CHST12
Summary
InnateDB Gene IDBG-6957.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHST12
Gene Name carbohydrate (chondroitin 4) sulfotransferase 12
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000136213
Encoded Proteins
carbohydrate (chondroitin 4) sulfotransferase 12
carbohydrate (chondroitin 4) sulfotransferase 12
carbohydrate (chondroitin 4) sulfotransferase 12
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:2403560-2434607
Strand Forward strand
Band p22.3
Transcripts
ENST00000258711 ENSP00000258711
ENST00000432336 ENSP00000411207
ENST00000618655 ENSP00000481912
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 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008146 sulfotransferase activity
GO:0047756 chondroitin 4-sulfotransferase activity
GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0016051 carbohydrate biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0030208 dermatan sulfate biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi 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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.213088 Hs.743584
RefSeq NM_001243794 NM_001243795 NM_018641
HUGO
OMIM
CCDS CCDS5333
HPRD 13056
IMGT
EMBL
GenPept
RNA Seq Atlas