Homo sapiens Gene: CHST14
Summary
InnateDB Gene IDBG-6373.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHST14
Gene Name carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000169105
Encoded Proteins
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:40470998-40474571
Strand Forward strand
Band q15.1
Transcripts
ENST00000306243 ENSP00000307297
ENST00000559991 ENSP00000453882
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001537 N-acetylgalactosamine 4-O-sulfotransferase activity
GO:0005515 protein binding
GO:0008146 sulfotransferase activity
GO:0042301 phosphate ion 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:0030208 dermatan sulfate biosynthetic process
GO:0044281 small molecule metabolic process
GO:0050655 dermatan sulfate proteoglycan metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
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
Dermatan sulfate biosynthesis 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 BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.442449
RefSeq NM_130468
HUGO
OMIM
CCDS CCDS10059
HPRD 16780
IMGT
EMBL
GenPept
RNA Seq Atlas