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 |
|
||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Dermatan 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.442449 | ||||||||||||||||||
RefSeq | NM_130468 | ||||||||||||||||||
HUGO | |||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS10059 | ||||||||||||||||||
HPRD | 16780 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||