Entity Details

Primary name CHST14
Entity type gene
Source Source Link

Details

PrimaryID113189
RefseqGeneNG_017074
SymbolCHST14
Namecarbohydrate sulfotransferase 14
Chromosome15
Location15q15.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-08-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCHSTE_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001537 N-acetylgalactosamine 4-O-sulfotransferase activity
GO:0008146 sulfotransferase activity
GO:0016021 integral component of membrane
GO:0016051 carbohydrate biosynthetic process
GO:0030208 dermatan sulfate biosynthetic process
GO:0042301 phosphate ion binding
GO:0050655 dermatan sulfate proteoglycan metabolic process
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
601776 OMIMEhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
CHST14PTCH1BioGRID, IntAct26186194 28514442 details
CHST14GOLGA5BioGRID, IntAct28514442 details
CHST14POTEEBioGRID, IntAct28514442 details
CHST14FUT11BioGRID, IntAct28514442 details
CHST14CANXBioGRID, IntAct28514442 details
CHST14LMBR1LBioGRID31073040 details