NP_569735.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
carbohydrate sulfotransferase 14
NCBI Official Synonym Full Names
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
NCBI Protein Information
carbohydrate sulfotransferase 14; dermatan 4 sulfotransferase 1
UniProt Protein Name
Carbohydrate sulfotransferase 14
UniProt Synonym Protein Names
Dermatan 4-sulfotransferase 1
UniProt Synonym Gene Names
UniProt Entry Name
CHSTE_HUMAN
NCBI Summary for CHST14
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]
UniProt Comments for CHST14
CHST14: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. GlcUA to IdoUA. Appears to have an important role in the formation of the cerbellar neural network during postnatal brain development. Defects in CHST14 are the cause of Ehlers-Danlos syndrome musculocontractural type (EDSMC). It is 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. Belongs to the sulfotransferase 2 family.
Protein type: Glycan Metabolism - chondroitin sulfate biosynthesis; Transferase; Membrane protein, integral; EC 2.8.2.35
Chromosomal Location of Human Ortholog: 15q15.1
Cellular Component: Golgi membrane; integral to membrane
Molecular Function: N-acetylgalactosamine 4-O-sulfotransferase activity; phosphate binding
Biological Process: chondroitin sulfate metabolic process; glycosaminoglycan metabolic process; dermatan sulfate proteoglycan metabolic process; carbohydrate metabolic process; pathogenesis; carbohydrate biosynthetic process; dermatan sulfate biosynthetic process
Disease: Ehlers-danlos Syndrome, Musculocontractural Type 1
Research Articles on CHST14
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Products associated with anti-CHST14 antibody
Pathways associated with anti-CHST14 antibody
Diseases associated with anti-CHST14 antibody
Organs/Tissues associated with anti-CHST14 antibody
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