InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHST14

Summary

InnateDB Protein

IDBP-6375.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHST14

Protein Name

carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000307297

InnateDB Gene

IDBG-6373 (CHST14)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:19661164}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.

Disease Associations

Ehlers-Danlos syndrome, musculocontractural type 1 (EDSMC1) [MIM:601776]: 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. {ECO:0000269PubMed:20004762, ECO:0000269PubMed:20533528, ECO:0000269PubMed:20842734}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid. {ECO:0000269PubMed:11470797}.

Comments

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