InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHST8

Summary

InnateDB Protein

IDBP-42753.5

Last Modified

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

Gene Symbol

CHST8

Protein Name

carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000262622

InnateDB Gene

IDBG-42751 (CHST8)

Protein Structure

UniProt Annotation

Function

Catalyzes the transfer of sulfate to position 4 of non- reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Only active against terminal GalNAcbeta1,GalNAcbeta. Not active toward chondroitin. {ECO:0000269PubMed:10988300, ECO:0000269PubMed:11445554}.

Subcellular Localization

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

Disease Associations

Note=CHST8 mutations may be a cause of generalized non- inflammatory peeling skin syndrome type A (PubMed:22289416). Peeling skin syndrome (PSS) is a genodermatosis characterized by continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. {ECO:0000269PubMed:22289416}.

Tissue Specificity

Predominantly expressed in pituitary gland. In brain, it is expressed in pituitary gland, cerebellum, medulla oblongata, pons, thalamus and spinal cord. Expressed in the epidermis. Expressed at lower level in lung, spleen, adrenal gland, placenta, prostate, testis, mammary gland and trachea. {ECO:0000269PubMed:10988300, ECO:0000269PubMed:11001942, ECO:0000269PubMed:11445554, ECO:0000269PubMed:22289416}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001537	N-acetylgalactosamine 4-O-sulfotransferase activity
GO:0008146	sulfotransferase activity

Biological Process

GO:0006790	sulfur compound metabolic process
GO:0007417	central nervous system development
GO:0016051	carbohydrate biosynthetic process
GO:0030166	proteoglycan biosynthetic process
GO:0042446	hormone biosynthetic process