InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHSY1

Summary

InnateDB Protein

IDBP-32340.6

Last Modified

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

Gene Symbol

CHSY1

Protein Name

chondroitin sulfate synthase 1

Synonyms

CHSY; ChSy-1; CSS1; TPBS;

Species

Homo sapiens

Ensembl Protein

ENSP00000254190

InnateDB Gene

IDBG-32338 (CHSY1)

Protein Structure

UniProt Annotation

Function

Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. {ECO:0000269PubMed:11514575, ECO:0000269PubMed:21129727}.

Subcellular Localization

Golgi apparatus, Golgi stack membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Secreted.

Disease Associations

Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]: A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. {ECO:0000269PubMed:21129727, ECO:0000269PubMed:21129728}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocytes. {ECO:0000269PubMed:11514575, ECO:0000269PubMed:12907687}.

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	0
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008376	acetylgalactosaminyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0046872	metal ion binding
GO:0047238	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
GO:0050510	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0030206	chondroitin sulfate biosynthetic process
GO:0030279	negative regulation of ossification
GO:0031667	response to nutrient levels
GO:0044281	small molecule metabolic process