MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP004527

UniProt Annotations

Entry Information
Gene Namechondroitin sulfate synthase 1
Protein EntryCHSS1_HUMAN
UniProt IDQ86X52
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityUDP-alpha-D-glucuronate + N-acetyl-beta-D- galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan.
Catalytic ActivityUDP-N-acetyl-alpha-D-galactosamine + beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl- (1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan.
CofactorName=Co(2+); Xref=ChEBI:CHEBI:48828; Evidence={ECO:0000269|PubMed:12907687}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000269|PubMed:12907687}; Name=Cd(2+); Xref=ChEBI:CHEBI:48775; Evidence={ECO:0000269|PubMed:12907687}; Note=Divalent metal cations. Highest activities are measured with Co(2+), Mn(2+) and Cd(2+). {ECO:0000269|PubMed:12907687};
DiseaseTemtamy 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:0000269|PubMed:21129727, ECO:0000269|PubMed:21129728}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHas 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:0000269|PubMed:11514575, ECO:0000269|PubMed:21129727}.
Sequence CautionSequence=BAA76834.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the chondroitin N- acetylgalactosaminyltransferase family. {ECO:0000305}.
Subcellular LocationGolgi apparatus, Golgi stack membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Secreted.
SubunitBinds CHPF.
Tissue SpecificityUbiquitous, 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:0000269|PubMed:11514575, ECO:0000269|PubMed:12907687}.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=Chondroitin sulfate synthase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_445";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=CHSY1";
  logo