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Literature summary for 2.4.1.174 extracted from

  • Vodopiutz, J.; Mizumoto, S.; Lausch, E.; Rossi, A.; Unger, S.; Janocha, N.; Costantini, R.; Seidl, R.; Greber-Platzer, S.; Yamada, S.; Mueller, T.; Jilma, B.; Ganger, R.; Superti-Furga, A.; Ikegawa, S.; Sugahara, K.; Janecke, A.R.
    Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) deficiency results in a mild skeletal dysplasia and joint laxity (2017), Hum. Mutat., 38, 34-38 .
    View publication on PubMed
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Cloned(Commentary)

Cloned (Comment) Organism
gene CSGalNAcT1, recombinant expression of wild-type and mutant FLAG-tagged CSGalNAcT-1 enzymes in COS-7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information bi-allelic loss-of-function mutations in CSGALNACT1 produce a skeletal dysplasia reminiscent of the skeletal dysplasia of Csgalnact1-/- mice, and adds to the genetic heterogeneity of Desbuquois dysplasia (DD) Homo sapiens
P384R site-directed mutagenesis, almost inactive mutant Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
UDP-N-acetyl-D-galactosamine + beta-D-glucuronyl-(1->3)-D-galactosyl-proteoglycan Homo sapiens
-
 UDP + N-acetyl-D-galactosaminyl-(1->4)-beta-D-glucuronyl-(1->3)-beta-D-galactosyl-proteoglycan
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q8TDX6
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-N-acetyl-D-galactosamine + beta-D-glucuronyl-(1->3)-D-galactosyl-proteoglycan
-
 Homo sapiens UDP + N-acetyl-D-galactosaminyl-(1->4)-beta-D-glucuronyl-(1->3)-beta-D-galactosyl-proteoglycan
-
 ?

Synonyms

Synonyms Comment Organism
ChGn-1
-
 Homo sapiens
chondroitin sulfate N-acetylgalactosaminyltransferase-1
-
 Homo sapiens
CSGalNAcT-1
-
 Homo sapiens
CSGalNAcT1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) deficiency results in a mild skeletal dysplasia and joint laxity Homo sapiens
metabolism CSGalNAcT-1 plays a role in chondroitin sulfate and dermatan sulfate synthesis Homo sapiens
physiological function CSGALNACT1 encodes chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1, ChGn-1), which initiates chondroitin sulfate (CS) chain biosynthesis on the so-called GAG-protein linker region tetrasaccharide Homo sapiens