chondroitin sulfate N-acetylgalactosaminyltransferase 1

Summary
Gene Symbol
  • CSGALNACT1
Aliases
  • CSGalNAcT-1
  • ChGn
  • FLJ11264
  • chondroitin beta1,4 N-acetylgalactosaminyltransferase
  • glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
55790
GGDB ID
HGNC
24290
mRNA
map
  • 8p21.3
Protein
OMIM
KEGG Gene ID
hsa:55790
PubChem
55790
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Coiled coil
  • Disease variant
  • Dwarfism
  • Glycoprotein
  • Golgi apparatus
  • Metal-binding
  • Reference proteome
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8TDX6
  • Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1
Gene Ontology (GO)
Displaying entries 11 - 12 of 12 in total
GO Term Evidence Code PMID
heparin biosynthetic process
UDP-N-acetylgalactosamine metabolic process
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg165
Gene Symbol
  • CSGALNACT1
Reactions
Displaying all 5 entries
Donor Acceptor Product Reference
UDP-GalNAc
G14371GV
G40609EP
UDP-GalNAc
G40723NG
G97081WO
UDP-GalNAc
G76533UX
G70907ST
UDP-GalNAc
G33235EO
UDP-GalNAc
G48258CR
G07747BZ
Orthologous Gene
KEGG BRITE Database
Orthology
K00746
Name
chondroitin sulfate N-acetylgalactosaminyltransferase 1/2 [EC:2.4.1.174 2.4.1.175]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05929
Disease
Disease Ontology
Displaying entries 21 - 30 of 37 in total
DO ID Disease Name Source
DOID:0110761 type 1 diabetes mellitus 24
DOID:12842 Guillain-Barre syndrome
DOID:12889 Miller Fisher syndrome
DOID:1520 colon carcinoma
DOID:1612 breast cancer
DOID:1837 diabetic ketoacidosis
DOID:1909 melanoma
DOID:219 colon cancer
DOID:235 colonic benign neoplasm
DOID:2377 multiple sclerosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 69 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000256 Macrocephaly
HP:0000308 Microretrognathia
HP:0000311 Round face
HP:0000343 Long philtrum
HP:0000368 Low-set, posteriorly rotated ears
HP:0000444 Convex nasal ridge
HP:0000463 Anteverted nares
HP:0000470 Short neck
HP:0000494 Downslanted palpebral fissures
Displaying all 2 entries
Disease ID Disease Name
OMIM:618870
  • skeletal dysplasia, mild, with joint laxity and advanced bone age
ORPHA:1425
  • Desbuquois dysplasia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024