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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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)
Annotation
- Keyword
-
- Alternative splicing
- Coiled coil
- Disease variant
- Dwarfism
- Glycoprotein
- Golgi apparatus
- Metal-binding
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8TDX6 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| heparin biosynthetic process | ||
| UDP-N-acetylgalactosamine metabolic process |
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
biosynthetic process [inference]
cellular metabolic process [inference]
primary metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi cisterna membrane | ||
| Golgi membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetylgalactosaminyltransferase activity | ||
| glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | ||
| glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | ||
| metal ion binding | ||
| peptidoglycan glycosyltransferase activity |
GlycoGene Database (GGDB)
- GGDB ID
- gg165
- Gene Symbol
-
- CSGALNACT1
- Reactions
G14371GV
G40609EP
G40723NG
G97081WO
G76533UX
G70907ST
G33235EO
G48258CR
G07747BZ
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | XP_224757 | XM_224757 |
| Drosophila melanogaster | NP_610567 | NM_136723 |
| Mus musculus | NP_766341 | NM_172753 |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
- The Human Phenotype Ontology
| 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 |
| Disease ID | Disease Name |
|---|---|
| OMIM:618870 |
|
| ORPHA:1425 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 108526479 | RHIBE08360 | ||
| 104662459 | RHIRO27410 | ||
| 100583001 | NOMLE28161 | ||
| 111564820 | AMPOC02833 | ||
| 106824857 | EQUAS26078 | ||
| 116834478 | CHEAB18696 | ||
| 109527907 | HIPCM17541 | ||
| 105300712 | PTEVA13318 | ||
| 115052315 | ECHNA50877 | ||
| 115382539 | SALFA13752 |
