CSGALNACT1
Summary: This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| chondroitin sulfate N-acetylgalactosaminyltransferase 1 | MIM:616615 | Ensembl:ENSG00000147408 | HGNC:HGNC:24290 | PA162382829 | 8p21.3 |
GO terms in CSGALNACT1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0008376 | acetylgalactosaminyltransferase activity |
| MF | ISS | GO:0008376 | acetylgalactosaminyltransferase activity |
| MF | IDA | GO:0008955 | peptidoglycan glycosyltransferase activity |
| MF | IDA | GO:0015020 | glucuronosyltransferase activity |
| MF | NAS | GO:0046872 | metal ion binding |
| MF | IDA | GO:0047237 | glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity |
| MF | IDA | GO:0047238 | glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity |
| MF | TAS | GO:0047238 | glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity |
| BP | IEA | GO:0001958 | endochondral ossification |
| BP | NAS | GO:0007399 | nervous system development |
| BP | NAS | GO:0008037 | cell recognition |
| BP | NAS | GO:0008283 | cell proliferation |
| BP | NAS | GO:0009653 | anatomical structure morphogenesis |
| BP | NAS | GO:0015014 | heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
| BP | IDA | GO:0019276 | UDP-N-acetylgalactosamine metabolic process |
| BP | ISS | GO:0030166 | proteoglycan biosynthetic process |
| BP | NAS | GO:0030198 | extracellular matrix organization |
| BP | IDA | GO:0030206 | chondroitin sulfate biosynthetic process |
| BP | TAS | GO:0030206 | chondroitin sulfate biosynthetic process |
| BP | NAS | GO:0030210 | heparin biosynthetic process |
| BP | IDA | GO:0046398 | UDP-glucuronate metabolic process |
| BP | ISS | GO:0050650 | chondroitin sulfate proteoglycan biosynthetic process |
| BP | ISS | GO:0050651 | dermatan sulfate proteoglycan biosynthetic process |
| BP | IDA | GO:0050653 | chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
| BP | IEA | GO:0051216 | cartilage development |
| CC | TAS | GO:0000139 | Golgi membrane |
| CC | IC | GO:0005622 | intracellular |
| CC | NAS | GO:0030173 | integral component of Golgi membrane |
| CC | IEA | GO:0032580 | Golgi cisterna membrane |
Gene expression in normal tissue: CSGALNACT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CSGALNACT1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
| reactome | R-HSA-2022870 | Chondroitin sulfate biosynthesis |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| kegg | hsa00532 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate - Homo sapiens (human) |
| humancyc | PWY-6566 | chondroitin and dermatan biosynthesis |
| humancyc | PWY-6567 | chondroitin sulfate biosynthesis (late stages) |
| humancyc | PWY-6569 | chondroitin sulfate biosynthesis |
| humancyc | PWY-6571 | dermatan sulfate biosynthesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CSGALNACT1
CLASSFICATION
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