UXS1
Summary: This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609749 Ensembl IDEnsembl:ENSG00000115652 HGNC IDHGNC:HGNC:17729 PHARMGKB IDPA38465 Map Location2q12.2 | |||||
GO terms in UXS1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0042803 | protein homodimerization activity |
| MF | IBA | GO:0048040 | UDP-glucuronate decarboxylase activity |
| MF | IDA | GO:0048040 | UDP-glucuronate decarboxylase activity |
| MF | IBA | GO:0070403 | NAD+ binding |
| MF | IDA | GO:0070403 | NAD+ binding |
| CC | IBA | GO:0005737 | cytoplasm |
Gene expression in normal tissue: UXS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in UXS1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00010 | Nucleotide Sugars Metabolism |
| smpdb | SMP00495 | Galactosemia II (GALK) |
| smpdb | SMP00496 | Galactosemia III |
| kegg | hsa00520 | Amino sugar and nucleotide sugar metabolism - Homo sapiens (human) |
| humancyc | PWY-4821 | UDP-D-xylose and UDP-D-glucuronate biosynthesis |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in UXS1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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