RXYLT1
Summary: This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605862 Ensembl IDEnsembl:ENSG00000118600 HGNC IDHGNC:HGNC:13530 PHARMGKB IDPA37796 Map Location12q14.2 | |||||
GO terms in RXYLT1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0035269 | protein O-linked mannosylation |
| BP | IMP | GO:0035269 | protein O-linked mannosylation |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
Gene expression in normal tissue: RXYLT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RXYLT1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00515 | Mannose type O-glycan biosynthesis - Homo sapiens (human) |
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Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD409 | Saracatinib | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RXYLT1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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