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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ribitol xylosyltransferase 1 | MIM:605862 | Ensembl:ENSG00000118600 | HGNC:HGNC:13530 | PA37796 | 12q14.2 |
GO terms in RXYLT1
| 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 |
| MF | IDA | GO:0120053 | ribitol beta-1,4-xylosyltransferase activity |
| MF | TAS | GO:0120053 | ribitol beta-1,4-xylosyltransferase activity |
Gene expression in normal tissue: RXYLT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RXYLT1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00515 | Mannose type O-glycan biosynthesis - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RXYLT1
CLASSFICATION
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