RXYLT1 - ribitol xylosyltransferase 1 Gene
Also Known as TMEM5; HP10481; MDDGA10
Species: Homo sapiens (human)
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]
RXYLT1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| XM_047428078.1 | XP_047284034.1 | ribitol-5-phosphate xylosyltransferase 1 isoform X1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27601598 | GOA |
| enables ribitol beta-1,4-xylosyltransferase activity |
IDA
IDA: Inferred from direct assay
|
27733679 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in protein O-linked mannosylation |
IDA
IDA: Inferred from direct assay
|
27130732 | GOA |
| involved in protein O-linked mannosylation |
IMP
IMP: Inferred from mutant phenotype
|
25279699 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
25279699 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ribitol-5-phosphate xylosyltransferase 1 |
|
|
RXYLT1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
RXYLT1 | Q9Y2B1 | FKTN | Homo sapiens | O75072 | 28514442 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | FKTN | Homo sapiens | O75072 | 29477842 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | FKTN | Homo sapiens | O75072 | 33961781 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | POMGNT1 | Homo sapiens | Q8WZA1 | 33961781 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | POMGNT1 | Homo sapiens | Q8WZA1 | 28514442 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
RXYLT1 | Q9Y2B1 | WFS1 | Homo sapiens | O76024 | 32814053 |