Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10329
MIM: 605862
HGNC: 13530
Ensembl: ENSG00000118600
Variants:
dbSNP: 10329
ClinVar: 10329
TCGA: ENSG00000118600
COSMIC: RXYLT1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000118600 | ENST00000261234 | Q9Y2B1 |
| ENSG00000118600 | ENST00000537373 | G3V1K2 |
| ENSG00000118600 | ENST00000543342 | F5GXF8 |
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolic pathways | KEGG | hsa01100 |
| Mannose type O-glycan biosynthesis | KEGG | ko00515 |
| Mannose type O-glycan biosynthesis | KEGG | hsa00515 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36007194 | 2024 | RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS. | 0 |
| 36007194 | 2024 | RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS. | 0 |
| 29477842 | 2018 | Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. | 5 |
| 29477842 | 2018 | Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. | 5 |
| 27130732 | 2016 | The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. | 66 |
| 27733679 | 2016 | The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. | 34 |
| 27130732 | 2016 | The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. | 66 |
| 27733679 | 2016 | The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. | 34 |
| 23217329 | 2012 | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. | 65 |
| 23217329 | 2012 | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. | 65 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
RXYLT1 (ribitol xylosyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/80361/rxylt1-(ribitol-xylosyltransferase-1)
