TMEM5

Gene Information
  • Official Symbol: RXYLT1
  • Official Name: ribitol xylosyltransferase 1
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 10329
  • UniProt: Q9Y2B1
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez 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].
  • UniProt Summary: UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N- acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate- 6-)mannose), a carbohydrate structure present in alpha- dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:27130732, PubMed:27733679, PubMed:27601598). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D- xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan (PubMed:27130732, PubMed:27733679). {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:27601598, ECO:0000269|PubMed:27733679, ECO:0000305|PubMed:27130732}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 18073
  • Expression level (log2 read counts): 4.7

Expression Distribution

  • Last modified: 2026/01/07 22:37
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