RXYLT1 - ribitol xylosyltransferase 1 Gene

Also Known as TMEM5; HP10481; MDDGA10

Species: Homo sapiens (human)

Gene Type: protein coding
Gene ID: 10329

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 Références 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 Références 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 Références Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
25279699 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ribitol-5-phosphate xylosyltransferase 1

  • UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase

  • transmembrane protein 5

  • type II membrane protein

RXYLT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
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
Cross: Cross-species interaction Intra: Intraspecies interaction