RXYLT1 - ribitol xylosyltransferase 1 Gene

Homo sapiens (human)

Also known as TMEM5; HP10481; MDDGA10

Gene ID: 10329 | Gene type: protein coding

About 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]

RXYLT1 Products(1)

mRNA	Protein	Name
XM_047428078.1	XP_047284034.1	ribitol-5-phosphate xylosyltransferase 1 isoform X1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RXYLT1	Q9Y2B1	FKTN	Homo sapiens	O75072	Anti Tag CoIP	28514442
Intra	RXYLT1	Q9Y2B1	FKTN	Homo sapiens	O75072	Anti Tag CoIP	29477842
Intra	RXYLT1	Q9Y2B1	FKTN	Homo sapiens	O75072	Anti Tag CoIP	33961781
Intra	RXYLT1	Q9Y2B1	POMGNT1	Homo sapiens	Q8WZA1	Anti Tag CoIP	33961781
Intra	RXYLT1	Q9Y2B1	POMGNT1	Homo sapiens	Q8WZA1	Anti Tag CoIP	28514442
Intra	RXYLT1	Q9Y2B1	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	RXYLT1	Q9Y2B1	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	RXYLT1	Q9Y2B1	WFS1	Homo sapiens	O76024	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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