• Gene id: 10329

Gene Summary

• Gene Symbol: RXYLT1   Gene   UCSC   Ensembl
• Aliases: HP10481, MDDGA10, TMEM5
• Gene name: ribitol xylosyltransferase 1
• Alternate names: ribitol-5-phosphate xylosyltransferase 1, UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, transmembrane protein 5, type II membrane protein,
• Gene location: 12q14.2 (63779830: 63809561)     Exons: 8     NC_000012.12
• Gene summary(Entrez): 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. [
• OMIM: 605862

Protein Summary

• Protein general information: Q9Y2B1  
  • Name: Ribitol 5 phosphate xylosyltransferase 1 (EC 2.4.2. ) (Transmembrane protein 5) (UDP D xylose:ribitol 5 phosphate beta1,4 xylosyltransferase)
  • Length: 443  
  • Mass: 51146
• Sequence:

  MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQSTLESEEWNPWEGDEKN
  EQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRTQYSFITGPAV
  IPGYFSVDVNNVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELL
  FIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWV
  SAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAGNCGNTSVHHGAPLQL
  LKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQHFKTELKMKFTNILESSFLMNNKS

• Structural information:
  • STRING: ENSP00000261234
• Other Databases: GeneCards:  RXYLT1  Malacards:  RXYLT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0120053	ribitol beta-1,4-xylosyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0120053	ribitol beta-1,4-xylosyltransferase activity	IDA	molecular function
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0120053	ribitol beta-1,4-xylosyltransferase activity	TAS	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881