RXYLT1 (ribitol xylosyltransferase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10329
Gene name Gene Name - the full gene name approved by the HGNC.
Ribitol xylosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RXYLT1
Synonyms (NCBI Gene) Gene synonyms aliases
HP10481, MDDGA10, TMEM5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDDGA10
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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. [
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs73122634 C>T Benign-likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs141095352 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant
rs397514543 G>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs397514546 A>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs397514696 G>- Pathogenic Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, upstream transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0005794 Component Golgi apparatus IDA 25279699
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605862 13530 ENSG00000118600
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y2B1
Protein name Ribitol-5-phosphate xylosyltransferase 1 (EC 2.4.2.61) (Transmembrane protein 5) (UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase)
Protein function 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 (Probable) (PubMed:27733679, PubMed:29477
Family and domains
Sequence 
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQST
LESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGL
LDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQW
LLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVF
QWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWV
SAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAG
NCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQH
FKTELKMKFTNILESSFLMNNKS
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Mannose type O-glycan biosynthesis
Metabolic pathways 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (21)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 rs119463990, rs587777813, rs398123555, rs119463996, rs587777748, rs119463991, rs119463992, rs119464997, rs267606814, rs119463989, rs533916138, rs587777815, rs200198778, rs267606969, rs267606963
View all (138 more)		 27212206, 23519211, 23217329, 27733679, 27130732
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar
Muscle Eye Brain Disease muscle-eye-brain disease GenCC
Cleft Lip With Or Without Cleft Palate Cleft Lip With Or Without Cleft Palate GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Brain Diseases Associate 27212206
Cobblestone Lissencephaly Associate 23217329
Cochlear Diseases Associate 27212206
Craniometaphyseal Dysplasia Autosomal Dominant Associate 27212206
Gonadal Dysgenesis Associate 23217329
Intellectual Disability Associate 27212206
Muscular Dystrophies Limb Girdle Associate 27212206
Neural Tube Defects Associate 23217329
Polymicrogyria Associate 27212206
Walker Warburg Syndrome Associate 27212206, 27733679, 36007194