RXYLT1
entrez
10329
canonical
uniprot
Q9Y2B1
canonical
ensembl
ENSG00000118600
resolver
ensp
ENSP00000261234
resolver
ensp
ENSP00000508435
resolver
enst
ENST00000261234
resolver
enst
ENST00000690060
resolver
genesymbol
RXYLT1
resolver
genesymbol_syn
TMEM5
resolver
hgnc
HGNC:13530
resolver
uniprot
A0A8I5KWX9
resolver
uniprot
A8K017
resolver
uniprot
Q6PKD6
resolver
uniprot_entry
A0A8I5KWX9_HUMAN
resolver
uniprot_entry
RXLT1_HUMAN
resolver
uniprot_sec
A8K017
resolver
uniprot_sec
Q6PKD6
resolver
amino_acid_sequence
MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQSTLESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRNGGFVELLFIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENSSRQALMNILKKDGNDKLCWVSAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSIPVVEDVMTAGNCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQHFKTELKMKFTNILESSFLMNNKS
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10) [MIM:615041]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:23217329, ECO:0000269|PubMed:23519211, ECO:0000269|PubMed:27130732, ECO:0000269|PubMed:27212206, ECO:0000269|PubMed:27733679}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.2.61
uniprot
proteins
function
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:29477842). Participates 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 (Probable) (PubMed:25279699, PubMed:27601598, PubMed:27733679). {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:27601598, ECO:0000269|PubMed:27733679, ECO:0000269|PubMed:29477842, ECO:0000305|PubMed:27130732}.
uniprot
proteins
mass_dalton
51146
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:27130732, ECO:0000269|PubMed:27733679, ECO:0000269|PubMed:29477842}.
uniprot
proteins
protein_family
RXYLT1 family
uniprot
proteins
pubmed
10072769
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23217329
uniprot
proteins
pubmed
23519211
uniprot
proteins
pubmed
25279699
uniprot
proteins
pubmed
27130732
uniprot
proteins
pubmed
27212206
uniprot
proteins
pubmed
27601598
uniprot
proteins
pubmed
27733679
uniprot
proteins
pubmed
29477842
uniprot
proteins
sequence_length
443
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:25279699, ECO:0000269|PubMed:29477842}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..30; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins