Entry
Name
alpha-dystroglycan beta1,4-xylosyltransferase;
TMEM5 (gene name)
Class
Transferases;
Glycosyltransferases;
Pentosyltransferases
BRITE hierarchy
Sysname
UDP-alpha-D-xylose:3-O-[Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein] xylosyltransferase
Reaction(IUBMB)
UDP-alpha-D-xylose + 3-O-[Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein] = UDP + 3-O-[beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein] [RN:
R12244 ]
Reaction(KEGG)
Substrate
UDP-alpha-D-xylose [CPD:
C00190 ];
3-O-[Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein] [GL:
G13094 ]
Product
UDP [CPD:
C00015 ];
3-O-[beta-D-Xyl-(1->4)-Rib-ol-P-Rib-ol-P-3-beta-D-GalNAc-(1->3)-beta-D-GlcNAc-(1->4)-O-6-P-alpha-D-Man]-Ser/Thr-[protein] [GL:
G13095 ]
Comment
This eukaryotic enzyme catalyses a step in the biosynthesis of the glycan moiety of the membrane protein alpha-dystroglycan. It is specific for the second ribitol 5-phosphate in the nascent glycan chain as acceptor.
History
EC 2.4.2.61 created 2018
Pathway
ec00515 Mannose type O-glycan biosynthesis
Orthology
K21052 alpha-dystroglycan beta1,4-xylosyltransferase
Genes
MUN : 110541232(Rxylt1) 132648666 132648675
HGL : 101716790(Tmem5) 106007506
LALB : 132507032 132529310(RXYLT1)
PCAD : 102973659(RXYLT1) 102979593
PSIU : 116761140 116761329(RXYLT1)
MLF : 102427668(RXYLT1) 102441512
MJV : 108403882 108408066(RXYLT1)
PCW : 110203945 110204694 110211014(TMEM5)
ACS : 100560359 103278900(tmem5)
EMC : 129335968 129336015(RXYLT1)
SANH : 107670366(tmem5) 107684684
CCAR : 109110172(rxylt1) 109110391
CAUA : 113061550 113118230
CGIB : 127934261 127976937
ALIM : 106523189 106534997(tmem5)
STRU : 115152203(rxylt1) 115197402
CANU : 128159850 128160148
» show all
Taxonomy
Reference
Authors
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N
Title
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Journal
Sequence
Reference
Authors
Manya H, Yamaguchi Y, Kanagawa M, Kobayashi K, Tajiri M, Akasaka-Manya K, Kawakami H, Mizuno M, Wada Y, Toda T, Endo T
Title
The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol beta1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.
Journal
Sequence
Other DBs
ExplorEnz - The Enzyme Database: 2.4.2.61
ExPASy - ENZYME nomenclature database: 2.4.2.61