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IUBMB Comments This eukaryotic enzyme catalyses a step in the biosynthesis of the glycan moiety of the membrane protein α-dystroglycan. It is specific for the second ribitol 5-phosphate in the nascent glycan chain as acceptor.
Reaction Schemes
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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]
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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]
Synonyms
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ribitol xylosyltransferase
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ribitol-5-phosphate xylosyltransferase 1
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transmembrane protein 5
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TMEM5
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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]
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MetaCyc
alpha-dystroglycan glycosylation
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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
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.
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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]
Substrates: -
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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]
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Substrates: -
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UDP-alpha-D-xylose + Rib-ol-P-Rib-ol-P-phospho-CoreM3 peptide
UDP + ?
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Substrates: -
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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]
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Substrates: -
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Cobblestone Lissencephaly
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Gonadal Dysgenesis
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Infections
Vpr counteracts the restriction of LAPTM5 to promote HIV-1 infection in macrophages.
Muscular Dystrophies
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Muscular Dystrophies
The functional O-mannose glycan on ?-dystroglycan contains a phospho-ribitol primed for matriglycan addition.
Muscular Dystrophies
The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol ?1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.
Neural Tube Defects
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Osteogenesis Imperfecta
Effect of immunosuppressants on a mouse model of osteogenesis imperfecta type V harboring a heterozygous Ifitm5 c.-14C?>?T mutation.
Osteogenesis Imperfecta
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.
Osteogenesis Imperfecta
Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report.
Walker-Warburg Syndrome
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.
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UniProt
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type II transmembrane protein
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Highest Expressing Human Cell Lines
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Cell Line Links
Gene Links
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malfunction
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enzyme defects cause Walker-Warburg syndrome
physiological function
TMEM5 is a xylosyltransferase that forms the Xyl-beta-1,4-ribitol 5-phosphate linkage on O-mannosyl glycan. Disruption of the TMEM5 gene abrogates the elongation of the (3-GlcA-beta-1,3-Xyl-alpha-1-) unit on O-mannosyl glycan
physiological function
TMEM5 mutations are frequently associated with gonadal dysgenesis and neural tube defects
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RXLT1_DANRE
434
1
50383
Swiss-Prot
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RXLT1_MOUSE
444
1
51386
Swiss-Prot
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RXLT1_HUMAN
443
1
51146
Swiss-Prot
other Location (Reliability: 1 )
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D355V
mutation identified in fetus with severe cobblestone lissencephaly
G94E
mutation identified in fetus with severe cobblestone lissencephaly
R266G
mutation identified in fetus with severe cobblestone lissencephaly
R340L
missense mutation found in an alpha-dystroglycanopathy patient, impairs xylosyltransferase activity
R340L
mutation identified in fetus with severe cobblestone lissencephaly
Y339C
missense mutation found in an alpha-dystroglycanopathy patient, impairs xylosyltransferase activity
Y339C
mutation identified in fetus with severe cobblestone lissencephaly
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expressed in HEK-293 cells
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medicine
gene defects of TMEM5 are involved in severe cobblestone lissencephaly type A
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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, J.P.; Loeuillet, L.; Gonzales, M.; Socha, K.; Grandchamp, B.; Atti-Bitach, T.; Encha-Razavi, F.; Seta, N.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
Am. J. Hum. Genet.
91
1135-1143
2012
Homo sapiens (Q9Y2B1)
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Manya, H.; Yamaguchi, Y.; Kanagawa, M.; Kobayashi, K.; Tajiri, M.; Akasaka-Manya, K.; Kawakami, H.; Mizuno, M.; Wada, Y.; Toda, T.; Endo, T.
The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xlosyltransferase required for the functional glycosylation of dystroglycan
J. Biol. Chem.
291
24618-24627
2016
Homo sapiens (Q9Y2B1), Homo sapiens
brenda
Nishihara, R.; Kobayashi, K.; Imae, R.; Tsumoto, H.; Manya, H.; Mizuno, M.; Kanagawa, M.; Endo, T.; Toda, T.
Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5
Biochem. Biophys. Res. Commun.
497
1025-1030
2018
Homo sapiens
brenda
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