KEGG   ENZYME: 2.4.2.61Help
Entry
EC 2.4.2.61                 Enzyme                                 

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)
R12244(G)
Show
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
ec01100  Metabolic pathways
Orthology
K21052  alpha-dystroglycan beta1,4-xylosyltransferase
Genes
HSA: 10329(RXYLT1)
PTR: 452041(RXYLT1)
PPS: 100992813(TMEM5)
GGO: 101133488(TMEM5)
PON: 100460186(RXYLT1)
NLE: 100584744(TMEM5)
MCC: 717102(RXYLT1)
MCF: 102139236(TMEM5)
CSAB: 103238633(TMEM5)
RRO: 104664710 104680841(TMEM5)
RBB: 108530040(TMEM5)
CJC: 100396930(TMEM5)
SBQ: 101051694(TMEM5)
MMU: 216395(Rxylt1)
MCAL: 110303339(Tmem5)
MPAH: 110326592(Tmem5)
RNO: 299841(Tmem5)
CGE: 100757873(Rxylt1)
HGL: 101716790(Tmem5) 106007506
CCAN: 109688718(Tmem5) 109688719
OCU: 100345411(TMEM5)
TUP: 102496430(TMEM5)
CFA: 608152(TMEM5)
VVP: 112922312(RXYLT1)
UMR: 103656829(TMEM5)
UAH: 113256338(RXYLT1)
ORO: 101385557(TMEM5)
FCA: 101101235(TMEM5)
PTG: 102958532(TMEM5)
AJU: 106981335(RXYLT1)
BTA: 515147(RXYLT1)
BOM: 102280602(TMEM5)
BIU: 109559282(TMEM5)
BBUB: 102406645(RXYLT1)
PHD: 102338660(TMEM5)
CHX: 102188924(TMEM5)
OAS: 101112124(RXYLT1)
SSC: 100155789(TMEM5)
CFR: 102515986(TMEM5)
CDK: 105089266(TMEM5)
BACU: 103019229(TMEM5)
LVE: 103083549(TMEM5)
OOR: 101289176(TMEM5)
DLE: 111173799(TMEM5)
PCAD: 102973659(RXYLT1)
ECB: 100056566(RXYLT1)
EPZ: 103553856(TMEM5)
EAI: 106843751(TMEM5)
MYB: 102249341(TMEM5)
MYD: 102767891(TMEM5)
MNA: 107527142(TMEM5)
HAI: 109381648(TMEM5)
RSS: 109447793(TMEM5)
DRO: 112319159(RXYLT1)
PALE: 102877783(RXYLT1)
RAY: 107508215(TMEM5)
LAV: 100665764(RXYLT1)
TMU: 101347097
SHR: 100933243(RXYLT1)
OAA: 100086919(RXYLT1)
GGA: 417820(RXYLT1)
MGP: 100544427(TMEM5)
CJO: 107310084(TMEM5)
NMEL: 110392741(TMEM5)
APLA: 101796104(RXYLT1)
ACYG: 106047283(TMEM5)
TGU: 100218010(TMEM5)
LSR: 110479854(TMEM5)
SCAN: 103820429(TMEM5)
GFR: 102039233(TMEM5)
FAB: 101807811(TMEM5)
PHI: 102110954(TMEM5)
PMAJ: 107205102(TMEM5)
CCAE: 111932408(RXYLT1)
CCW: 104698351(TMEM5)
ETL: 114059396(RXYLT1)
FPG: 101921640(TMEM5)
FCH: 102053891(RXYLT1)
CLV: 102086203(TMEM5)
EGZ: 104135953(TMEM5)
NNI: 104011529(TMEM5)
ACUN: 113491375(RXYLT1)
PADL: 103919977(TMEM5)
AAM: 106488143(TMEM5)
ASN: 102382915(RXYLT1)
AMJ: 102576823(TMEM5)
PSS: 102459090(RXYLT1)
CMY: 102939667(TMEM5)
CPIC: 101945589(TMEM5)
ACS: 100560359 103278900(tmem5)
PVT: 110075094(TMEM5)
PBI: 103064453(RXYLT1)
PMUR: 107293325(RXYLT1)
GJA: 107123401(TMEM5)
XLA: 446820(tmem5.S)
XTR: 100145540(tmem5)
NPR: 108792582(TMEM5)
DRE: 557187(rxylt1)
SANH: 107670366(tmem5) 107684684
CCAR: 109110172(tmem5)
IPU: 108264772(tmem5)
PHYP: 113534283(rxylt1)
AMEX: 103039815(tmem5)
EEE: 113577197(rxylt1)
TRU: 101064249(rxylt1)
LCO: 104923719(rxylt1)
NCC: 104949270(tmem5)
MZE: 101485151(rxylt1)
OLA: 101158942(rxylt1)
XMA: 102232454(rxylt1)
XCO: 114155264(rxylt1)
PRET: 103466210(tmem5)
NFU: 107389076(tmem5)
KMR: 108237463(rxylt1)
AOCE: 111575928(tmem5)
CSEM: 103380416(tmem5)
POV: 109641917(tmem5)
LCF: 108875264(tmem5)
SDU: 111228597(tmem5)
HCQ: 109530509(tmem5)
BPEC: 110161333(tmem5)
MALB: 109961858(tmem5)
SASA: 100380601(tmem5)
OTW: 112252554(rxylt1)
SALP: 111952823(rxylt1)
ELS: 105018139(rxylt1)
SFM: 108935981(rxylt1)
PKI: 111860961(rxylt1)
LCM: 102347491(TMEM5)
CMK: 103179815(tmem5)
CIN: 100176272
SPU: 583032
APLC: 110974336
SKO: 100371491
BTAB: 109039481
CLEC: 106669996
ZNE: 110831162
DPTE: 113794600
PCAN: 112571562
MYI: 110443872
OBI: 106874473
ADF: 107327964
PDAM: 113679018
SPIS: 111323979
HMG: 101235002
 » show all
Taxonomy
Reference
1  [PMID:23217329]
  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
Am J Hum Genet 91:1135-43 (2012)
DOI:10.1016/j.ajhg.2012.10.009
  Sequence
[hsa:10329]
Reference
2  [PMID:27733679]
  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
J Biol Chem 291:24618-24627 (2016)
DOI:10.1074/jbc.M116.751917
  Sequence
[hsa:10329]
Other DBs
ExplorEnz - The Enzyme Database: 2.4.2.61
IUBMB Enzyme Nomenclature: 2.4.2.61
ExPASy - ENZYME nomenclature database: 2.4.2.61
BRENDA, the Enzyme Database: 2.4.2.61

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