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)
MUN: 110541232 110544358 110544918
CGE: 100757873(Rxylt1)
NGI: 103728160 103732350
HGL: 101716790(Tmem5) 106007506
CCAN: 109688718(Tmem5) 109688719
OCU: 100345411(TMEM5)
TUP: 102496430(TMEM5)
CFA: 608152(TMEM5)
VVP: 112922312(RXYLT1)
AML: 100464740 105237985
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)
PCW: 110203945 110204005 110204694 110211014(TMEM5)
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)
SRX: 107722461 107738400
SANH: 107670366(tmem5) 107684684
SGH: 107559810 107587049
CCAR: 109110172(tmem5)
IPU: 108264772(tmem5)
PHYP: 113534283(rxylt1)
AMEX: 103039815(tmem5)
EEE: 113577197(rxylt1)
TRU: 101064249(rxylt1)
TNG: GSTEN00015931G001
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)
BFO: BRAFLDRAFT_66488 BRAFLDRAFT_66489
CIN: 100176272
SPU: 583032
APLC: 110974336
SKO: 100371491
BTAB: 109039481
CLEC: 106669996
PHU: Phum_PHUM354410
ZNE: 110831162
DPX: DAPPUDRAFT_335114 DAPPUDRAFT_48489
ISC: IscW_ISCW021970
TUT: 107359888 107363073
DPTE: 113794600
HRO: HELRODRAFT_191935
LGI: LOTGIDRAFT_228735
PCAN: 112571562
CRG: 105323570 105327647
MYI: 110443872
OBI: 106874473
LAK: 106150449 106167194
NVE: NEMVE_v1g191988 NEMVE_v1g221007
EPA: 110238447 110251687
ADF: 107327964
PDAM: 113679018
SPIS: 111323979
HMG: 101235002
TAD: TRIADDRAFT_19905
CVR: CHLNCDRAFT_136933
GSL: Gasu_16570
MBR: MONBRDRAFT_16245
SRE: PTSG_08361 PTSG_11330
ACAN: ACA1_058550
PIF: PITG_14617
PSOJ: PHYSODRAFT_302886
GTT: GUITHDRAFT_102172 GUITHDRAFT_115376
 » 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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Pathway (5)   
   KEGG PATHWAY (4)   
   KEGG MODULE (1)   
Chemical substance (4)   
   KEGG GLYCAN (4)   
Chemical reaction (1)   
   KEGG REACTION (1)   
Gene (763)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (195)   
   KEGG MGENES (567)   
All databases (773)   

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