ALG8 V133Sfs*3

Stable Identifier
R-HSA-4724313
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase, ALG8_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ALG8, HUSSY-02
Chain
chain:1-526
Other Identifiers
0002680021
11732176_a_at
16742610
203545_at
32051_at
3383168
3383169
3383170
3383171
3383172
3383175
3383177
3383181
3383183
3383184
3383185
3383186
3383188
3383190
3383191
3383197
3383198
3383199
51898
61092_at
79053
7950654
A0A024R5K5
A_23_P13554
AAH01133
AJ224875
ALG8
ALG8-201
ALG8-202
ALG8-221
ALQ34222
AP002520
BC001133
CAA12176
CCDS41692
CCDS8258
CH471076
E9PK79
E9PKA5
E9PLP7
E9PNE2
E9PP04
E9PP80
E9PP96
E9PR58
EAW75048
EAW75050
EAW75051
ENSG00000159063
ENSP00000299626
ENSP00000365326
ENSP00000480742
ENST00000299626
ENST00000376156
ENST00000615266
EntrezGene:79053
g13129069_3p_at
GE55254
GO:0000033
GO:0003674
GO:0004583
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006464
GO:0006486
GO:0006487
GO:0006488
GO:0006490
GO:0006629
GO:0008150
GO:0009058
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0016758
GO:0042281
GO:0043226
GO:0097502
H0YDD3
H0YDV4
HGNC:23161
HPA051898
ILMN_1685413
ILMN_2271014
IPR004856
KU178764
MIM:608103
MIM:608104
MIM:617874
NM_001007027
NM_024079
NP_001007028
NP_076984
PF03155
PH_hs_0025774
PH_hs_0036017
TC11002133.hg
uc001oyz.2
uc001oza.2
uc058fvv.1
UPI000013E5C8
UPI00004B2480
XM_005274247
XM_011545252
XM_017018274
XP_005274304
XP_011543554
XP_016873763
XR_001747956
XR_428923
XR_950044
XR_950045
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 133 to 134 by SG
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein