ALG6 A333V

Stable Identifier
R-HSA-4724295
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase, ALG6_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ALG6, My046
Chain
chain:1-507
Reference Transcript
Other Identifiers
0005270605
11723990_at
11723991_a_at
11751023_a_at
16665512
219649_at
29929
52733_at
52735_g_at
62536
70182_at
7901915
88210_at
A_14_P105676
A_14_P112481
A_23_P35168
ALG6
ALG6-202
CCDS30735
ENSG00000088035
ENSP00000360149
ENST00000371108
EntrezGene:29929
g7019324_3p_at
GE58524
GO:0003674
GO:0004583
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:0046527
HGNC:23157
Hs.258501
ILMN_1771411
IPR004856
MIM:603147
MIM:604566
NM_013339
NP_037471
PF03155
PH_hs_0029002
TC01000719.hg
uc021oof.1
UPI00001E057D
Participant Of
Other forms of this molecule
Modified Residues
Name
L-alanine 333 replaced with L-valine
Coordinate
333
PsiMod HEY
A protein modification that effectively removes or replaces an L-alanine.
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
congenital disorder of glycosylation type I 0050570
Cross References
RefSeq
Brenda
GeneCards
PRO
Orphanet
HMDB Protein