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ALG3 M157K [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4720484
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase, Dolichyl-P-Man:Man, ALG3_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective ALG3 causes ALG3-CDG (CDG-1d) (Homo sapiens)
Defective ALG3 does not add mannose to the N-glycan precursor (Homo sapiens)
ALG3 mutants [endoplasmic reticulum membrane] (Homo sapiens)
ALG3 M157K [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q92685 ALG3
Gene Names
ALG3, NOT, NOT56L
Chain
chain:1-438
Reference Genes
BioGPS Gene:10195 ALG3
COSMIC (genes):ALG3 ALG3
CTD Gene:10195 ALG3
dbSNP Gene:10195 ALG3
ENSEMBL:ENSG00000214160 ALG3
HGNC:23056 ALG3
KEGG Gene (Homo sapiens):10195 ALG3
Monarch:10195 ALG3
NCBI Gene:10195 ALG3
OMIM:608750 ALG3
UCSC:Q92685 ALG3
Reference Transcript
RefSeq:NM_001006941.2 ALG3
RefSeq:NM_005787.5 ALG3
Other Identifiers
0000360377
00510+2.4.1.258
00513+2.4.1.258
10195
11727061_a_at
11749588_a_at
16962185
207396_s_at
2708408
2708409
2708410
2708412
2708413
2708416
2708417
2708418
2708421
2708422
2708423
2708425
2708426
2708428
2847049
38161_at
45103
8092457
A_24_P414269
AAH02839
AAH04313
AC061705
AK289361
ALG3
ALG3-201
ALG3-205
BAF82050
BC002839
BC004313
C9J7S5
CAA70220
CCDS46967
CCDS46968
ENSG00000214160
ENSP00000380793
ENSP00000402744
ENST00000397676
ENST00000397676.7
ENST00000445626
ENST00000445626.6
EntrezGene:10195
EntrezGene:ALG3
F8WE30
F8WF93
g5031952_3p_a_at
GE60263
GO:0000030
GO:0000033
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0006464
GO:0006486
GO:0006488
GO:0006629
GO:0008150
GO:0009058
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0030176
GO:0043226
GO:0052925
GO:0097502
HGNC:23056
HPA045103
ILMN_1711886
IPR007873
MIM:601110
MIM:608750
NM_001006941
NM_005787
NP_001006942
NP_005778
NR_024534
PF05208
PH_hs_0009235
TC03002067.hg
TC03003246.hg
UPI0000125838
UPI000020A8BD
XM_011512322
XM_024453296
XP_011510624
XP_024309064
Y09022
Y09022_at
Participant Of
hasMember
ALG3 mutants [endoplasmic reticulum membrane]
Other forms of this molecule
ALG3 R171Q [endoplasmic reticulum membrane]
ALG3 G118D [endoplasmic reticulum membrane]
ALG3 W71R [endoplasmic reticulum membrane]
ALG3 [endoplasmic reticulum membrane]
Modified Residues
Name
L-methionine 157 replaced with L-lysine
Coordinate
157
PsiMod
L-methionine removal [MOD:01643]
A protein modification that effectively removes or replaces an L-methionine.
L-lysine residue [MOD:00021]
A protein modification that effectively converts a source amino acid residue to L-lysine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
0050570
Cross References
RefSeq
NP_001006942.1
,
NP_005778.1
OpenTargets
ENSG00000214160
GeneCards
Q92685
PRO
Q92685
Orphanet
15497
HMDB Protein
HMDBP01604
Interactors (5)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O43889-2 CREB3
0.556
3
UniProt:P11912 CD79A
2
CD79A [plasma membrane]
(R-HSA-197154)
p-Y188,Y199-CD79A [plasma membrane]
(R-HSA-983539)
0.488
2
UniProt:Q8WWF3 SSMM1
0.488
2
UniProt:Q4KMG9 TM52B
0.488
2
UniProt:Q3SXY8 ARL13B
2
ARL13B [cilium]
(R-HSA-5618181)
PolyUb-Misfolded ARL13B [cytosol]
(R-HSA-9641129)
0.488
2
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