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ALG11 Y279S [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4570575
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Asparagine-linked glycosylation protein 11 homolog, ALG11_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective ALG11 causes CDG-1p (Homo sapiens)
Defective ALG11 does not transfer Man to the N-glycan precursor (Homo sapiens)
ALG11 mutants [endoplasmic reticulum membrane] (Homo sapiens)
ALG11 Y279S [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q2TAA5 ALG11
Gene Names
ALG11, GT8
Chain
chain:1-492
Reference Genes
BioGPS Gene:440138 ALG11
COSMIC (genes):ALG11 ALG11
CTD Gene:440138 ALG11
dbSNP Gene:440138 ALG11
ENSEMBL:ENSG00000253710 ALG11
ENSEMBL:ENSG00000253710.5 ALG11
HGNC:32456 ALG11
KEGG Gene (Homo sapiens):440138 ALG11
Monarch:440138 ALG11
NCBI Gene:440138 ALG11
OMIM:613666 ALG11
UCSC:Q2TAA5 ALG11
Reference Transcript
RefSeq:NM_001004127.2 ALG11
Other Identifiers
11722485_a_at
11722486_a_at
11722487_x_at
11722488_a_at
11722489_a_at
11733838_s_at
16774999
203614_PM_at
203614_at
221513_PM_s_at
221513_s_at
3490508
3490509
3490515
3490516
3490521
3490522
3490523
3490524
3490525
3490526
3490527
3490528
3490532
3490533
3490534
3490535
3490536
3490537
3490538
3490539
3490540
3490541
3490542
3490543
3490544
3490545
3490547
39405_at
3990578
3990587
3990589
3990597
3990598
3990603
440138
7969228
89742_at
89897_s_at
A_14_P115902
A_14_P126115
A_24_P102389
A_24_P201879
A_33_P3229161
A_33_P3230876
D87455_at
GE543941
GE57408
GO:0000026
GO:0003824
GO:0004377
GO:0005783
GO:0005789
GO:0006486
GO:0006487
GO:0006490
GO:0006629
GO:0016020
GO:0016740
GO:0016757
GO:0036211
GO:0043226
GO:1901135
HMNXSV003037189
ILMN_1660856
ILMN_1686645
PH_hs_0032081
PH_hs_0040378
TC13000220.hg
TC13001098.hg
g11063982_3p_at
Participates
as a member of
ALG11 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
ALG11 E398K [endoplasmic reticulum membrane]
ALG11 Q318P [endoplasmic reticulum membrane]
ALG11 L86S [endoplasmic reticulum membrane]
ALG11 L381S [endoplasmic reticulum membrane]
ALG11 [endoplasmic reticulum membrane]
Modified Residues
Name
L-tyrosine 279 replaced with L-serine
Coordinate
279
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
NP_001004127.2
OpenTargets
ENSG00000253710
GeneCards
Q2TAA5
HPA
ENSG00000253710-ALG11
Ensembl
ENST00000521508
,
ENSP00000430236
,
ENSG00000253710
PRO
Q2TAA5
Pharos - Targets
Q2TAA5
Orphanet
20426
HMDB Protein
HMDBP11608
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P0DTD1-PRO_0000449622 REP
0.527
2
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