Reactome | ALG3 G118D [endoplasmic reticulum membrane]

ALG3 G118D [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4720468

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

Icon

Locations in the PathwayBrowser

Expand all

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:hsa:10195 ALG3

Monarch:10195 ALG3

NCBI Gene:10195 ALG3

OMIM:608750 ALG3

UCSC:Q92685 ALG3

Reference Transcript

Other Identifiers

10195

11727061_a_at

11749588_a_at

16962185

207396_PM_s_at

207396_s_at

2708408

2708409

2708410

2708411

2708412

2708413

2708414

2708415

2708416

2708417

2708418

2708419

2708420

2708421

2708422

2708423

2708425

2708426

2708427

2708428

2847049

38161_at

8092457

A_23_P7005

A_24_P414269

GE60263

GO:0000030

GO:0000033

GO:0003824

GO:0005515

GO:0005783

GO:0005789

GO:0006486

GO:0006487

GO:0006488

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0043226

GO:0052925

GO:0098553

GO:1901135

HMNXSV003035333

ILMN_1711886

ILMN_1806845

PH_hs_0009235

TC03002067.hg

TC03003246.hg

Y09022_at

g5031952_3p_a_at

Participates

as a member of

ALG3 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

ALG3 R171Q [endoplasmic reticulum membrane]

ALG3 M157K [endoplasmic reticulum membrane]

ALG3 W71R [endoplasmic reticulum membrane]

ALG3 [endoplasmic reticulum membrane]

Modified Residues

Name

glycine 118 replaced with L-aspartic acid

Coordinate

118

PsiMod

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

L-aspartic acid residue [MOD:00013]

A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.

Disease

Name	Identifier	Synonyms
congenital disorder of glycosylation type I	DOID:0050570

Cross References

ENSEMBL

ENSP00000402744, ENST00000397676, ENST00000445626, ENSP00000380793

OpenTargets

ENSG00000214160

HPA

ENSG00000214160-ALG3

PRO

Q92685

Pharos - Targets

Q92685

Orphanet

ALG3

HMDB Protein

HMDBP01604

Interactors (13)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O43889 CREB3	7	CREB3 [endoplasmic reticulum membrane] (R-HSA-8874165) CREB3(292-371) [Golgi membrane] (R-HSA-8874173) CREB3 [Golgi membrane] (R-HSA-8874123) CREB3(257-291) [Golgi membrane] (R-HSA-8874207) CREB3(1-291) [Golgi membrane] (R-HSA-8874181) CREB3(1-256) [cytosol] (R-HSA-8874135) CREB3(1-256) [nucleoplasm] (R-HSA-8874190)	0.729	4
UniProt:O43889-2 CREB3			0.666	4
UniProt:Q16563 SYPL1			0.581	3
UniProt:P11912 CD79A	2	p-Y188,Y199-CD79A [plasma membrane] (R-HSA-983539) CD79A [plasma membrane] (R-HSA-197154)	0.556	3
UniProt:Q4KMG9 TM52B			0.556	3
UniProt:Q8WWF3 SSMM1			0.556	3
UniProt:Q9Y6X1 SERP1	2	SERP1 [endoplasmic reticulum membrane] (R-HSA-381045) SERP1 [cytosol] (R-HSA-5250574)	0.556	3
UniProt:Q3SXY8 ARL13B	8	PolyUb-Misfolded ARL13B [lysosomal lumen] (R-HSA-9660004) PolyUb-Misfolded ARL13B [cytosol] (R-HSA-9641129) Ub-Misfolded ARL13B [cytosol] (R-HSA-9641119) Misfolded ARL13B [cytosol] (R-HSA-9640110) Misfolded ARL13B [cilium] (R-HSA-9640116) ARL13B [cilium] (R-HSA-5618181) PolyUb-Misfolded ARL13B [late endosome lumen] (R-HSA-9659986) ARL13B [plasma membrane] (R-HSA-9716787)	0.556	3
UniProt:Q9P2G3 KLH14			0.527	2
UniProt:P43353 ALDH3B1	3	ALDH3B1 [secretory granule membrane] (R-HSA-6801023) ALDH3B1 [plasma membrane] (R-HSA-5696096) ALDH3B1 [specific granule membrane] (R-HSA-6799510)	0.527	2
UniProt:Q96SU4 OSBPL9	1	OSBPL9 [cytosol] (R-HSA-8867531)	0.508	2
UniProt:Q07954 LRP1	2	LRP1 [endocytic vesicle membrane] (R-HSA-2230981) LRP1 [plasma membrane] (R-HSA-1454844)	0.508	2
UniProt:P22059 OSBP	1	OSBP [cytosol] (R-HSA-429725)	0.508	2

Cite Us!