Reactome | ALG3 M157K [endoplasmic reticulum membrane]

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

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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

Other Identifiers

0000360377

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

8092457

A_23_P7005

A_24_P414269

GE60263

GO:0000030

GO:0000033

GO:0003674

GO:0005515

GO:0005575

GO:0005622

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

ILMN_1711886

PH_hs_0009235

TC03002067.hg

TC03003246.hg

Y09022_at

g5031952_3p_a_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

HPA

ENSG00000214160-ALG3

GeneCards

Q92685

Ensembl

ENSP00000402744, ENST00000445626, ENSG00000214160, ENSP00000380793, ENST00000397676

PRO

Q92685

Orphanet

15497

HMDB Protein

HMDBP01604

Interactors (11)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O43889 CREB3	7	CREB3(1-256) [cytosol] (R-HSA-8874135) CREB3(1-256) [nucleoplasm] (R-HSA-8874190) CREB3(1-291) [Golgi membrane] (R-HSA-8874181) CREB3(257-291) [Golgi membrane] (R-HSA-8874207) CREB3 [Golgi membrane] (R-HSA-8874123) CREB3(292-395) [Golgi membrane] (R-HSA-8874173) CREB3 [endoplasmic reticulum membrane] (R-HSA-8874165)	0.729	4
UniProt:O43889-2 CREB3			0.666	4
UniProt:Q16563 SYPL1			0.581	3
UniProt:P11912 CD79A	2	CD79A [plasma membrane] (R-HSA-197154) p-Y188,Y199-CD79A [plasma membrane] (R-HSA-983539)	0.556	3
UniProt:Q8WWF3 SSMM1			0.556	3
UniProt:Q4KMG9 TM52B			0.556	3
UniProt:Q9Y6X1 SERP1	2	SERP1 [cytosol] (R-HSA-5250574) SERP1 [endoplasmic reticulum membrane] (R-HSA-381045)	0.556	3
UniProt:Q3SXY8 ARL13B	7	PolyUb-Misfolded ARL13B [cytosol] (R-HSA-9641129) PolyUb-Misfolded ARL13B [lysosomal lumen] (R-HSA-9660004) 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)	0.556	3
UniProt:Q96SU4 OSBPL9	1	OSBPL9 [cytosol] (R-HSA-8867531)	0.508	2
UniProt:P22059 OSBP	1	OSBP [cytosol] (R-HSA-429725)	0.508	2
UniProt:Q07954 LRP1	3	LRP1 [plasma membrane] (R-HSA-1454844) LRP1 [endocytic vesicle membrane] (R-HSA-2230981) LRP1 [plasma membrane] (R-HSA-2424272)	0.508	2

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