Reactome | ALG1 R276W [endoplasmic reticulum membrane]

ALG1 R276W [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4549401

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Chitobiosyldiphosphodolichol beta-mannosyltransferase, ALG1_HUMAN, GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase

Icon

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q9BT22 ALG1

Gene Names

ALG1, HMAT1, HMT1, PSEC0061, UNQ861/PRO1870

Chain

chain:1-464

Reference Genes

BioGPS Gene:56052 ALG1

COSMIC (genes):ALG1 ALG1

CTD Gene:56052 ALG1

dbSNP Gene:56052 ALG1

ENSEMBL:ENSG00000033011 ALG1

ENSEMBL_homo_sapiens_GENE:ENSG00000033011.14 ALG1

HGNC:18294 ALG1

KEGG Gene (Homo sapiens):56052 ALG1

Monarch:56052 ALG1

NCBI Gene:56052 ALG1

OMIM:605907 ALG1

UCSC:Q9BT22 ALG1

Reference Transcript

Other Identifiers

11728198_at

16815649

16815652

17120560

17120562

223355_PM_at

223355_at

236626_PM_at

236626_at

2630229

2641979

2693334

2693335

2693339

2701994

2701995

2701999

2716349

2716355

2716357

2716370

2716372

2760176

2989379

2989383

3317669

3317675

3317677

3317680

3337269

3337276

3380824

3403685

3646543

3646548

3646549

3646550

3646551

3646552

3646553

3646554

3646555

3646556

3646557

3646559

3646560

3646563

3646564

3646565

3646566

3646567

3646568

3646569

3646570

3646572

3646574

3646576

56052

61309_at

64026_f_at

7993071

ADDON002366.hg

A_21_P0000837

A_23_P66306

GE61117

GO:0000030

GO:0003824

GO:0004578

GO:0005783

GO:0005789

GO:0006486

GO:0006488

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0036211

GO:0043226

GO:1901135

HMNXSV003032233

HMNXSV003053014

Hs.134746.0.A1_3p_at

ILMN_1718093

PH_hs_0040277

TC03000438.hg

TC03003171.hg

TC04000053.hg

TC04001029.hg

TC11000698.hg

TC16000139.hg

TC16001399.hg

g13325167_3p_at

p25035

Participates

as a member of

ALG1 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

ALG1 M377V [endoplasmic reticulum membrane]

ALG1 E342P [endoplasmic reticulum membrane]

ALG1 [endoplasmic reticulum membrane]

ALG1 G145D [endoplasmic reticulum membrane]

ALG1 C396* [endoplasmic reticulum membrane]

ALG1 S150R [endoplasmic reticulum membrane]

ALG1 S258L [endoplasmic reticulum membrane]

Modified Residues

Name

L-arginine 276 replaced with L-tryptophan

Coordinate

276

PsiMod

L-tryptophan residue [MOD:00027]

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

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

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

Cross References

RefSeq

NP_001317433.1, NP_061982.3, XP_016878947.1

OpenTargets

ENSG00000033011

IntEnz

2.4.1.142

HPA

ENSG00000033011-ALG1

GeneCards

Q9BT22

Ensembl

ENSP00000440019, ENSP00000262374, ENST00000544428, ENSG00000033011, ENST00000262374, ENST00000683739, ENST00000588623, ENSP00000468118, ENSP00000507002

PRO

Q9BT22

Pharos - Targets

Q9BT22

Orphanet

15493

HMDB Protein

HMDBP02363

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P13569 CFTR	17	PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.483	6