Reactome | ALG1 S150R [endoplasmic reticulum membrane]

ALG1 S150R [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4549311

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

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

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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

HGNC:18294 ALG1

KEGG:hsa: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

2693336

2693339

2693340

2701996

2701999

2716349

2716352

2989379

3317669

3317674

3317677

3337269

3337275

3380825

3403684

3646543

3646544

3646547

3646548

3646549

3646550

3646551

3646552

3646553

3646554

3646555

3646556

3646557

3646559

3646560

3646561

3646562

3646566

3646568

3646569

3646570

3646572

3646574

3646576

56052

61309_at

7993071

ADDON002366.hg

A_21_P0000837

A_23_P66306

GE61117

GO:0000030

GO:0003824

GO:0004578

GO:0005783

GO:0005789

GO:0006486

GO:0006487

GO:0006488

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0043226

GO:0098554

GO:1901135

HMNXSV003009227

HMNXSV003032233

HMNXSV003041718

HMNXSV003053014

Hs.134746.0.A1_3p_at

ILMN_1718093

PH_hs_0040277

TC03003171.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 S258L [endoplasmic reticulum membrane]

ALG1 R276W [endoplasmic reticulum membrane]

ALG1 C396* [endoplasmic reticulum membrane]

ALG1 G145D [endoplasmic reticulum membrane]

ALG1 [endoplasmic reticulum membrane]

Modified Residues

Name

L-serine 150 replaced with L-arginine

Coordinate

150

PsiMod

L-serine removal [MOD:01646]

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

L-arginine residue [MOD:00011]

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

Disease

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

Cross References

ENSEMBL

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

OpenTargets

ENSG00000033011

IntEnz

2.4.1.142

HPA

ENSG00000033011-ALG1

PRO

Q9BT22

Pharos - Targets

Q9BT22

GlyGen

Q9BT22

Orphanet

ALG1

HMDB Protein

HMDBP02363

Interactors (1)

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