Reactome | DPM1 R92G [endoplasmic reticulum membrane]

DPM1 R92G [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4717370

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

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External Reference Information

External Reference

UniProt:O60762 DPM1

Gene Names

DPM1

Chain

initiator methionine:, chain:2-260

Reference Genes

BioGPS Gene:8813 DPM1

COSMIC (genes):DPM1 DPM1

CTD Gene:8813 DPM1

dbSNP Gene:8813 DPM1

ENSEMBL:ENSG00000000419 DPM1

HGNC:3005 DPM1

KEGG:hsa:8813 DPM1

Monarch:8813 DPM1

NCBI Gene:8813 DPM1

OMIM:603503 DPM1

UCSC:O60762 DPM1

Reference Transcript

Other Identifiers

11754523_a_at

16920287

202673_PM_at

202673_at

34879_at

3909396

3909397

3909398

3909399

3909400

3909401

3909402

3909403

3909404

3909407

3909408

3909409

3909410

3909412

3909413

3909414

3909416

3909417

3909418

3909419

3909420

3909422

3909423

3909424

3909427

3909428

3909430

8067017

8813

AF007875_at

A_23_P68472

GE56109

GO:0003824

GO:0004169

GO:0004582

GO:0005515

GO:0005537

GO:0005634

GO:0005783

GO:0005789

GO:0006486

GO:0006488

GO:0006506

GO:0006629

GO:0016020

GO:0016740

GO:0016757

GO:0018279

GO:0019348

GO:0019673

GO:0033185

GO:0035268

GO:0035269

GO:0043178

GO:0043226

GO:0046872

GO:0055086

GO:0070482

GO:0140096

GO:1901135

HMNXSV003041025

HMNXSV003047281

ILMN_1658992

ILMN_2105308

PH_hs_0000522

TC20000940.hg

g4503362_3p_at

Participates

as a member of

DPM1 mutants [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

DPM1 Q210Rfs*4 [endoplasmic reticulum membrane]

DPM1 G111Lfs*45 [endoplasmic reticulum membrane]

DPM1 [endoplasmic reticulum membrane]

Modified Residues

Name

L-arginine 92 replaced with glycine

Coordinate

PsiMod

L-arginine removal [MOD:01632]

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

glycine residue [MOD:00017]

A protein modification that effectively converts a source amino acid residue to a glycine.

Disease

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

Cross References

ENSEMBL

ENST00000371588, ENSP00000360644

OpenTargets

ENSG00000000419

HPA

ENSG00000000419-DPM1

PRO

O60762

Pharos - Targets

O60762

GlyGen

O60762

Orphanet

DPM1

HMDB Protein

HMDBP00384

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q13418 ILK	1	ILK [cytosol] (R-HSA-432864)	0.669	3
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)	0.615	11
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.527	2