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

ENSEMBL_homo_sapiens_GENE:ENSG00000000419.14 DPM1

HGNC:3005 DPM1

KEGG Gene (Homo sapiens):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

3909403

3909404

3909409

3909412

3909416

3909418

3909419

3909424

3909427

8067017

8813

AF007875_at

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:0036211

GO:0043178

GO:0043226

GO:0046872

GO:0055086

GO:0140096

GO:1901135

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

RefSeq

NP_001303964.1, NP_001303963.1, NP_003850.1, NP_001303965.1

OpenTargets

ENSG00000000419

GeneCards

O60762

HPA

ENSG00000000419-DPM1

Ensembl

ENSG00000000419, ENSP00000360644, ENST00000371588

PRO

O60762

Pharos - Targets

O60762

Orphanet

15886

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	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)	0.615	11
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.527	2