Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8813
Gene name Gene Name - the full gene name approved by the HGNC.	Dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DPM1
Synonyms (NCBI Gene) Gene synonyms aliases	CDGIE, MPDS
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mann

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908583	G>A,C,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant, missense variant
rs587777115	A>T	Pathogenic	Intron variant
rs1272097668	ATGTAGTTTCCTG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

Show/Hide all(32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029861	hsa-miR-26b-5p	Microarray	19088304
MIRT042406	hsa-miR-18b-5p	CLASH	23622248
MIRT1979536	hsa-miR-203	CLIP-seq
MIRT1979537	hsa-miR-300	CLIP-seq
MIRT1979538	hsa-miR-3646	CLIP-seq
MIRT1979539	hsa-miR-381	CLIP-seq
MIRT1979540	hsa-miR-4282	CLIP-seq
MIRT1979541	hsa-miR-4666-3p	CLIP-seq
MIRT1979542	hsa-miR-4717-5p	CLIP-seq
MIRT1979543	hsa-miR-4789-5p	CLIP-seq
MIRT1979544	hsa-miR-490-3p	CLIP-seq
MIRT1979545	hsa-miR-649	CLIP-seq
MIRT1979546	hsa-miR-891b	CLIP-seq
MIRT1979547	hsa-miR-944	CLIP-seq
MIRT2214629	hsa-miR-1178	CLIP-seq
MIRT2214630	hsa-miR-146a	CLIP-seq
MIRT2214631	hsa-miR-146b-5p	CLIP-seq
MIRT1979536	hsa-miR-203	CLIP-seq
MIRT2214632	hsa-miR-3120-3p	CLIP-seq
MIRT1979538	hsa-miR-3646	CLIP-seq
MIRT2214633	hsa-miR-3647-3p	CLIP-seq
MIRT2214634	hsa-miR-3662	CLIP-seq
MIRT2214635	hsa-miR-4461	CLIP-seq
MIRT2214636	hsa-miR-4698	CLIP-seq
MIRT1979544	hsa-miR-490-3p	CLIP-seq
MIRT2214637	hsa-miR-545	CLIP-seq
MIRT2214638	hsa-miR-548ad	CLIP-seq
MIRT2214639	hsa-miR-548p	CLIP-seq
MIRT2214640	hsa-miR-570	CLIP-seq
MIRT2214641	hsa-miR-580	CLIP-seq
MIRT2214642	hsa-miR-589	CLIP-seq
MIRT1979545	hsa-miR-649	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IDA	9535917
GO:0004582	Function	Dolichyl-phosphate beta-D-mannosyltransferase activity	IBA	21873635
GO:0004582	Function	Dolichyl-phosphate beta-D-mannosyltransferase activity	IDA	9535917, 10835346
GO:0005515	Function	Protein binding	IPI	10835346, 16280320, 23856421, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IDA	9724629
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	9724629
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IDA	9535917, 9724629, 10835346
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	9535917
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0019348	Process	Dolichol metabolic process	IBA	21873635
GO:0019348	Process	Dolichol metabolic process	IDA	9535917, 9724629
GO:0033185	Component	Dolichol-phosphate-mannose synthase complex	IDA	9724629, 10835346
GO:0035268	Process	Protein mannosylation	IDA	9535917
GO:0035269	Process	Protein O-linked mannosylation	IBA	21873635
GO:0035269	Process	Protein O-linked mannosylation	IDA	9535917

MIM	HGNC	e!Ensembl
603503	3005	ENSG00000000419

Protein

UniProt ID

O60762

Protein name

Dolichol-phosphate mannosyltransferase subunit 1 (EC 2.4.1.83) (Dolichol-phosphate mannose synthase subunit 1) (DPM synthase subunit 1) (Dolichyl-phosphate beta-D-mannosyltransferase subunit 1) (Mannose-P-dolichol synthase subunit 1) (MPD synthase subunit

Protein function

Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00535	Glycos_transf_2	28 → 199	Glycosyl transferase family 2	Family

Sequence

MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEI
IIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDAD
LSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGA
SDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESK
LGGNEIVSFLKGLLTLFATT

Sequence length

260

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways		Synthesis of dolichyl-phosphate mannose Defective DPM1 causes DPM1-CDG (CDG-1e) Defective DPM3 causes DPM3-CDG (CDG-1o) Defective DPM2 causes DPM2-CDG (CDG-1u)

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Antithrombin deficiency	Antithrombin III Deficiency	rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560 View all (41 more)
Congenital disorder of glycosylation	Congenital Disorders of Glycosylation, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie, Congenital disorder of glycosylation type 1q, DPM1-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)	10642597, 10642602, 15669674, 27604308, 23856421, 26729507
Hemangioma	Hemangioma	rs121917766
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913 View all (15 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Altitude Sickness	Associate	32299499
Alzheimer Disease	Associate	36405716
Congenital Disorders of Glycosylation	Associate	10642597, 23856421, 24243557, 36579437
Gerstmann Straussler Scheinker Disease	Associate	36579437
Myasthenic Syndrome Congenital Ie	Associate	10642597
Pancreatic Neoplasms	Associate	19931263
Walker Warburg Syndrome	Associate	23856421, 35932216

DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)