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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DPM1
dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Chromosome 20 Β· 20q13.13
NCBI Gene: 8813Ensembl: ENSG00000000419.14HGNC: HGNC:3005UniProt: A0A0S2Z4Y5
175PubMed Papers
21Diseases
0Drugs
25Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GPI anchor biosynthetic processdolichyl monophosphate biosynthetic processdolichyl-phosphate beta-D-mannosyltransferase activityprotein bindingcongenital disorder of glycosylation type 1EDPM1-CDGcongenital disorder of glycosylationcongenital disorder of glycosylation type I
✦AI Summary

DPM1 is the catalytic subunit of dolichol-phosphate mannose (DPM) synthase complex, catalyzing the transfer of mannose from GDP-mannose to dolichol monophosphate to generate dolichol phosphate mannose (Dol-P-Man) 1. This activated lipid-linked mannose serves as the essential mannosyl donor for N-glycosylation, glycosylphosphatidylinositol (GPI) anchor biosynthesis, and protein O-mannosylation pathways 2. DPM1 functions as part of a three-subunit complex where DPM2 stabilizes DPM1 in the endoplasmic reticulum and enhances its catalytic activity, while DPM3 further stabilizes the complex 1. Beyond canonical glycosylation roles, DPM1 modulates desmosomal adhesion and epidermal differentiation through interactions with SERPINB5, influencing desmoplakin phosphorylation and intercellular junction integrity 3. Mutations in DPM1 cause Congenital Disorder of Glycosylation type 1E (CDG1E), characterized by defective protein glycosylation 2. Notably, DPM1 inhibition can paradoxically rescue DPAGT1 deficiency and ER stress in cellular models, suggesting therapeutic potential for DPAGT1-CDG despite DPM pathway impairment typically causing glycosylation disorders 4.

Sources cited
1
DPM1 is the catalytic subunit of a three-subunit DPM synthase complex; structure and stabilization mechanism of complex with DPM2 and DPM3
PMID: 10835346
2
DPM1 catalyzes mannose transfer from GDP-mannose to dolichol phosphate to produce Dol-P-Man; mutations in dpm1 cause congenital disorders of glycosylation
PMID: 28743912
3
DPM2 regulates DPM1 localization and stabilization in the endoplasmic reticulum and enhances substrate binding
PMID: 9724629
4
DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5 interaction with desmoplakin
PMID: 38477878
5
DPM1 inhibition rescues DPAGT1 deficiency and ER stress in in vivo models, suggesting therapeutic potential
PMID: 36166480
Disease Associationsβ“˜21
congenital disorder of glycosylation type 1EOpen Targets
0.81Strong
DPM1-CDGOpen Targets
0.77Strong
congenital disorder of glycosylationOpen Targets
0.57Moderate
congenital disorder of glycosylation type IOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
dengue diseaseOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.41Moderate
SRD5A3-congenital disorder of glycosylationOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
ParasomniaOpen Targets
0.03Suggestive
metabolic syndrome XOpen Targets
0.03Suggestive
ulcerative colitisOpen Targets
0.03Suggestive
trauma complicationOpen Targets
0.03Suggestive
spinal cord injuryOpen Targets
0.03Suggestive
KeloidOpen Targets
0.03Suggestive
Hallux valgusOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.02Suggestive
Congenital disorder of glycosylation 1EUniProt
Pathogenic Variants25
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)Pathogenic
Congenital disorder of glycosylation type 1E|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)Pathogenic
Congenital disorder of glycosylation type 1E|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 152
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)Pathogenic
Congenital disorder of glycosylation type 1E|DPM1-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 92
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)Pathogenic
Congenital disorder of glycosylation type 1E|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 111
NM_003859.3(DPM1):c.371A>G (p.His124Arg)Likely pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜…β˜†β˜†2021β†’ Residue 124
NM_003859.3(DPM1):c.563+1G>ALikely pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2025
NM_003859.3(DPM1):c.225del (p.Glu76fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 76
NM_003859.3(DPM1):c.564-1G>TPathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2024
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2024β†’ Residue 191
NM_003859.3(DPM1):c.566T>A (p.Leu189Ter)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2024β†’ Residue 189
NM_003859.3(DPM1):c.52del (p.Glu18fs)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2024β†’ Residue 18
NM_003859.3(DPM1):c.182del (p.Ile61fs)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2023β†’ Residue 61
NM_003859.3(DPM1):c.490_493del (p.Ile164fs)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2023β†’ Residue 164
NM_003859.3(DPM1):c.495-1G>TLikely pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2022
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2022β†’ Residue 176
NM_003859.3(DPM1):c.274C>T (p.Arg92Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 92
NM_003859.3(DPM1):c.566T>G (p.Leu189Ter)Likely pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2022β†’ Residue 189
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)Likely pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2021β†’ Residue 248
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)Pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2021β†’ Residue 57
NC_000020.11:g.(?_50940845)_(50942146_?)delLikely pathogenic
Congenital disorder of glycosylation type 1E
β˜…β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
PIGAProtein interaction100%POMGNT1Protein interaction99%POMT1Protein interaction99%POMT2Protein interaction99%POMKProtein interaction98%ALG13Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
88%
Brain
68%
Liver
65%
Ovary
57%
Lung
52%
Gene Interaction Network
Click a node to explore
DPM1PIGAPOMGNT1POMT1POMT2POMKALG13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60762
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.49–1.00]
RankingsWhere DPM1 stands among ~20K protein-coding genes
  • #2,501of 20,598
    Most Researched175 Β· top quartile
  • #1,970of 5,498
    Most Pathogenic Variants25
  • #9,743of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedDPM1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Identification of diagnostic genes for both Alzheimer's disease and Metabolic syndrome by the machine learning algorithm.
PMID: 36405716
Front Immunol Β· 2022
0.90
3
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.
PMID: 10835346
EMBO J Β· 2000
0.80
4
DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5.
PMID: 38477878
J Cell Biol Β· 2024
0.70
5
Involvement of abnormal dystroglycan expression and matriglycan levels in cancer pathogenesis.
PMID: 36494657
Cancer Cell Int Β· 2022
0.64