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Protein

Dolichol-phosphate mannosyltransferase subunit 1

Gene

DPM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.

Catalytic activityi

GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • dolichyl-phosphate beta-D-mannosyltransferase activity Source: UniProtKB
  • dolichyl-phosphate-mannose-protein mannosyltransferase activity Source: HGNC

GO - Biological processi

  • dolichol metabolic process Source: MGI
  • GPI anchor biosynthetic process Source: UniProtKB
  • protein mannosylation Source: HGNC
  • protein O-linked mannosylation Source: HGNC

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000000419-MONOMER
BRENDAi2.4.1.83 2681
ReactomeiR-HSA-162699 Synthesis of dolichyl-phosphate mannose
R-HSA-4717374 Defective DPM1 causes DPM1-CDG (CDG-1e)
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT2 Glycosyltransferase Family 2

Names & Taxonomyi

Protein namesi
Recommended name:
Dolichol-phosphate mannosyltransferase subunit 1 (EC:2.4.1.83)
Alternative name(s):
Dolichol-phosphate mannose synthase subunit 1
Short name:
DPM synthase subunit 1
Dolichyl-phosphate beta-D-mannosyltransferase subunit 1
Mannose-P-dolichol synthase subunit 1
Short name:
MPD synthase subunit 1
Gene namesi
Name:DPM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000000419.12
HGNCiHGNC:3005 DPM1
MIMi603503 gene
neXtProtiNX_O60762

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1E (CDG1E)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy.
See also OMIM:608799
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01234192R → G in CDG1E. 2 PublicationsCorresponds to variant dbSNP:rs121908583EnsemblClinVar.1
Natural variantiVAR_070592152G → V in CDG1E; abolishes interaction with DPM3. 1 PublicationCorresponds to variant dbSNP:rs587777116EnsemblClinVar.1
Natural variantiVAR_019841248S → P in CDG1E. 1 PublicationCorresponds to variant dbSNP:rs587777114EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy

Organism-specific databases

DisGeNETi8813
GeneReviewsiDPM1
MalaCardsiDPM1
MIMi608799 phenotype
OpenTargetsiENSG00000000419
Orphaneti79322 DPM1-CDG
PharmGKBiPA27463

Polymorphism and mutation databases

BioMutaiDPM1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000591702 – 260Dolichol-phosphate mannosyltransferase subunit 1Add BLAST259

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei3PhosphoserineCombined sources1
Modified residuei9PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO60762
MaxQBiO60762
PaxDbiO60762
PeptideAtlasiO60762
PRIDEiO60762

PTM databases

iPTMnetiO60762
PhosphoSitePlusiO60762

Expressioni

Gene expression databases

BgeeiENSG00000000419
CleanExiHS_DPM1
ExpressionAtlasiO60762 baseline and differential
GenevisibleiO60762 HS

Organism-specific databases

HPAiHPA051818

Interactioni

Subunit structurei

Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex interacts directly with DPM3.2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi114340, 27 interactors
CORUMiO60762
IntActiO60762, 36 interactors
MINTiO60762
STRINGi9606.ENSP00000360644

Structurei

3D structure databases

ProteinModelPortaliO60762
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 2 family.Curated

Phylogenomic databases

eggNOGiKOG2978 Eukaryota
COG0463 LUCA
GeneTreeiENSGT00550000075000
HOGENOMiHOG000283250
HOVERGENiHBG018967
InParanoidiO60762
KOiK00721
PhylomeDBiO60762
TreeFamiTF105617

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001173 Glyco_trans_2-like
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00535 Glycos_transf_2, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O60762-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASLEVSRSP RRSRRELEVR SPRQNKYSVL LPTYNERENL PLIVWLLVKS
60 70 80 90 100
FSESGINYEI IIIDDGSPDG TRDVAEQLEK IYGSDRILLR PREKKLGLGT
110 120 130 140 150
AYIHGMKHAT GNYIIIMDAD LSHHPKFIPE FIRKQKEGNF DIVSGTRYKG
160 170 180 190 200
NGGVYGWDLK RKIISRGANF LTQILLRPGA SDLTGSFRLY RKEVLEKLIE
210 220 230 240 250
KCVSKGYVFQ MEMIVRARQL NYTIGEVPIS FVDRVYGESK LGGNEIVSFL
260
KGLLTLFATT
Length:260
Mass (Da):29,634
Last modified:August 1, 1998 - v1
Checksum:i9792145BFC8F0514
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9S → G in AAH08466 (PubMed:15489334).Curated1
Sequence conflicti15R → W in AAC98797 (PubMed:9223280).Curated1
Sequence conflicti135Q → K in AAC98797 (PubMed:9223280).Curated1
Sequence conflicti143V → A in AAC98797 (PubMed:9223280).Curated1
Sequence conflicti154V → I in AAC98797 (PubMed:9223280).Curated1
Sequence conflicti177R → T in AAC98797 (PubMed:9223280).Curated1
Sequence conflicti191R → P in AAC98797 (PubMed:9223280).Curated1
Sequence conflicti220L → M in AAH08466 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01234192R → G in CDG1E. 2 PublicationsCorresponds to variant dbSNP:rs121908583EnsemblClinVar.1
Natural variantiVAR_070592152G → V in CDG1E; abolishes interaction with DPM3. 1 PublicationCorresponds to variant dbSNP:rs587777116EnsemblClinVar.1
Natural variantiVAR_019841248S → P in CDG1E. 1 PublicationCorresponds to variant dbSNP:rs587777114EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D86198 mRNA Translation: BAA25646.1
D86202 Genomic DNA Translation: BAA25647.1
CR456926 mRNA Translation: CAG33207.1
AK289569 mRNA Translation: BAF82258.1
AL034553 Genomic DNA No translation available.
BC007073 mRNA Translation: AAH07073.1
BC008466 mRNA Translation: AAH08466.1
BC016322 mRNA Translation: AAH16322.1
AF007875 mRNA Translation: AAC98797.1
CCDSiCCDS13434.1
RefSeqiNP_001303963.1, NM_001317034.1
NP_001303964.1, NM_001317035.1
NP_001303965.1, NM_001317036.1
NP_003850.1, NM_003859.2
UniGeneiHs.654951

Genome annotation databases

EnsembliENST00000371588; ENSP00000360644; ENSG00000000419
GeneIDi8813
KEGGihsa:8813
UCSCiuc002xvw.2 human

Similar proteinsi

Entry informationi

Entry nameiDPM1_HUMAN
AccessioniPrimary (citable) accession number: O60762
Secondary accession number(s): O15157, Q6IB78, Q96HK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: August 1, 1998
Last modified: May 23, 2018
This is version 174 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health