Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Dolichol phosphate-mannose biosynthesis regulatory protein

Gene

DPM2

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

Functioni

Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. When associated with the GPI-GlcNAc transferase (GPI-GnT) complex enhances but is not essential for its activity.1 Publication

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

  • enzyme regulator activity Source: GO_Central

GO - Biological processi

  • dolichol metabolic process Source: GO_Central
  • GPI anchor biosynthetic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome
  • protein O-linked mannosylation Source: HGNC
  • regulation of protein stability Source: UniProtKB

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000136908-MONOMER
ReactomeiR-HSA-162699 Synthesis of dolichyl-phosphate mannose
R-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
R-HSA-4719377 Defective DPM2 causes DPM2-CDG (CDG-1u)
UniPathwayi
UPA00378

Names & Taxonomyi

Protein namesi
Recommended name:
Dolichol phosphate-mannose biosynthesis regulatory protein
Alternative name(s):
Dolichol-phosphate mannose synthase subunit 2
Short name:
DPM synthase subunit 2
Gene namesi
Name:DPM2
ORF Names:My026
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136908.17
HGNCiHGNC:3006 DPM2
MIMi603564 gene
neXtProtiNX_O94777

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Transmembranei49 – 69HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1U (CDG1U)1 Publication
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 CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan.
See also OMIM:615042
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06974523Y → C in CDG1U. 1 PublicationCorresponds to variant dbSNP:rs397514503EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi8818
GeneReviewsiDPM2
MalaCardsiDPM2
MIMi615042 phenotype
OpenTargetsiENSG00000136908
Orphaneti329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
PharmGKBiPA27464

Polymorphism and mutation databases

BioMutaiDPM2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002208732 – 84Dolichol phosphate-mannose biosynthesis regulatory proteinAdd BLAST83

Proteomic databases

PaxDbiO94777
PeptideAtlasiO94777
PRIDEiO94777
ProteomicsDBi50437
TopDownProteomicsiO94777

Expressioni

Gene expression databases

BgeeiENSG00000136908 Expressed in 203 organ(s), highest expression level in endometrium epithelium
CleanExiHS_DPM2
ExpressionAtlasiO94777 baseline and differential
GenevisibleiO94777 HS

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. Associates with the GPI-GlcNAc transferase (GPI-GnT) complex.1 Publication

Protein-protein interaction databases

BioGridi114345, 3 interactors
CORUMiO94777
IntActiO94777, 2 interactors
STRINGi9606.ENSP00000322181

Structurei

3D structure databases

ProteinModelPortaliO94777
SMRiO94777
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DPM2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3488 Eukaryota
ENOG41122UH LUCA
GeneTreeiENSGT00390000001098
HOGENOMiHOG000212369
HOVERGENiHBG000508
InParanoidiO94777
KOiK09658
OMAiLFITYVM
PhylomeDBiO94777
TreeFamiTF300257

Family and domain databases

InterProiView protein in InterPro
IPR009914 DPM2
PANTHERiPTHR15039 PTHR15039, 1 hit
PfamiView protein in Pfam
PF07297 DPM2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O94777-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATGTDQVVG LGLVAVSLII FTYYTAWVIL LPFIDSQHVI HKYFLPRAYA
60 70 80
VAIPLAAGLL LLLFVGLFIS YVMLKTKRVT KKAQ
Length:84
Mass (Da):9,312
Last modified:January 23, 2007 - v3
Checksum:i0247A0843A711EE9
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T9C7Q5T9C7_HUMAN
Dolichol phosphate-mannose biosynth...
DPM2
130Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06974523Y → C in CDG1U. 1 PublicationCorresponds to variant dbSNP:rs397514503EnsemblClinVar.1
Natural variantiVAR_03389576T → S3 PublicationsCorresponds to variant dbSNP:rs7997EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB013361 mRNA Translation: BAA33974.1
AF061729 mRNA Translation: AAG43140.1
CR542134 mRNA Translation: CAG46931.1
AB451329 mRNA Translation: BAG70143.1
AB451473 mRNA Translation: BAG70287.1
AL157935 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87730.1
BC015233 mRNA Translation: AAH15233.1
BC107863 mRNA Translation: AAI07864.1
CCDSiCCDS6886.1
RefSeqiNP_003854.1, NM_003863.3
UniGeneiHs.108973

Genome annotation databases

EnsembliENST00000314392; ENSP00000322181; ENSG00000136908
GeneIDi8818
KEGGihsa:8818
UCSCiuc004bsv.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB013361 mRNA Translation: BAA33974.1
AF061729 mRNA Translation: AAG43140.1
CR542134 mRNA Translation: CAG46931.1
AB451329 mRNA Translation: BAG70143.1
AB451473 mRNA Translation: BAG70287.1
AL157935 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87730.1
BC015233 mRNA Translation: AAH15233.1
BC107863 mRNA Translation: AAI07864.1
CCDSiCCDS6886.1
RefSeqiNP_003854.1, NM_003863.3
UniGeneiHs.108973

3D structure databases

ProteinModelPortaliO94777
SMRiO94777
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114345, 3 interactors
CORUMiO94777
IntActiO94777, 2 interactors
STRINGi9606.ENSP00000322181

Polymorphism and mutation databases

BioMutaiDPM2

Proteomic databases

PaxDbiO94777
PeptideAtlasiO94777
PRIDEiO94777
ProteomicsDBi50437
TopDownProteomicsiO94777

Protocols and materials databases

DNASUi8818
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314392; ENSP00000322181; ENSG00000136908
GeneIDi8818
KEGGihsa:8818
UCSCiuc004bsv.3 human

Organism-specific databases

CTDi8818
DisGeNETi8818
EuPathDBiHostDB:ENSG00000136908.17
GeneCardsiDPM2
GeneReviewsiDPM2
HGNCiHGNC:3006 DPM2
MalaCardsiDPM2
MIMi603564 gene
615042 phenotype
neXtProtiNX_O94777
OpenTargetsiENSG00000136908
Orphaneti329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy
PharmGKBiPA27464
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3488 Eukaryota
ENOG41122UH LUCA
GeneTreeiENSGT00390000001098
HOGENOMiHOG000212369
HOVERGENiHBG000508
InParanoidiO94777
KOiK09658
OMAiLFITYVM
PhylomeDBiO94777
TreeFamiTF300257

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:ENSG00000136908-MONOMER
ReactomeiR-HSA-162699 Synthesis of dolichyl-phosphate mannose
R-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
R-HSA-4719377 Defective DPM2 causes DPM2-CDG (CDG-1u)

Miscellaneous databases

ChiTaRSiDPM2 human
GeneWikiiDPM2
GenomeRNAii8818
PROiPR:O94777
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136908 Expressed in 203 organ(s), highest expression level in endometrium epithelium
CleanExiHS_DPM2
ExpressionAtlasiO94777 baseline and differential
GenevisibleiO94777 HS

Family and domain databases

InterProiView protein in InterPro
IPR009914 DPM2
PANTHERiPTHR15039 PTHR15039, 1 hit
PfamiView protein in Pfam
PF07297 DPM2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDPM2_HUMAN
AccessioniPrimary (citable) accession number: O94777
Secondary accession number(s): Q5XKK9, Q6FGH3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 141 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again