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Protein

Dolichol phosphate-mannose biosynthesis regulatory protein

Gene

DPM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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 N-linked glycosylation via asparagine Source: Reactome
  • protein O-linked mannosylation Source: HGNC
  • regulation of protein stability Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-162699. Synthesis of dolichyl-phosphate mannose.
R-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).
UniPathwayiUPA00378.

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

HGNCiHGNC:3006. DPM2.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • dolichol-phosphate-mannose synthase complex Source: UniProtKB
  • endoplasmic reticulum membrane Source: HGNC
  • glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Source: HGNC
  • integral component of endoplasmic reticulum membrane Source: InterPro
Complete GO annotation...

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 rs397514503dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi8818.
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.
PRIDEiO94777.
TopDownProteomicsiO94777.

Expressioni

Gene expression databases

BgeeiENSG00000136908.
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.
IntActiO94777. 2 interactors.
STRINGi9606.ENSP00000322181.

Structurei

3D structure databases

ProteinModelPortaliO94777.
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.
InParanoidiO94777.
KOiK09658.
OMAiITYVMLK.
PhylomeDBiO94777.
TreeFamiTF300257.

Family and domain databases

InterProiIPR009914. DPM2.
[Graphical view]
PfamiPF07297. DPM2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06974523Y → C in CDG1U. 1 PublicationCorresponds to variant rs397514503dbSNPEnsembl.1
Natural variantiVAR_03389576T → S.3 PublicationsCorresponds to variant rs7997dbSNPEnsembl.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. Translation: CAI12615.1.
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

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. Translation: CAI12615.1.
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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Polymorphism and mutation databases

BioMutaiDPM2.

Proteomic databases

PaxDbiO94777.
PRIDEiO94777.
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.
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.
InParanoidiO94777.
KOiK09658.
OMAiITYVMLK.
PhylomeDBiO94777.
TreeFamiTF300257.

Enzyme and pathway databases

UniPathwayiUPA00378.
ReactomeiR-HSA-162699. Synthesis of dolichyl-phosphate mannose.
R-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).

Miscellaneous databases

ChiTaRSiDPM2. human.
GeneWikiiDPM2.
GenomeRNAii8818.
PROiO94777.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136908.
CleanExiHS_DPM2.
ExpressionAtlasiO94777. baseline and differential.
GenevisibleiO94777. HS.

Family and domain databases

InterProiIPR009914. DPM2.
[Graphical view]
PfamiPF07297. DPM2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDPM2_HUMAN
AccessioniPrimary (citable) accession number: O94777
Secondary accession number(s): Q5XKK9, Q6FGH3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 127 of the entry and version 3 of the sequence. [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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.