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Protein

Dolichol-phosphate mannosyltransferase subunit 3

Gene

DPM3

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

Functioni

Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER.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 - Biological processi

  • carbohydrate metabolic process Source: ProtInc
  • GPI anchor biosynthetic process Source: UniProtKB
  • protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan Source: HGNC
  • protein mannosylation Source: HGNC
  • protein O-linked mannosylation Source: HGNC
  • regulation of protein stability Source: UniProtKB

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000179085-MONOMER
ReactomeiR-HSA-162699 Synthesis of dolichyl-phosphate mannose
R-HSA-4719360 Defective DPM3 causes DPM3-CDG (CDG-1o)
UniPathwayi
UPA00378

Names & Taxonomyi

Protein namesi
Recommended name:
Dolichol-phosphate mannosyltransferase subunit 3
Alternative name(s):
Dolichol-phosphate mannose synthase subunit 3
Short name:
DPM synthase subunit 3
Dolichyl-phosphate beta-D-mannosyltransferase subunit 3
Mannose-P-dolichol synthase subunit 3
Short name:
MPD synthase subunit 3
Prostin-1
Gene namesi
Name:DPM3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000179085.7
HGNCiHGNC:3007 DPM3
MIMi605951 gene
neXtProtiNX_Q9P2X0

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
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1O (CDG1O)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. CDG1O patients have increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan.
See also OMIM:612937
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06251885L → S in CDG1O; affects interaction with DPM1. 1 PublicationCorresponds to variant dbSNP:rs121908155EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi54344
GeneReviewsiDPM3
MalaCardsiDPM3
MIMi612937 phenotype
OpenTargetsiENSG00000179085
Orphaneti263494 DPM3-CDG
PharmGKBiPA27465

Polymorphism and mutation databases

BioMutaiDPM3
DMDMi125987822

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001950001 – 92Dolichol-phosphate mannosyltransferase subunit 3Add BLAST92

Proteomic databases

EPDiQ9P2X0
MaxQBiQ9P2X0
PaxDbiQ9P2X0
PeptideAtlasiQ9P2X0
PRIDEiQ9P2X0
ProteomicsDBi83907
83908 [Q9P2X0-2]
TopDownProteomicsiQ9P2X0-1 [Q9P2X0-1]
Q9P2X0-2 [Q9P2X0-2]

PTM databases

iPTMnetiQ9P2X0
PhosphoSitePlusiQ9P2X0
SwissPalmiQ9P2X0

Expressioni

Gene expression databases

BgeeiENSG00000179085 Expressed in 217 organ(s), highest expression level in adenohypophysis
CleanExiHS_DPM3
ExpressionAtlasiQ9P2X0 baseline and differential
GenevisibleiQ9P2X0 HS

Organism-specific databases

HPAiHPA014667

Interactioni

Subunit structurei

Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex associated with DPM1 via its C-terminal domain and with DPM2 via its N-terminal portion.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi119935, 9 interactors
CORUMiQ9P2X0
IntActiQ9P2X0, 15 interactors
STRINGi9606.ENSP00000357384

Structurei

3D structure databases

ProteinModelPortaliQ9P2X0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DPM3 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4841 Eukaryota
ENOG41121C3 LUCA
GeneTreeiENSGT00390000008892
HOGENOMiHOG000038272
HOVERGENiHBG018968
InParanoidiQ9P2X0
KOiK09659
OMAiYRVATFN
OrthoDBiEOG091G140M
PhylomeDBiQ9P2X0
TreeFamiTF300274

Family and domain databases

InterProiView protein in InterPro
IPR013174 DPM3
PANTHERiPTHR16433 PTHR16433, 1 hit
PfamiView protein in Pfam
PF08285 DPM3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9P2X0-1) [UniParc]FASTAAdd to basket
Also known as: Short

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTKLAQWLWG LAILGSTWVA LTTGALGLEL PLSCQEVLWP LPAYLLVSAG
60 70 80 90
CYALGTVGYR VATFHDCEDA ARELQSQIQE ARADLARRGL RF
Length:92
Mass (Da):10,094
Last modified:February 6, 2007 - v2
Checksum:iC350A6896842A877
GO
Isoform 2 (identifier: Q9P2X0-2) [UniParc]FASTAAdd to basket
Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLSVGGLRLSLVRFSFLLLRGALLPSLAVTM

Show »
Length:122
Mass (Da):13,277
Checksum:iDD8661D41C2AE5C0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti90L → V in BAA96291 (PubMed:10835346).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06251885L → S in CDG1O; affects interaction with DPM1. 1 PublicationCorresponds to variant dbSNP:rs121908155EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0013081M → MLSVGGLRLSLVRFSFLLLR GALLPSLAVTM in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB028128 mRNA Translation: BAA96291.1
AF312922 mRNA Translation: AAK28487.1
AF312923 mRNA Translation: AAK28486.1
AL691442 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53126.1
BC104202 mRNA Translation: AAI04203.1
BC104203 mRNA Translation: AAI04204.1
CCDSiCCDS1094.1 [Q9P2X0-2]
CCDS1095.1 [Q9P2X0-1]
RefSeqiNP_061846.2, NM_018973.3 [Q9P2X0-2]
NP_714963.1, NM_153741.1 [Q9P2X0-1]
XP_016856987.1, XM_017001498.1 [Q9P2X0-1]
UniGeneiHs.110477

Genome annotation databases

EnsembliENST00000341298; ENSP00000344338; ENSG00000179085 [Q9P2X0-1]
ENST00000368399; ENSP00000357384; ENSG00000179085 [Q9P2X0-2]
ENST00000368400; ENSP00000357385; ENSG00000179085 [Q9P2X0-1]
GeneIDi54344
KEGGihsa:54344
UCSCiuc001fhm.3 human [Q9P2X0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDPM3_HUMAN
AccessioniPrimary (citable) accession number: Q9P2X0
Secondary accession number(s): Q5SR62
, Q5SR63, Q9BXN4, Q9BXN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: February 6, 2007
Last modified: September 12, 2018
This is version 143 of the entry and version 2 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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