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Protein

Dolichol-phosphate mannosyltransferase subunit 1

Gene

DPM1

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

GO - Biological processi

  • dolichol metabolic process Source: MGI
  • GDP-mannose metabolic process Source: Ensembl
  • GPI anchor biosynthetic process Source: UniProtKB
  • protein mannosylation Source: HGNC
  • protein N-linked glycosylation Source: GO_Central
  • protein N-linked glycosylation via asparagine Source: Reactome
  • protein O-linked mannosylation Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

BioCyciZFISH:ENSG00000000419-MONOMER.
BRENDAi2.4.1.83. 2681.
ReactomeiR-HSA-162699. Synthesis of dolichyl-phosphate mannose.
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

HGNCiHGNC:3005. DPM1.

Subcellular locationi

GO - Cellular componenti

  • dolichol-phosphate-mannose synthase complex Source: UniProtKB
  • endoplasmic reticulum Source: MGI
  • endoplasmic reticulum membrane Source: HGNC
  • membrane Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs121908583dbSNPEnsembl.1
Natural variantiVAR_070592152G → V in CDG1E; abolishes interaction with DPM3. 1 PublicationCorresponds to variant rs587777116dbSNPEnsembl.1
Natural variantiVAR_019841248S → P in CDG1E. 1 PublicationCorresponds to variant rs587777114dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi8813.
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

WithEntry#Exp.IntActNotes
DPM3Q9P2X04EBI-719526,EBI-9087337
TDO2P487753EBI-719526,EBI-743494

Protein-protein interaction databases

BioGridi114340. 24 interactors.
IntActiO60762. 28 interactors.
STRINGi9606.ENSP00000360644.

Structurei

3D structure databases

ProteinModelPortaliO60762.
SMRiO60762.
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.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
[Graphical view]
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 rs121908583dbSNPEnsembl.1
Natural variantiVAR_070592152G → V in CDG1E; abolishes interaction with DPM3. 1 PublicationCorresponds to variant rs587777116dbSNPEnsembl.1
Natural variantiVAR_019841248S → P in CDG1E. 1 PublicationCorresponds to variant rs587777114dbSNPEnsembl.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. Translation: CAB53749.1.
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.

Cross-referencesi

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. Translation: CAB53749.1.
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.

3D structure databases

ProteinModelPortaliO60762.
SMRiO60762.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114340. 24 interactors.
IntActiO60762. 28 interactors.
STRINGi9606.ENSP00000360644.

Protein family/group databases

CAZyiGT2. Glycosyltransferase Family 2.

PTM databases

iPTMnetiO60762.
PhosphoSitePlusiO60762.

Polymorphism and mutation databases

BioMutaiDPM1.

Proteomic databases

EPDiO60762.
MaxQBiO60762.
PaxDbiO60762.
PeptideAtlasiO60762.
PRIDEiO60762.

Protocols and materials databases

DNASUi8813.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8813.
DisGeNETi8813.
GeneCardsiDPM1.
GeneReviewsiDPM1.
HGNCiHGNC:3005. DPM1.
HPAiHPA051818.
MalaCardsiDPM1.
MIMi603503. gene.
608799. phenotype.
neXtProtiNX_O60762.
OpenTargetsiENSG00000000419.
Orphaneti79322. DPM1-CDG.
PharmGKBiPA27463.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2978. Eukaryota.
COG0463. LUCA.
GeneTreeiENSGT00550000075000.
HOGENOMiHOG000283250.
HOVERGENiHBG018967.
InParanoidiO60762.
KOiK00721.
PhylomeDBiO60762.
TreeFamiTF105617.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciZFISH:ENSG00000000419-MONOMER.
BRENDAi2.4.1.83. 2681.
ReactomeiR-HSA-162699. Synthesis of dolichyl-phosphate mannose.

Miscellaneous databases

ChiTaRSiDPM1. human.
GeneWikiiDPM1.
GenomeRNAii8813.
PROiO60762.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000000419.
CleanExiHS_DPM1.
ExpressionAtlasiO60762. baseline and differential.
GenevisibleiO60762. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiDPM1_HUMAN
AccessioniPrimary (citable) accession number: O60762
Secondary accession number(s): O15157, Q6IB78, Q96HK0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: August 1, 1998
Last modified: November 30, 2016
This is version 162 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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.