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Aliases for DPM1 Gene

Aliases for DPM1 Gene

  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic Subunit 2 3 5
  • Dolichyl-Phosphate Beta-D-Mannosyltransferase Subunit 1 3 4
  • Dolichol-Phosphate Mannose Synthase Subunit 1 3 4
  • Mannose-P-Dolichol Synthase Subunit 1 3 4
  • DPM Synthase Subunit 1 3 4
  • MPD Synthase Subunit 1 3 4
  • EC 2.4.1.83 4 63
  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 1 Catalytic Subunit 3
  • Dolichol Monophosphate Mannose Synthase 3
  • DPM Synthase Complex, Catalytic Subunit 3
  • DPM Synthase Complex 2
  • Catalytic Subunit 2
  • CDGIE 3
  • MPDS 3

External Ids for DPM1 Gene

Previous GeneCards Identifiers for DPM1 Gene

  • GC20M049279
  • GC20M050189
  • GC20M050236
  • GC20M048985
  • GC20M049551
  • GC20M046299

Summaries for DPM1 Gene

Entrez Gene Summary for DPM1 Gene

  • Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

GeneCards Summary for DPM1 Gene

DPM1 (Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with DPM1 include congenital disorder of glycosylation, type ie and multiple personality disorder. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transferase activity, transferring glycosyl groups and dolichyl-phosphate-mannose-protein mannosyltransferase activity.

UniProtKB/Swiss-Prot for DPM1 Gene

  • 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.

Gene Wiki entry for DPM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPM1 Gene

Genomics for DPM1 Gene

Regulatory Elements for DPM1 Gene

Promoters for DPM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DPM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DPM1 Gene

Chromosome:
20
Start:
50,934,855 bp from pter
End:
50,958,561 bp from pter
Size:
23,707 bases
Orientation:
Minus strand

Genomic View for DPM1 Gene

Genes around DPM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPM1 Gene

Proteins for DPM1 Gene

  • Protein details for DPM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60762-DPM1_HUMAN
    Recommended name:
    Dolichol-phosphate mannosyltransferase subunit 1
    Protein Accession:
    O60762
    Secondary Accessions:
    • O15157
    • Q6IB78
    • Q96HK0

    Protein attributes for DPM1 Gene

    Size:
    260 amino acids
    Molecular mass:
    29634 Da
    Quaternary structure:
    • Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex interacts directly with DPM3.

neXtProt entry for DPM1 Gene

Proteomics data for DPM1 Gene at MOPED

Selected DME Specific Peptides for DPM1 Gene

Post-translational modifications for DPM1 Gene

  • Ubiquitination at Lys 26, Lys 80, Lys 95, and Lys 240
  • Modification sites at PhosphoSitePlus

Other Protein References for DPM1 Gene

Domains & Families for DPM1 Gene

Gene Families for DPM1 Gene

Protein Domains for DPM1 Gene

Graphical View of Domain Structure for InterPro Entry

O60762

UniProtKB/Swiss-Prot:

DPM1_HUMAN :
  • Belongs to the glycosyltransferase 2 family.
Family:
  • Belongs to the glycosyltransferase 2 family.
genes like me logo Genes that share domains with DPM1: view

Function for DPM1 Gene

Molecular function for DPM1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for DPM1 Gene

Gene Ontology (GO) - Molecular Function for DPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004582 dolichyl-phosphate beta-D-mannosyltransferase activity IEA,IDA 9535917
genes like me logo Genes that share ontologies with DPM1: view
genes like me logo Genes that share phenotypes with DPM1: view

Human Phenotype Ontology for DPM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPM1 Gene

MGI Knock Outs for DPM1:
  • Dpm1 tm1b(KOMP)Wtsi

Animal Model Products

miRNA for DPM1 Gene

miRTarBase miRNAs that target DPM1

No data available for Transcription Factor Targets and HOMER Transcription for DPM1 Gene

Localization for DPM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPM1 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPM1 Gene COMPARTMENTS Subcellular localization image for DPM1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
cytosol 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 9535917
genes like me logo Genes that share ontologies with DPM1: view

Pathways & Interactions for DPM1 Gene

genes like me logo Genes that share pathways with DPM1: view

UniProtKB/Swiss-Prot O60762-DPM1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0019673 GDP-mannose metabolic process IEA --
GO:0035268 protein mannosylation IDA 9535917
GO:0035269 protein O-linked mannosylation IDA 9535917
genes like me logo Genes that share ontologies with DPM1: view

No data available for SIGNOR curated interactions for DPM1 Gene

Drugs & Compounds for DPM1 Gene

(2) Drugs for DPM1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
dolichol phosphate Pharma Competitive, Inhibitor 0

(5) Additional Compounds for DPM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl beta-D-mannosyl phosphate
  • b-D-Mannopyranose-1-Ester with dolichol dihydrogen phosphate
  • beta-D-Mannopyranose-1-Ester with dolichol dihydrogen phosphate
  • D-Mannose ester with dolichol dihydrogen phosphate
  • Dolichol monophosphate mannose
  • Dolichyl D-mannosyl phosphate
Dolichyl phosphate D-mannose
  • Dolichol phosphate mannose
  • Dolichyl D-mannosyl phosphate
  • Dolichyl phosphate D-mannose
  • DPM
908211-94-9
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
genes like me logo Genes that share compounds with DPM1: view

Transcripts for DPM1 Gene

Unigene Clusters for DPM1 Gene

Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DPM1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - - - -
SP2:
SP3: - -
SP4: -
SP5: - - -
SP6:

Relevant External Links for DPM1 Gene

GeneLoc Exon Structure for
DPM1
ECgene alternative splicing isoforms for
DPM1

Expression for DPM1 Gene

mRNA expression in normal human tissues for DPM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DPM1 Gene

This gene is overexpressed in Bone (20.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DPM1 Gene



SOURCE GeneReport for Unigene cluster for DPM1 Gene Hs.654951

genes like me logo Genes that share expression patterns with DPM1: view

Protein tissue co-expression partners for DPM1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DPM1 Gene

Orthologs for DPM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPM1 35
  • 91.28 (n)
  • 92.69 (a)
DPM1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPM1 35
  • 93.85 (n)
  • 96.54 (a)
DPM1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpm1 35
  • 88.93 (n)
  • 95.02 (a)
Dpm1 16
Dpm1 36
  • 91 (a)
OneToMany
Gm20716 36
  • 91 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia DPM1 35
  • 99.74 (n)
  • 99.62 (a)
DPM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpm1 35
  • 87.69 (n)
  • 91.15 (a)
oppossum
(Monodelphis domestica)
Mammalia DPM1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPM1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPM1 35
  • 81.5 (n)
  • 91.1 (a)
DPM1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPM1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpm1 35
  • 76.41 (n)
  • 88.98 (a)
Str.19938 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2812 35
zebrafish
(Danio rerio)
Actinopterygii dpm1 35
  • 75.07 (n)
  • 86.13 (a)
Dr.12934 35
dpm1 36
  • 85 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10166 37
  • 75 (a)
CG10166 35
  • 65.68 (n)
  • 75 (a)
CG10166 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009866 35
  • 67.09 (n)
  • 79.75 (a)
worm
(Caenorhabditis elegans)
Secernentea Y66H1A.2 37
  • 64 (a)
dpm-1 35
  • 64.07 (n)
  • 65.37 (a)
dpm-1 36
  • 63 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPM1 36
  • 28 (a)
OneToOne
DPM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G20575 35
  • 61.32 (n)
  • 63.79 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.7423 35
rice
(Oryza sativa)
Liliopsida Os.7448 35
Os03g0824400 35
  • 63.69 (n)
  • 65.96 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.617 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2411 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07965 35
  • 55.46 (n)
  • 61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dpm1 35
  • 60.94 (n)
  • 66.52 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2945 36
  • 74 (a)
OneToOne
Species with no ortholog for DPM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DPM1 Gene

ENSEMBL:
Gene Tree for DPM1 (if available)
TreeFam:
Gene Tree for DPM1 (if available)

Paralogs for DPM1 Gene

No data available for Paralogs for DPM1 Gene

Variants for DPM1 Gene

Sequence variations from dbSNP and Humsavar for DPM1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_012341 Congenital disorder of glycosylation 1E (CDG1E)
VAR_019841 Congenital disorder of glycosylation 1E (CDG1E)
VAR_070592 Congenital disorder of glycosylation 1E (CDG1E)
rs2273025 -- 50,955,059(+) TCCCA(A/C)ATGCG intron-variant
rs3787209 -- 50,951,795(-) TATTT(A/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DPM1 Gene

Variant ID Type Subtype PubMed ID
nsv834002 CNV Loss 17160897

Variation tolerance for DPM1 Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPM1 Gene

HapMap Linkage Disequilibrium report
DPM1
Human Gene Mutation Database (HGMD)
DPM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPM1 Gene

Disorders for DPM1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DPM1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ie
  • congenital disorder of glycosylation, type iu
multiple personality disorder
  • dissociative identity disorder
dissociative disorder
  • dissociative disease
facial neuralgia
hemorrhagic thrombocythemia
  • essential thrombocythaemia
- elite association - COSMIC cancer census association via MalaCards
Search DPM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPM1_HUMAN
  • Congenital disorder of glycosylation 1E (CDG1E) [MIM:608799]: 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. {ECO:0000269 PubMed:10642597, ECO:0000269 PubMed:10642602, ECO:0000269 PubMed:15669674, ECO:0000269 PubMed:23856421}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DPM1

Genetic Association Database (GAD)
DPM1
Human Genome Epidemiology (HuGE) Navigator
DPM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPM1
genes like me logo Genes that share disorders with DPM1: view

No data available for Genatlas for DPM1 Gene

Publications for DPM1 Gene

  1. A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells. (PMID: 9535917) Tomita S. … Kinoshita T. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe. (PMID: 9223280) Colussi P.A. … Orlean P. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 23
  3. Congenital disorder of glycosylation (CDG) type Ie. A new patient. (PMID: 15669674) Garcia-Silva M.T. … Briones P. (J. Inherit. Metab. Dis. 2004) 3 23
  4. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). (PMID: 10642597) Kim S. … Freeze H.H. (J. Clin. Invest. 2000) 3 23
  5. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. (PMID: 10642602) Imbach T. … Hennet T. (J. Clin. Invest. 2000) 3 23

Products for DPM1 Gene

Sources for DPM1 Gene

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