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Aliases for DPM1 Gene

Aliases for DPM1 Gene

  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic Subunit 2 3
  • 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
  • CDGIE 3 6
  • MPDS 3 6
  • Dolichol-Phosphate Mannosyltransferase Subunit 1 3
  • DPM Synthase Complex, Catalytic Subunit 3
  • Dolichol Monophosphate Mannose Synthase 3
  • DPM Synthase Complex 2
  • Catalytic Subunit 2

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. [provided by RefSeq, Jul 2008]

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 recurrent respiratory papillomatosis. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include mannose binding and dolichyl-phosphate beta-D-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

Genomic Location for DPM1 Gene

Start:
50,934,867 bp from pter
End:
50,958,555 bp from pter
Size:
23,689 bases
Orientation:
Minus strand

Genomic View for DPM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys26, Lys80, Lys95, and Lys240
  • Modification sites at PhosphoSitePlus

Other Protein References for DPM1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DPM1 Gene

Gene Families for DPM1 Gene

HGNC:
  • GLT2 :Glycosyltransferase family 2 domain containing

Protein Domains for DPM1 Gene

Graphical View of Domain Structure for InterPro Entry

O60762

UniProtKB/Swiss-Prot:

DPM1_HUMAN :
  • O60762
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:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity IDA 9535917
GO:0004582 dolichyl-phosphate beta-D-mannosyltransferase activity IDA 10835346
GO:0005515 protein binding IPI 10835346
GO:0005537 mannose binding IEA --
GO:0016757 transferase activity, transferring glycosyl groups --
genes like me logo Genes that share ontologies with DPM1: view

Phenotypes for DPM1 Gene

GenomeRNAi human phenotypes for DPM1:
genes like me logo Genes that share phenotypes with DPM1: view

miRNA for DPM1 Gene

miRTarBase miRNAs that target DPM1

No data available for Animal Models , Transcription Factor Targeting 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
cytosol 2
nucleus 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005783 endoplasmic reticulum IDA 9724629
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0033185 dolichol-phosphate-mannose synthase complex IDA 10835346
genes like me logo Genes that share ontologies with DPM1: view

Pathways 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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process IDA 10835346
GO:0008152 metabolic process --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
genes like me logo Genes that share ontologies with DPM1: view

Compounds for DPM1 Gene

(5) HMDB Compounds for DPM1 Gene

Compound Synonyms Cas Number PubMed IDs
Dolichol phosphate
  • dolichol-phosphate
34457-14-2
Dolichol-20
  • Dolichol (C100)
2067-66-5
Dolichyl phosphate D-mannose
  • Dolichyl D-mannosyl phosphate
908211-94-9
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine diphosphate mannose
  • GDP mannose
3123-67-9

(1) Novoseek inferred chemical compound relationships for DPM1 Gene

Compound -log(P) Hits PubMed IDs
mannose 67.1 1
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

Integrated Proteomics: protein expression 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 expressions with DPM1: view

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
chimpanzee
(Pan troglodytes)
Mammalia DPM1 35
  • 99.74 (n)
  • 99.62 (a)
DPM1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia DPM1 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPM1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpm1 35
  • 87.69 (n)
  • 91.15 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.2812 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dpm1 35
  • 76.41 (n)
  • 88.98 (a)
Str.19938 35
zebrafish
(Danio rerio)
Actinopterygii dpm1 35
  • 75.07 (n)
  • 86.13 (a)
dpm1 36
  • 85 (a)
OneToOne
Dr.12934 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009866 35
  • 67.09 (n)
  • 79.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10166 35
  • 65.68 (n)
  • 75 (a)
CG10166 36
  • 73 (a)
OneToOne
CG10166 37
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea dpm-1 35
  • 64.07 (n)
  • 65.37 (a)
dpm-1 36
  • 63 (a)
OneToOne
Y66H1A.2 37
  • 64 (a)
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
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 intestinalis)
Ascidiacea Cin.2411 35
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 MAF
rs2273025 -- 50,955,059(+) TCCCA(A/C)ATGCG intron-variant
rs2426213 -- 50,952,068(+) CCTGG(A/G)TTTGA intron-variant
rs3787209 -- 50,951,795(-) TATTT(A/T)TTTTT intron-variant
rs6013046 -- 50,949,391(+) CACTC(G/T)TCCTC intron-variant
rs6020864 -- 50,950,842(+) ccagc(C/T)tcagt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834002 CNV Loss 17160897

Relevant External Links for DPM1 Gene

HapMap Linkage Disequilibrium report
DPM1
Human Gene Mutation Database (HGMD)
DPM1
Locus Specific Mutation Databases (LSDB)
DPM1

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

Disorders for DPM1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for DPM1 Gene including...

Search for DPM1 Gene in MalaCards »

(1) OMIM Diseases for DPM1 Gene (603503)

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.

(1) University of Copenhagen DISEASES for DPM1 Gene

(1) Novoseek inferred disease relationships for DPM1 Gene

Disease -log(P) Hits PubMed IDs
congenital disorders 80 1

Relevant External Links for DPM1

GeneTests
DPM1
GeneReviews
DPM1
Genetic Association Database (GAD)
DPM1
Human Genome Epidemiology (HuGE) Navigator
DPM1
genes like me logo Genes that share disorders with DPM1: view

Publications for DPM1 Gene

  1. 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 4 23
  2. 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
  3. 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 4 23
  4. 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 4 23
  5. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PMID: 10835346) Maeda Y. … Kinoshita T. (EMBO J. 2000) 3 4 23

Products for DPM1 Gene

Sources for DPM1 Gene

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