DPM1 Gene (Protein Coding)

Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic

GC20M050934
GIFtS:
45
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 l... See more...

Aliases for DPM1 Gene

Aliases for DPM1 Gene

  • Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic 2 3 5
  • Dolichyl-Phosphate Beta-D-Mannosyltransferase Subunit 1 3 4
  • Dolichol-Phosphate Mannosyltransferase Subunit 1 3 4
  • Dolichol-Phosphate Mannose Synthase Subunit 1 3 4
  • DPM Synthase Complex, Catalytic Subunit 2 3
  • 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 52
  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 1, Catalytic Subunit 2
  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 1 Catalytic Subunit 3
  • Dolichol Monophosphate Mannose Synthase 3
  • 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 Subunit 1, Catalytic) is a Protein Coding gene. Diseases associated with DPM1 include Congenital Disorder Of Glycosylation, Type Ie and Primary Polycythemia. Among its related pathways are Metabolism of proteins and N-Glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is ALG5.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for DPM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPM1 Gene

Genomics for DPM1 Gene

GeneHancer (GH) Regulatory Elements for DPM1 Gene

Promoters and enhancers for DPM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPM1

Top Transcription factor binding sites by QIAGEN in the DPM1 gene promoter:
  • c-Myc
  • C/EBPalpha
  • COMP1
  • CUTL1
  • HOXA5
  • Max1
  • NRF-2
  • STAT5A

Genomic Locations for DPM1 Gene

Genomic Locations for DPM1 Gene
chr20:50,934,855-50,958,561
(GRCh38/hg38)
Size:
23,707 bases
Orientation:
Minus strand
chr20:49,551,404-49,575,092
(GRCh37/hg19)
Size:
23,689 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 Structure • Gene Density

RefSeq DNA sequence for DPM1 Gene

Proteins for DPM1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for DPM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DPM1 Gene

O60762:
  • KYSVLLPTYNER
  • KHATGNY
  • YGESKLG
  • IDDGSPDGT
  • TGSFRLY
  • KLGLGTAYIHG
  • NYTIGEVPI

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:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for DPM1
  • Santa Cruz Biotechnology (SCBT) Antibodies for DPM1

Domains & Families for DPM1 Gene

Gene Families for DPM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DPM1 Gene

Blocks:
  • Glycosyl transferase, family 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DPM1 Gene

GenScript: Design optimal peptide antigens:
  • Mannose-P-dolichol synthase (DPM1_HUMAN)
  • Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (Q5QPK0_HUMAN)
  • Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (Q96HK0_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DPM1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dolichyl phosphate + GDP-alpha-D-mannose = dolichyl beta-D-mannosyl phosphate + GDP; Xref=Rhea:RHEA:21184, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, ChEBI:CHEBI:57527, ChEBI:CHEBI:57683, ChEBI:CHEBI:58189, ChEBI:CHEBI:58211; EC=2.4.1.83;.

Enzyme Numbers (IUBMB) for DPM1 Gene

Phenotypes From GWAS Catalog 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,IEA 9535917
GO:0005515 protein binding IPI 10835346
GO:0005537 mannose binding IEA --
GO:0016740 transferase activity IEA --
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 Dpm1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DPM1 Gene

miRTarBase miRNAs that target DPM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPM1

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPM1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
plasma membrane 2
mitochondrion 2
nucleus 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DPM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005783 endoplasmic reticulum IEA,IDA 9724629
GO:0005789 endoplasmic reticulum membrane IDA,TAS --
GO:0016020 membrane IDA 9535917
GO:0033185 dolichol-phosphate-mannose synthase complex IDA 9724629
genes like me logo Genes that share ontologies with DPM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPM1 Gene

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:0006486 protein glycosylation IEA --
GO:0006506 GPI anchor biosynthetic process IDA,IBA 9535917
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0019348 dolichol metabolic process IDA,IEA 9535917
GO:0019673 GDP-mannose metabolic process IEA --
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

Products:

  1. Drug

(3) Drugs for DPM1 Gene - From: HMDB and Novoseek

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

(4) Additional Compounds for DPM1 Gene - From: HMDB

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
  • DPM
 908211-94-9
Guanosine diphosphate mannose
  • GDP-D-Mannose
  • GDPmannose
  • Guanosine 5'-(trihydrogen diphosphate), mono-alpha-D-mannopyranosyl ester
  • Guanosine diphosphomannose
  • Guanosine pyrophosphate mannose
 3123-67-9
genes like me logo Genes that share compounds with DPM1: view

Transcripts for DPM1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DPM1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPM1

Clone Products

  • Addgene plasmids for DPM1

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

Expression for DPM1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPM1 Gene

mRNA expression in normal human tissues for DPM1 Gene
mRNA expression by GTEx for DPM1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for DPM1 Gene



Protein tissue co-expression partners for DPM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPM1

SOURCE GeneReport for Unigene cluster for DPM1 Gene:

Hs.654951

Evidence on tissue expression from TISSUES for DPM1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Blood(2.8)
  • Bone marrow(2.7)
  • Spleen(2.2)
  • Kidney(2.1)
  • Muscle(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Thorax:
  • heart
  • lung
Abdomen:
  • liver
  • spleen
Limb:
  • ankle
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns 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 31 30
  • 99.74 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia DPM1 31 30
  • 93.85 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DPM1 31 30
  • 91.28 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gm20716 31
  • 91 (a)
 OneToMany
Dpm1 17 31 30
  • 88.93 (n)
rat
(Rattus norvegicus)
 Mammalia Dpm1 30
  • 87.69 (n)
oppossum
(Monodelphis domestica)
 Mammalia DPM1 31
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DPM1 31
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DPM1 31 30
  • 81.5 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DPM1 31
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dpm1 30
  • 76.41 (n)
Str.19938 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.2812 30
zebrafish
(Danio rerio)
 Actinopterygii dpm1 31 30
  • 75.07 (n)
 OneToOne
Dr.12934 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009866 30
  • 67.09 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG10166 31 32 30
  • 65.68 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea dpm-1 31 30
  • 64.07 (n)
 OneToOne
Y66H1A.2 32
  • 64 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DPM1 33 31
  • 28 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G20575 30
  • 61.32 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0824400 30
  • 63.69 (n)
Os.7448 30
barley
(Hordeum vulgare)
 Liliopsida Hv.7423 30
wheat
(Triticum aestivum)
 Liliopsida Ta.617 30
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.2945 31
  • 74 (a)
 OneToOne
Cin.2411 30
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes dpm1 30
  • 60.94 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU07965 30
  • 55.46 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2411 30
Species where no ortholog for DPM1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DPM1: view image

Paralogs for DPM1 Gene

Paralogs for DPM1 Gene

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

Variants for DPM1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPM1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
639400 Uncertain Significance: Congenital disorder of glycosylation type 1E 50,955,274(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642386 Uncertain Significance: Congenital disorder of glycosylation type 1E 50,955,279(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642739 Uncertain Significance: Congenital disorder of glycosylation type 1E 50,958,499(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
644187 Uncertain Significance: Congenital disorder of glycosylation type 1E 50,958,412(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
650050 Uncertain Significance: Congenital disorder of glycosylation type 1E 50,935,152(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for DPM1 Gene

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

Variant ID Type Subtype PubMed ID
esv3646049 CNV gain 21293372
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)

Additional Variant Information for DPM1 Gene

Human Gene Mutation Database (HGMD)
DPM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for DPM1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for DPM1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ie
  • congenital disorder of glycosylation, type iy
primary polycythemia
  • polycythemia, primary familial and congenital
acquired polycythemia
  • polycythemia, secondary
multiple personality disorder
  • dissociative identity disorder
recurrent respiratory papillomatosis
  • adult-onset recurrent respiratory papillomatosis
- 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 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. {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.

Additional Disease Information for DPM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Human and Saccharomyces cerevisiae dolichol phosphate mannose synthases represent two classes of the enzyme, but both function in Schizosaccharomyces pombe. (PMID: 9223280) Colussi PA … Orlean P (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 54
  3. Congenital disorder of glycosylation (CDG) type Ie. A new patient. (PMID: 15669674) García-Silva MT … Briones P (Journal of inherited metabolic disease 2004) 3 4 23 54
  4. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PMID: 10835346) Maeda Y … Kinoshita T (The EMBO journal 2000) 3 4 23 54
  5. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) (PMID: 10642597) Kim S … Freeze HH (The Journal of clinical investigation 2000) 3 4 23 54

ExternalLinks

View latest publications for DPM1 gene in Mastermind

Products for DPM1 Gene

  • Addgene plasmids for DPM1