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Aliases for DPM3 Gene

Aliases for DPM3 Gene

  • Dolichyl-Phosphate Mannosyltransferase Subunit 3 2 3 5
  • Dolichyl-Phosphate Beta-D-Mannosyltransferase Subunit 3 3 4
  • Dolichyl-Phosphate Mannosyltransferase Polypeptide 3 2 3
  • Dolichol-Phosphate Mannose Synthase Subunit 3 3 4
  • Mannose-P-Dolichol Synthase Subunit 3 3 4
  • DPM Synthase Subunit 3 3 4
  • MPD Synthase Subunit 3 3 4
  • Dolichol-Phosphate Mannosyltransferase Subunit 3 3
  • Testicular Tissue Protein Li 58 3
  • DPM Synthase Complex Subunit 3 3
  • DPM Synthase Complex Subunit 2
  • Prostin 1 3
  • Prostin-1 4
  • CDG1O 3

External Ids for DPM3 Gene

Previous GeneCards Identifiers for DPM3 Gene

  • GC01M152991
  • GC01M150852
  • GC01M151887
  • GC01M152329
  • GC01M151925
  • GC01M153379
  • GC01M126474

Summaries for DPM3 Gene

Entrez Gene Summary for DPM3 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. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]

GeneCards Summary for DPM3 Gene

DPM3 (Dolichyl-Phosphate Mannosyltransferase Subunit 3) is a Protein Coding gene. Diseases associated with DPM3 include Congenital Disorder Of Glycosylation, Type Io and Walker-Warburg Syndrome. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include dolichyl-phosphate beta-D-mannosyltransferase activity.

UniProtKB/Swiss-Prot for DPM3 Gene

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

Gene Wiki entry for DPM3 Gene

Additional gene information for DPM3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPM3 Gene

Genomics for DPM3 Gene

GeneHancer (GH) Regulatory Elements for DPM3 Gene

Promoters and enhancers for DPM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J155138 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662.4 +0.6 633 2.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B DPM3 GBAP1 CLK2 SLC50A1
GH01J155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 41.7 -103.6 -103647 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA GON4L KHDC4 CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01J155222 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 23.5 -85.1 -85136 5.9 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZC3H11A MEF2D GBAP1 KHDC4 ENSG00000271267 MSTO1 GON4L MSTO2P CLK2 LOC101928120 RUSC1-AS1 ASH1L-AS1
GH01J154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 +136.1 136144 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 THBS3 RUSC1-AS1 SHC1 MSTO1
GH01J156111 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 -980.8 -980794 19.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 LMNA GON4L CLK2 KHDC4 RRNAD1 LOC246784 MSTO1 MSTO2P PRCC ENSG00000271267
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DPM3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DPM3 gene promoter:

Genomic Locations for DPM3 Gene

Genomic Locations for DPM3 Gene
chr1:155,139,891-155,140,595
(GRCh38/hg38)
Size:
705 bases
Orientation:
Minus strand
chr1:155,112,367-155,113,071
(GRCh37/hg19)

Genomic View for DPM3 Gene

Genes around DPM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPM3 Gene

Proteins for DPM3 Gene

  • Protein details for DPM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2X0-DPM3_HUMAN
    Recommended name:
    Dolichol-phosphate mannosyltransferase subunit 3
    Protein Accession:
    Q9P2X0
    Secondary Accessions:
    • Q5SR62
    • Q5SR63
    • Q9BXN4
    • Q9BXN5

    Protein attributes for DPM3 Gene

    Size:
    92 amino acids
    Molecular mass:
    10094 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for DPM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPM3 Gene

Post-translational modifications for DPM3 Gene

  • Glycosylation at Thr63
  • Modification sites at PhosphoSitePlus

Other Protein References for DPM3 Gene

No data available for DME Specific Peptides for DPM3 Gene

Domains & Families for DPM3 Gene

Gene Families for DPM3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for DPM3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9P2X0

UniProtKB/Swiss-Prot:

DPM3_HUMAN :
  • Belongs to the DPM3 family.
Family:
  • Belongs to the DPM3 family.
genes like me logo Genes that share domains with DPM3: view

Function for DPM3 Gene

Molecular function for DPM3 Gene

UniProtKB/Swiss-Prot Function:
Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER.

Phenotypes From GWAS Catalog for DPM3 Gene

Gene Ontology (GO) - Molecular Function for DPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004582 contributes_to dolichyl-phosphate beta-D-mannosyltransferase activity IDA 10835346
GO:0005515 protein binding IPI 10835346
genes like me logo Genes that share ontologies with DPM3: view
genes like me logo Genes that share phenotypes with DPM3: view

Human Phenotype Ontology for DPM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DPM3 Gene

MGI Knock Outs for DPM3:
  • Dpm3 Dpm3<tm1.1(KOMP)Vlcg>

Animal Model Products

miRNA for DPM3 Gene

miRTarBase miRNAs that target DPM3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DPM3 Gene

Localization for DPM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPM3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 DPM3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 10835346
GO:0005789 endoplasmic reticulum membrane TAS 16280320
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 10835346
genes like me logo Genes that share ontologies with DPM3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DPM3 Gene

Pathways & Interactions for DPM3 Gene

genes like me logo Genes that share pathways with DPM3: view

UniProtKB/Swiss-Prot Q9P2X0-DPM3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for DPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process NAS 10835346
GO:0006486 protein glycosylation IEA --
GO:0006506 GPI anchor biosynthetic process TAS 16280320
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0018406 protein C-linked glycosylation via 2-alpha-mannosyl-L-tryptophan TAS 16280320
genes like me logo Genes that share ontologies with DPM3: view

No data available for SIGNOR curated interactions for DPM3 Gene

Drugs & Compounds for DPM3 Gene

(1) Drugs for DPM3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0

(3) Additional Compounds for DPM3 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 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 DPM3: view

Transcripts for DPM3 Gene

mRNA/cDNA for DPM3 Gene

Unigene Clusters for DPM3 Gene

Dolichyl-phosphate mannosyltransferase polypeptide 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPM3 Gene

No ASD Table

Relevant External Links for DPM3 Gene

GeneLoc Exon Structure for
DPM3
ECgene alternative splicing isoforms for
DPM3

Expression for DPM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DPM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DPM3 Gene

This gene is overexpressed in Bone (18.6), Nasal epithelium (13.7), and Adrenal (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DPM3 Gene



Protein tissue co-expression partners for DPM3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DPM3 Gene:

DPM3

SOURCE GeneReport for Unigene cluster for DPM3 Gene:

Hs.110477

Evidence on tissue expression from TISSUES for DPM3 Gene

  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPM3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • liver
Limb:
  • lower limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DPM3: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DPM3 Gene

Orthologs for DPM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DPM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPM3 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DPM3 34 33
  • 90.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DPM3 34 33
  • 89.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dpm3 16 34 33
  • 85.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPM3 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPM3 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPM3 34
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dpm3 34 33
  • 57.88 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG33977 34
  • 39 (a)
OneToOne
Species where no ortholog for DPM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DPM3 Gene

ENSEMBL:
Gene Tree for DPM3 (if available)
TreeFam:
Gene Tree for DPM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPM3: view image

Paralogs for DPM3 Gene

Pseudogenes.org Pseudogenes for DPM3 Gene

genes like me logo Genes that share paralogs with DPM3: view

No data available for Paralogs for DPM3 Gene

Variants for DPM3 Gene

Sequence variations from dbSNP and Humsavar for DPM3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057518905 likely-pathogenic, Cardiomyopathy, EMG: myopathic abnormalities, Myopathy 155,140,104(-) A/T coding_sequence_variant, missense_variant
rs121908155 pathogenic, Congenital disorder of glycosylation type 1O, Congenital disorder of glycosylation 1O (CDG1O) [MIM:612937] 155,139,987(-) A/G coding_sequence_variant, missense_variant
rs193215070 uncertain-significance, benign, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1O 155,139,992(-) G/T coding_sequence_variant, synonymous_variant
rs773427971 uncertain-significance, Congenital disorder of glycosylation type 1O 155,140,062(-) C/A/T coding_sequence_variant, missense_variant
rs371295542 likely-benign, not specified 155,140,181(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for DPM3 Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv3587615 CNV gain 21293372
nsv464084 CNV loss 19166990
nsv509502 CNV insertion 20534489
nsv547961 CNV loss 21841781
nsv998756 CNV gain 25217958

Variation tolerance for DPM3 Gene

Residual Variation Intolerance Score: 42.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPM3 Gene

Human Gene Mutation Database (HGMD)
DPM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPM3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPM3 Gene

Disorders for DPM3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DPM3 Gene - From: OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type io
  • cdg1
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search DPM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPM3_HUMAN
  • Congenital disorder of glycosylation 1O (CDG1O) [MIM:612937]: 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. CDG1O patients have increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. {ECO:0000269 PubMed:19576565}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DPM3

genes like me logo Genes that share disorders with DPM3: view

No data available for Genatlas for DPM3 Gene

Publications for DPM3 Gene

  1. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3. (PMID: 10835346) Maeda Y … Kinoshita T (The EMBO journal 2000) 2 3 4 22 58
  2. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 44 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Dolichol-phosphate-mannose-3 (DPM3)/prostin-1 is a novel phospholipase C-gamma regulated gene negatively associated with prostate tumor invasion. (PMID: 11420690) Manos EJ … Jones DA (Oncogene 2001) 3 4 58
  5. UBE2S, a novel substrate of Akt1, associates with Ku70 and regulates DNA repair and glioblastoma multiforme resistance to chemotherapy. (PMID: 27593939) Hu L … Weng C (Oncogene 2017) 3 58

Products for DPM3 Gene

Sources for DPM3 Gene