Human Gene DPM1 (ENST00000371588.10_6) from GENCODE V47lift37
  Description: dolichyl-phosphate mannosyltransferase subunit 1, catalytic, transcript variant 3 (from RefSeq NM_003859.3)
Gencode Transcript: ENST00000371588.10_6
Gencode Gene: ENSG00000000419.14_13
Transcript (Including UTRs)
   Position: hg19 chr20:49,551,407-49,575,069 Size: 23,663 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr20:49,551,669-49,575,060 Size: 23,392 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:49,551,407-49,575,069)mRNA (may differ from genome)Protein (260 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPM1_HUMAN
DESCRIPTION: RecName: Full=Dolichol-phosphate mannosyltransferase; EC=2.4.1.83; AltName: Full=Dolichol-phosphate mannose synthase; Short=DPM synthase; AltName: Full=Dolichyl-phosphate beta-D-mannosyltransferase; AltName: Full=Mannose-P-dolichol synthase; Short=MPD synthase;
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 ACTIVITY: GDP-mannose + dolichyl phosphate = GDP + dolichyl D-mannosyl phosphate.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Endoplasmic reticulum.
DISEASE: Defects in DPM1 are the cause of congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1E is an autosomal recessive disorder, characterized by severe developmental delay, hypotnia, seizures, and dysmorphic features.
SIMILARITY: Belongs to the glycosyltransferase 2 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DPM1";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DPM1
Diseases sorted by gene-association score: congenital disorder of glycosylation, type ie* (1579), congenital disorder of glycosylation, type iy* (283), ssr4-cdg* (283), epileptic encephalopathy, early infantile, 36* (231), multiple personality disorder (11), facial neuralgia (11), dissociative disorder (11), myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 (11), erythrocytosis, somatic (5), duane-radial ray syndrome (5), polycythemia vera, somatic (2), myelofibrosis with myeloid metaplasia, somatic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1039.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -48.90262-0.187 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001173 - Glyco_trans_2

Pfam Domains:
PF00535 - Glycosyl transferase family 2
PF13641 - Glycosyltransferase like family 2

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on O60762
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity
GO:0004582 dolichyl-phosphate beta-D-mannosyltransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0006486 protein glycosylation
GO:0006506 GPI anchor biosynthetic process
GO:0019348 dolichol metabolic process
GO:0035268 protein mannosylation
GO:0035269 protein O-linked mannosylation

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0033185 dolichol-phosphate-mannose synthase complex


-  Descriptions from all associated GenBank mRNAs
  D86198 - Homo sapiens hDPM1 mRNA for dolichol-phosphate-mannose synthase, complete cds.
AF007875 - Homo sapiens dolichol monophosphate mannose synthase (DPM1) mRNA, partial cds.
BC016322 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit, mRNA (cDNA clone MGC:23702 IMAGE:4083041), complete cds.
BC007073 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit, mRNA (cDNA clone MGC:12544 IMAGE:3997453), complete cds.
BC008427 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit, mRNA (cDNA clone IMAGE:4282974), partial cds.
BC008466 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit, mRNA (cDNA clone MGC:14731 IMAGE:4276338), complete cds.
AK289569 - Homo sapiens cDNA FLJ75990 complete cds, highly similar to Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.
JD020430 - Sequence 1454 from Patent EP1572962.
JD031848 - Sequence 12872 from Patent EP1572962.
CR456926 - Homo sapiens full open reading frame cDNA clone RZPDo834E1215D for gene DPM1, dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit; complete cds, incl. stopcodon.
CU678969 - Synthetic construct Homo sapiens gateway clone IMAGE:100016915 5' read DPM1 mRNA.
HQ447146 - Synthetic construct Homo sapiens clone IMAGE:100070434; CCSB005719_02 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1) gene, encodes complete protein.
KJ897914 - Synthetic construct Homo sapiens clone ccsbBroadEn_07308 DPM1 gene, encodes complete protein.
KJ897915 - Synthetic construct Homo sapiens clone ccsbBroadEn_07309 DPM1 gene, encodes complete protein.
KR710209 - Synthetic construct Homo sapiens clone CCSBHm_00010348 DPM1 (DPM1) mRNA, encodes complete protein.
KR710210 - Synthetic construct Homo sapiens clone CCSBHm_00010349 DPM1 (DPM1) mRNA, encodes complete protein.
KU178444 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit isoform 1 (DPM1) mRNA, partial cds.
KU178445 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit isoform 2 (DPM1) mRNA, partial cds, alternatively spliced.
KU178446 - Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit isoform 3 (DPM1) mRNA, complete cds, alternatively spliced.
JD026067 - Sequence 7091 from Patent EP1572962.
JD022316 - Sequence 3340 from Patent EP1572962.
JD030299 - Sequence 11323 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS - protein N-glycosylation initial phase (eukaryotic)
PWY-7922 - protein O-mannosylation II (mammals, core M1 and core M2)
PWY-7979 - protein O-mannosylation III (mammals, core M3)

Reactome (by CSHL, EBI, and GO)

Protein O60762 (Reactome details) participates in the following event(s):

R-HSA-162721 dolichyl phosphate + GDP-alpha-D-mannose -> dolichyl phosphate D-mannose
R-HSA-162699 Synthesis of dolichyl-phosphate mannose
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-597592 Post-translational protein modification
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-392499 Metabolism of proteins
R-HSA-446203 Asparagine N-linked glycosylation

-  Other Names for This Gene
  Alternate Gene Symbols: DPM1_HUMAN, ENST00000371588.1, ENST00000371588.2, ENST00000371588.3, ENST00000371588.4, ENST00000371588.5, ENST00000371588.6, ENST00000371588.7, ENST00000371588.8, ENST00000371588.9, NM_003859, O15157, O60762, Q6IB78, Q96HK0, uc318jgl.1, uc318jgl.2
UCSC ID: ENST00000371588.10_6
RefSeq Accession: NM_003859.3
Protein: O60762 (aka DPM1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DPM1:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.