U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory [ Homo sapiens (human) ]

    Gene ID: 54344, updated on 11-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    DPM3provided by HGNC
    Official Full Name
    dolichyl-phosphate mannosyltransferase subunit 3, regulatoryprovided by HGNC
    Primary source
    HGNC:HGNC:3007
    See related
    Ensembl:ENSG00000179085 MIM:605951; AllianceGenome:HGNC:3007
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG1O; MDDGB15; MDDGC15
    Summary
    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]
    Expression
    Ubiquitous expression in fat (RPKM 20.5), colon (RPKM 20.2) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    1q22
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155139891..155140531, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154279249..154279889, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155112367..155113007, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ephrin A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1394 Neighboring gene solute carrier family 50 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1808 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1395 Neighboring gene keratinocyte associated protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155145543-155146051

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Nagy S, et al. Clin Genet, 2022 Dec. PMID 35932216, Free PMC Article
    2. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. van Tol W, et al. J Inherit Metab Dis, 2019 Sep. PMID 30931530
    3. Dolichol-phosphate-mannose-3 (DPM3)/prostin-1 is a novel phospholipase C-gamma regulated gene negatively associated with prostate tumor invasion. Manos EJ, et al. Oncogene, 2001 May 17. PMID 11420690
    4. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Yang AC, et al. Mol Genet Metab, 2013 Nov. PMID 23856421, Free PMC Article
    5. PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. Maeda Y, et al. EMBO J, 2001 Jan 15. PMID 11226175, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
      Title: A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
    2. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
      Title: Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC34275, MGC125904, MGC125905

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in GPI anchor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in dolichol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein O-linked mannosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein mannosylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of protein stability IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of dolichol-phosphate-mannose synthase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of dolichol-phosphate-mannose synthase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of dolichol-phosphate-mannose synthase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of mannosyltransferase complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    dolichol-phosphate mannosyltransferase subunit 3
    Names
    DPM synthase complex subunit 3
    DPM synthase subunit 3
    MPD synthase subunit 3
    dolichol-phosphate mannose synthase subunit 3
    dolichyl-phosphate beta-D-mannosyltransferase subunit 3
    dolichyl-phosphate mannosyltransferase polypeptide 3
    mannose-P-dolichol synthase subunit 3
    prostin 1
    testicular tissue protein Li 58
    NP_061846.2
    NP_714963.1
    XP_016856987.1
    XP_054193079.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012871.1 RefSeqGene

      Range
      4990..5630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018973.4 → NP_061846.2  dolichol-phosphate mannosyltransferase subunit 3 isoform 1

      See identical proteins and their annotated locations for NP_061846.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL691442
      Consensus CDS
      CCDS1094.1
      UniProtKB/TrEMBL
      A0A140VJI4
      Related
      ENSP00000357384.1, ENST00000368399.1
      Conserved Domains (1) summary
      pfam08285
      Location:37 → 121
      DPM3; Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)

    2. NM_153741.2 → NP_714963.1  dolichol-phosphate mannosyltransferase subunit 3 isoform 2

      See identical proteins and their annotated locations for NP_714963.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and 5' coding region, compared to variant 1. This results in translation initiation from a downstream ATG and an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL691442
      Consensus CDS
      CCDS1095.1
      UniProtKB/Swiss-Prot
      Q5SR62, Q5SR63, Q9BXN4, Q9BXN5, Q9P2X0
      UniProtKB/TrEMBL
      Q86TM7
      Related
      ENSP00000357385.5, ENST00000368400.5
      Conserved Domains (1) summary
      pfam08285
      Location:1 → 90
      DPM3; Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155139891..155140531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001498.2 → XP_016856987.1  dolichol-phosphate mannosyltransferase subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      Q5SR62, Q5SR63, Q9BXN4, Q9BXN5, Q9P2X0
      UniProtKB/TrEMBL
      Q86TM7
      Related
      ENSP00000344338.3, ENST00000341298.3
      Conserved Domains (1) summary
      pfam08285
      Location:1 → 90
      DPM3; Dolichol-phosphate mannosyltransferase subunit 3 (DPM3)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154279249..154279889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337104.1 → XP_054193079.1  dolichol-phosphate mannosyltransferase subunit 3 isoform X1

      UniProtKB/Swiss-Prot
      Q5SR62, Q5SR63, Q9BXN4, Q9BXN5, Q9P2X0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2X0.2 GenPept UniProtKB/Swiss-Prot:Q9P2X0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous