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Gene

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

Summary

Cytogenetic location
20q13.13
Coordinates
Chromosome 20: 50,934,870–50,958,532 (GRCh38)
Exons
9 exons across 23.7 kb
Protein
260 amino acids
Also known as
MPDS, CDGIE
MANE Select transcript
ENST00000371588.10NM_003859.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Congenital Disorders of Glycosylation

      • Congenital Disorders of Glycosylation (CDG)

        One of 98 genes linked to it

        A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong

    How DPM1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 20, with a bracket where DPM1 sits. DPM1 and 8 genes near it on chromosome 20, from 50,446,701 to 51,446,700.Chromosome 2020q13.13p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3350.6 Mb50.8 Mb51 Mb51.2 Mb51.4 MbPTPN1: 50,510,321–50,585,241, forward strandPTPN1RIPOR3: 50,585,180–50,692,021, reverse strandRIPOR3PARD6B: 50,731,365–50,756,836, forward strandPARD6BBCAS4: 50,794,894–50,877,179, forward strandBCAS4ADNP: 50,854,048–50,931,437, reverse strandADNPDPM1: 50,934,870–50,958,532, reverse strandDPM1MOCS3: 50,958,818–50,963,929, forward strandMOCS3KCNG1: 51,003,655–51,023,244, reverse strandKCNG1NFATC2: 51,386,957–51,563,072, reverse strandNFATC2Diagram of DPM1: 9 exons on the reverse strand of chromosome 20Exon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 9: 50,934,870–50,935,236, 367 basesExon 8: 50,936,148–50,936,262, 115 basesExon 7: 50,940,865–50,940,933, 69 basesExon 6: 50,942,031–50,942,126, 96 basesExon 5: 50,945,737–50,945,762, 26 basesExon 4: 50,945,847–50,945,923, 77 basesExon 3: 50,948,629–50,948,662, 34 basesExon 2: 50,955,186–50,955,285, 100 basesExon 1: 50,958,363–50,958,532, 170 bases9864215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 1.1 kb of the gene's 23.7 kb; 783 of those bases code for the protein.

    How a genome test reads DPM1

    18

    positions in DPM1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 23.7 kb of DPM1, introns included, not only the 1.1 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). DPM1 gene: dolichyl-phosphate mannosyltransferase subunit 1, catalytic. Retrieved 17 October 2026, from https://dantelabs.com/genes/dpm1

    Vancouver

    Dante Labs. DPM1 gene: dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dpm1

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