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Gene

MPDU1

mannose-P-dolichol utilization defect 1

Summary

Cytogenetic location
17p13.1
Coordinates
Chromosome 17: 7,583,852–7,588,212 (GRCh38)
Exons
7 exons across 4.4 kb
Protein
247 amino acids
Also known as
SL15, Lec35, PQLC5, CDGIf, SLC66A5
MANE Select transcript
ENST00000250124.11NM_004870.4
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 MPDU1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 17, with a bracket where MPDU1 sits. MPDU1 and 65 genes near it on chromosome 17, from 7,086,032 to 8,086,031.Chromosome 1717p13.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.37.2 Mb7.4 Mb7.6 Mb7.8 Mb8 MbASGR2: 7,100,166–7,116,603, reverse strandASGR2ASGR1: 7,172,427–7,179,666, reverse strandASGR1DLG4: 7,187,187–7,219,836, reverse strandDLG4ACADVL: 7,217,125–7,225,273, forward strandDVL2: 7,225,338–7,234,538, reverse strandPHF23: 7,235,029–7,239,722, reverse strandGABARAP: 7,240,008–7,242,486, reverse strand: 7,240,427–7,244,635, reverse strandCTDNEP1: 7,243,583–7,252,841, reverse strand: 7,246,829–7,262,089, reverse strandELP5: 7,250,818–7,260,165, forward strandELP5CLDN7: 7,257,359–7,264,016, reverse strandCLDN7SLC2A4: 7,281,664–7,289,241, forward strandYBX2: 7,288,253–7,294,750, reverse strandYBX2EIF5A: 7,306,944–7,312,506, forward strandGPS2: 7,309,470–7,315,564, reverse strand: 7,312,661–7,319,174, reverse strandNEURL4: 7,315,628–7,329,393, reverse strandNEURL4ACAP1: 7,332,960–7,351,478, forward strandKCTD11: 7,351,889–7,354,944, forward strandKCTD11TMEM95: 7,355,123–7,357,219, forward strandTMEM95TNK1: 7,380,534–7,389,779, forward strandTNK1PLSCR3: 7,389,727–7,397,054, reverse strandPLSCR3TMEM256-PLSCR3: 7,389,734–7,404,097, reverse strandTMEM256: 7,402,774–7,404,138, reverse strandNLGN2: 7,404,684–7,419,860, forward strandSPEM1: 7,420,323–7,421,637, forward strandSPEM2: 7,425,563–7,427,568, forward strandSPEM3: 7,428,857–7,432,820, forward strand: 7,428,861–7,436,278, forward strandTMEM102: 7,435,344–7,437,679, forward strandFGF11: 7,438,128–7,444,937, forward strandFGF11CHRNB1: 7,445,004–7,457,710, forward strandCHRNB1ZBTB4: 7,459,366–7,484,278, reverse strandZBTB4SLC35G6: 7,481,446–7,483,496, forward strandSLC35G6POLR2A: 7,484,366–7,514,616, forward strandPOLR2ATNFSF12: 7,548,508–7,557,890, forward strandTNFSF12-TNFSF13: 7,549,099–7,561,601, forward strandTNFSF13: 7,558,251–7,561,660, forward strandSENP3: 7,561,867–7,571,969, forward strandSENP3-EIF4A1: 7,563,287–7,578,715, forward strandEIF4A1: 7,572,718–7,579,007, forward strandEIF4A1CD68: 7,579,380–7,582,515, forward strandCD68MPDU1: 7,583,852–7,588,212, forward strandMPDU1SOX15: 7,588,178–7,590,101, reverse strandSOX15FXR2: 7,591,230–7,614,916, reverse strandSHBG: 7,613,946–7,633,469, forward strandSAT2: 7,626,234–7,627,879, reverse strandATP1B2: 7,646,627–7,657,771, forward strandATP1B2TP53: 7,661,779–7,687,546, reverse strandTP53WRAP53: 7,686,071–7,703,505, forward strandWRAP53EFNB3: 7,705,172–7,711,372, forward strandEFNB3DNAH2: 7,717,728–7,833,742, forward strandDNAH2KDM6B: 7,834,193–7,854,808, forward strandKDM6BTMEM88: 7,855,057–7,856,114, forward strandTMEM88NAA38: 7,856,681–7,885,238, reverse strandNAA38CYB5D1: 7,857,696–7,862,282, forward strandCYB5D1CHD3: 7,884,787–7,912,760, forward strandCHD3RNF227: 7,913,238–7,916,377, reverse strandKCNAB3: 7,920,956–7,929,856, reverse strandKCNAB3: 7,925,931–7,930,622, reverse strandTRAPPC1: 7,930,345–7,932,123, reverse strandTRAPPC1CNTROB: 7,932,101–7,949,953, forward strandGUCY2D: 8,002,615–8,020,342, forward strandGUCY2DALOX15B: 8,039,011–8,049,134, forward strandALOX15BALOX12B: 8,068,594–8,087,716, reverse strandALOX12BDiagram of MPDU1: 7 exons on the forward strand of chromosome 17Exon 1: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 1: 7,583,852–7,583,965, 114 basesExon 2: 7,585,732–7,585,797, 66 basesExon 3: 7,585,946–7,586,078, 133 basesExon 4: 7,586,692–7,586,777, 86 basesExon 5: 7,586,899–7,587,017, 119 basesExon 6: 7,587,161–7,587,271, 111 basesExon 7: 7,587,426–7,588,212, 787 bases12345675′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 1.4 kb of the gene's 4.4 kb; 744 of those bases code for the protein.

    How a genome test reads MPDU1

    8

    positions in MPDU1 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 4.4 kb of MPDU1, introns included, not only the 1.4 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.). MPDU1 gene: mannose-P-dolichol utilization defect 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/mpdu1

    Vancouver

    Dante Labs. MPDU1 gene: mannose-P-dolichol utilization defect 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mpdu1

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