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    Mpdu1 mannose-P-dolichol utilization defect 1 [ Mus musculus (house mouse) ]

    Gene ID: 24070, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mpdu1provided by MGI
    Official Full Name
    mannose-P-dolichol utilization defect 1provided by MGI
    Primary source
    MGI:MGI:1346040
    See related
    Ensembl:ENSMUSG00000018761 AllianceGenome:MGI:1346040
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    SL15; LEC35; Supl15h
    Summary
    This gene encodes a member of the PQ-loop superfamily. A similar gene in human encodes a protein that is required for monosaccharide-P-dolichol-dependent glycosyltransferase reactions, and disruption of this gene is the cause of congenital disorder of glycosylation (CDG) type 1F, a disease linked to defects in protein N-glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 64.5), adrenal adult (RPKM 54.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mpdu1 in Genome Data Viewer
    Location:
    11 B3; 11 42.86 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (69547523..69553475, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (69656697..69662649, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S15a pseudogene Neighboring gene FMR1 autosomal homolog 2 Neighboring gene microRNA 467f Neighboring gene SRY (sex determining region Y)-box 15 Neighboring gene STARR-positive B cell enhancer ABC_E3965 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:69476301-69476484 Neighboring gene microRNA 1934 Neighboring gene CD68 antigen

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. Schenk B, et al. J Clin Invest, 2001 Dec. PMID 11733564, Free PMC Article
    2. Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals. Anand M, et al. Mol Biol Cell, 2001 Feb. PMID 11179430, Free PMC Article
    3. Five different genes, Eif4a1, Cd68, Supl15h, Sox15 and Fxr2h, are clustered in a 40 kb region of mouse chromosome 11. Miyashita A, et al. Gene, 1999 Sep 3. PMID 10524236
    4. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. Boles MK, et al. PLoS Genet, 2009 Dec. PMID 20011118, Free PMC Article
    5. Single-cell architecture and functional requirement of alternative splicing during hematopoietic stem cell formation. Wang F, et al. Sci Adv, 2022 Jan 7. PMID 34995116, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. study of mutations in human ortholog of MPDU1
      Title: MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
    2. A functional study of Mpdu1 in hamster
      Title: Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (1) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in oligosaccharide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oligosaccharide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    mannose-P-dolichol utilization defect 1 protein
    Names
    suppressor of Lec15 and Lec35 glycosylation mutation homolog
    suppressor of Lec15 homolog (C.griseus)

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001301710.1 → NP_001288639.1  mannose-P-dolichol utilization defect 1 protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons which results in a frameshift in the 3' coding region compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK080233, AL603707, BE686800
      UniProtKB/TrEMBL
      F6XX36
      Related
      ENSMUSP00000120001.2, ENSMUST00000129224.8
      Conserved Domains (1) summary
      pfam04193
      Location:43 → 101
      PQ-loop; PQ loop repeat

    2. NM_001301711.1 → NP_001288640.1  mannose-P-dolichol utilization defect 1 protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and uses an in-frame downstream start codon, compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK080233, AL603707, BE686800, CV561188
      UniProtKB/TrEMBL
      Q8R0J2
      Conserved Domains (2) summary
      smart00679
      Location:47 → 78
      CTNS; Repeated motif present between transmembrane helices in cystinosin, yeast ERS1p, mannose-P-dolichol utilization defect 1, and other hypothetical proteins
      TIGR00951
      Location:1 → 115
      2A43; Lysosomal Cystine Transporter

    3. NM_011900.4 → NP_036030.2  mannose-P-dolichol utilization defect 1 protein isoform 1

      See identical proteins and their annotated locations for NP_036030.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK080233, AL603707, BE686800
      Consensus CDS
      CCDS24903.1
      UniProtKB/Swiss-Prot
      O70203, Q9R0P7, Q9R0Q9
      UniProtKB/TrEMBL
      Q8R0J2
      Related
      ENSMUSP00000018905.6, ENSMUST00000018905.12
      Conserved Domains (3) summary
      smart00679
      Location:167 → 198
      CTNS; Repeated motif present between transmembrane helices in cystinosin, yeast ERS1p, mannose-P-dolichol utilization defect 1, and other hypothetical proteins
      TIGR00951
      Location:40 → 235
      2A43; Lysosomal Cystine Transporter
      pfam04193
      Location:43 → 101
      PQ-loop; PQ loop repeat

    RNA

    1. NR_125917.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK080233, AL603707, BE686800, CV561394, W67006

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      69547523..69553475 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R0Q9.1 GenPept UniProtKB/Swiss-Prot:Q9R0Q9

    Gene LinkOut

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

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