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

Gene ID: 24070, updated on 21-Apr-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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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

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