U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Dsel dermatan sulfate epimerase-like [ Mus musculus (house mouse) ]

    Gene ID: 319901, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Dselprovided by MGI
    Official Full Name
    dermatan sulfate epimerase-likeprovided by MGI
    Primary source
    MGI:MGI:2442948
    See related
    Ensembl:ENSMUSG00000038702 AllianceGenome:MGI:2442948
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DS-epi2; 9330132E09Rik
    Summary
    Enables chondroitin-glucuronate 5-epimerase activity. Acts upstream of or within chondroitin sulfate metabolic process and dermatan sulfate metabolic process. Predicted to be located in membrane. Is expressed in eye. Orthologous to human DSEL (dermatan sulfate epimerase like). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 4.2), bladder adult (RPKM 2.7) and 25 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Dsel in Genome Data Viewer
    Location:
    1 E2.1; 1 50.84 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (111786431..111792782, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (111858701..111865052, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4921525D07 gene Neighboring gene STARR-seq mESC enhancer starr_01898 Neighboring gene STARR-seq mESC enhancer starr_01899 Neighboring gene STARR-seq mESC enhancer starr_01901 Neighboring gene STARR-seq mESC enhancer starr_01902 Neighboring gene STARR-seq mESC enhancer starr_01903 Neighboring gene STARR-seq mESC enhancer starr_01904 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene Neighboring gene STARR-seq mESC enhancer starr_01905 Neighboring gene ribosomal protein L9 pseudogene Neighboring gene STARR-seq mESC enhancer starr_01906 Neighboring gene STARR-seq mESC enhancer starr_01907 Neighboring gene CCR4-NOT transcription complex, subunit 1 pseudogene

    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: 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Dermatan sulfate epimerase 2 is the predominant isozyme in the formation of the chondroitin sulfate/dermatan sulfate hybrid structure in postnatal developing mouse brain. Akatsu C, et al. Glycobiology, 2011 May. PMID 21177331
    2. Iduronic acid in chondroitin/dermatan sulfate affects directional migration of aortic smooth muscle cells. Bartolini B, et al. PLoS One, 2013. PMID 23843960, Free PMC Article
    3. Mouse development is not obviously affected by the absence of dermatan sulfate epimerase 2 in spite of a modified brain dermatan sulfate composition. Bartolini B, et al. Glycobiology, 2012 Jul. PMID 22496542
    4. Biological functions of iduronic acid in chondroitin/dermatan sulfate. Thelin MA, et al. FEBS J, 2013 May. PMID 23441919, Free PMC Article
    5. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. Zayed H, et al. Am J Med Genet A, 2010 Apr. PMID 20358601, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that dermatan sulfate is completely absent in dermatan sulfate epimerase 1 and 2 double knockout (DKO) mice.
      Title: Dermatan Sulfate-Free Mice Display Embryological Defects and Are Neonatal Lethal Despite Normal Lymphoid and Non-Lymphoid Organogenesis.
    2. DS-epi1 deficiency results in a major reduction of iduronic acid both on cell surface and in secreted CS/DS proteoglycans and affects directional migration of aortic smooth muscle cells.
      Title: Iduronic acid in chondroitin/dermatan sulfate affects directional migration of aortic smooth muscle cells.
    3. DS-epi2-deficient mice showed no anatomical, histological or morphological abnormalities and DS-epi1 likely compensates in vivo for the loss of DS-epi2
      Title: Mouse development is not obviously affected by the absence of dermatan sulfate epimerase 2 in spite of a modified brain dermatan sulfate composition.
    4. the iduronic acid-containing structures in the developing brain are mainly produced by the actions of dermatan sulfate epimerase 2 and play crucial roles in postnatal development
      Title: Dermatan sulfate epimerase 2 is the predominant isozyme in the formation of the chondroitin sulfate/dermatan sulfate hybrid structure in postnatal developing mouse brain.
    5. DSEL was selected for study in 125 patients with diaphragmatic hernias, as it is involved in the synthesis of decorin, a protein that is required for normal collagen formation and that is upregulated during myogenesis.
      Title: A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.
    Submit: New GeneRIF Correction

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chondroitin-glucuronate 5-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chondroitin-glucuronate 5-epimerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sulfotransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chondroitin sulfate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within chondroitin sulfate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dermatan sulfate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within dermatan sulfate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    dermatan-sulfate epimerase-like protein
    NP_001074785.1
    XP_017176672.1
    XP_030110808.1
    XP_036021587.1

    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.

    mRNA and Protein(s)

    1. NM_001081316.2 → NP_001074785.1  dermatan-sulfate epimerase-like protein precursor

      See identical proteins and their annotated locations for NP_001074785.1

      Status: VALIDATED

      Source sequence(s)
      AC125403
      Consensus CDS
      CCDS35688.1
      UniProtKB/Swiss-Prot
      B2RQ79, Q0VBN2
      Related
      ENSMUSP00000043570.6, ENSMUST00000035462.7
      Conserved Domains (1) summary
      cl21551
      Location:1089 → 1146
      Sulfotransfer_3; Sulfotransferase family

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      111786431..111792782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254948.1 → XP_030110808.1  dermatan-sulfate epimerase-like protein isoform X1

      UniProtKB/Swiss-Prot
      B2RQ79, Q0VBN2
      Conserved Domains (1) summary
      cl21551
      Location:1089 → 1146
      Sulfotransfer_3; Sulfotransferase family

    2. XM_036165694.1 → XP_036021587.1  dermatan-sulfate epimerase-like protein isoform X1

      UniProtKB/Swiss-Prot
      B2RQ79, Q0VBN2
      Conserved Domains (1) summary
      cl21551
      Location:1089 → 1146
      Sulfotransfer_3; Sulfotransferase family

    3. XM_017321183.3 → XP_017176672.1  dermatan-sulfate epimerase-like protein isoform X1

      UniProtKB/Swiss-Prot
      B2RQ79, Q0VBN2
      Conserved Domains (1) summary
      cl21551
      Location:1089 → 1146
      Sulfotransfer_3; Sulfotransferase family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VBN2.1 GenPept UniProtKB/Swiss-Prot:Q0VBN2

    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