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    Dse dermatan sulfate epimerase [ Mus musculus (house mouse) ]

    Gene ID: 212898, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dseprovided by MGI
    Official Full Name
    dermatan sulfate epimeraseprovided by MGI
    Primary source
    MGI:MGI:2443455
    See related
    Ensembl:ENSMUSG00000039497 AllianceGenome:MGI:2443455
    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
    Sart2; DS-epi1; 6030499O08; B130024B19Rik
    Summary
    Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate biosynthetic process. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including brain; cardiovascular system; endocrine gland; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome musculocontractural type 2. Orthologous to human DSE (dermatan sulfate epimerase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 9.9), subcutaneous fat pad adult (RPKM 8.3) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Dse in Genome Data Viewer
    Location:
    10 B1; 10 18.85 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (34027385..34084267, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (34151389..34208282, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex 3 like Neighboring gene calcium homeostasis modulator family member 5 Neighboring gene STARR-positive B cell enhancer ABC_E11433 Neighboring gene calcium homeostasis modulator family member 6 Neighboring gene STARR-seq mESC enhancer starr_26265 Neighboring gene predicted gene, 18346 Neighboring gene STARR-seq mESC enhancer starr_26267 Neighboring gene predicted gene, 26564 Neighboring gene STARR-seq mESC enhancer starr_26272 Neighboring gene STARR-positive B cell enhancer ABC_E8330 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:34001757-34001940 Neighboring gene testis-specific protein, Y-encoded-like 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables chondroitin-glucuronate 5-epimerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in chondroitin sulfate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondroitin sulfate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dermatan sulfate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dermatan sulfate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in dermatan sulfate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heparan sulfate proteoglycan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dermatan-sulfate epimerase
    Names
    DS epimerase
    chondroitin-glucuronate 5-epimerase
    squamous cell carcinoma antigen recognized by T cells 2
    NP_766096.1
    XP_006512714.1
    XP_006512715.1
    XP_011241458.1
    XP_036011615.1
    XP_036011616.1

    NCBI Reference Sequences (RefSeq)

    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_172508.3NP_766096.1  dermatan-sulfate epimerase precursor

      See identical proteins and their annotated locations for NP_766096.1

      Status: VALIDATED

      Source sequence(s)
      BC053095, CJ269977
      Consensus CDS
      CCDS23776.1
      UniProtKB/Swiss-Prot
      Q3U620, Q8BLI4
      Related
      ENSMUSP00000040074.8, ENSMUST00000048010.9

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      34027385..34084267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006512652.4XP_006512715.1  dermatan-sulfate epimerase isoform X2

    2. XM_036155723.1XP_036011616.1  dermatan-sulfate epimerase isoform X3

    3. XM_006512651.5XP_006512714.1  dermatan-sulfate epimerase isoform X1

      See identical proteins and their annotated locations for XP_006512714.1

      UniProtKB/Swiss-Prot
      Q3U620, Q8BLI4
    4. XM_036155722.1XP_036011615.1  dermatan-sulfate epimerase isoform X1

      UniProtKB/Swiss-Prot
      Q3U620, Q8BLI4
    5. XM_011243156.4XP_011241458.1  dermatan-sulfate epimerase isoform X1

      See identical proteins and their annotated locations for XP_011241458.1

      UniProtKB/Swiss-Prot
      Q3U620, Q8BLI4