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

Gene ID: 319901, updated on 5-Mar-2024

Summary

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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. Predicted to be integral component of membrane. Is expressed in eye. Orthologous to human DSEL (dermatan sulfate epimerase like). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in limb E14.5 (RPKM 4.2), bladder adult (RPKM 2.7) and 25 other tissues See more
Orthologs
human all
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Genomic context

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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

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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. 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

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Alleles

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

General gene information

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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 isomerase activity IEA
Inferred from Electronic Annotation
more info
  
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

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Preferred Names
dermatan-sulfate epimerase-like protein
NP_001074785.1
XP_017176672.1
XP_030110808.1
XP_036021587.1

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_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

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