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

Gene ID: 212898, updated on 21-Apr-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, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 9.9), subcutaneous fat pad adult (RPKM 8.3) and 24 other tissues See more
Orthologs
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Genomic context

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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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 ISO
Inferred from Sequence Orthology
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding 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
 
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
 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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_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