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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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

Dsel (e-PCR), detects polymorphism
- UniSTS:547396

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

Go to the top of the page Help

Preferred Names: dermatan-sulfate epimerase-like protein

NP_001074785.1

EC 5.1.3.19

XP_017176672.1

EC 5.1.3.19

XP_030110808.1

EC 5.1.3.19

XP_036021587.1

EC 5.1.3.19

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)

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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

111786431..111792782 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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