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

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: human all
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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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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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

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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.
The combination of defective collagen structure in the dermis and imbalanced keratinocyte maturation could be responsible for the observed developmental defects in DS-epi1-deficient mice.
Title: Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects.
DS-epi1-deficient mice show chondroitin sulfate /dermatan sulfate with a marked deficiency in iduronic acid-containing structures.
Title: Dermatan sulfate epimerase 1-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236325

NoName (e-PCR)
- UniSTS:236327

D10Mit252 (e-PCR), detects polymorphism
- UniSTS:126158

AI480506 (e-PCR)
- UniSTS:159967

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

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Preferred Names: dermatan-sulfate epimerase

Names: DS epimerase; chondroitin-glucuronate 5-epimerase; squamous cell carcinoma antigen recognized by T cells 2

NP_766096.1

EC 5.1.3.19

XP_006512714.1

EC 5.1.3.19

XP_006512715.1

EC 5.1.3.19

XP_011241458.1

EC 5.1.3.19

XP_036011615.1

EC 5.1.3.19

XP_036011616.1

EC 5.1.3.19

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.