Glce glucuronyl C5-epimerase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Glceprovided by MGI
Official Full Name: glucuronyl C5-epimeraseprovided by MGI
Primary source: MGI:MGI:2136405
See related: Ensembl:ENSMUSG00000032252 AllianceGenome:MGI:2136405
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: Hsepi; 1110017N23Rik; C130034A12Rik
Summary: Enables heparosan-N-sulfate-glucuronate 5-epimerase activity. Involved in heparan sulfate proteoglycan biosynthetic process and heparin biosynthetic process. Located in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in cerebrovascular disease and hypertension. Orthologous to human GLCE (glucuronic acid epimerase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 5.6), cerebellum adult (RPKM 4.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 B; 9 33.56 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (61964526..62029891, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (62057244..62122609, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Hepatic glucuronyl C5-epimerase combats obesity by stabilising GDF15.
Title: Hepatic glucuronyl C5-epimerase combats obesity by stabilising GDF15.
Glucuronyl C5-epimerase is crucial for epithelial cell maturation during embryonic lung development.
Title: Glucuronyl C5-epimerase is crucial for epithelial cell maturation during embryonic lung development.
The results suggest that Glucuronyl C5-epimerase expression modulates bone morphogenetic protein signaling activity, which is associated with defected molecular structure of heparan sulfate expressed in the cells.
Title: Upregulated BMP-Smad signaling activity in the glucuronyl C5-epimerase knock out MEF cells.
Results found that loss of Glce leads to a delayed onset of hypertrophic differentiation combined with an expanded region of proliferating chondrocytes indicating increased Ihh signaling.
Title: Altered heparan sulfate structure in Glce(-/-) mice leads to increased Hedgehog signaling in endochondral bones.
analysis of the activity of heparan sulfate C5-epimerase and its mutants by using engineered 2-O-sulfotransferase
Title: Using engineered 2-O-sulfotransferase to determine the activity of heparan sulfate C5-epimerase and its mutants.
modification of heparan sulfate by glucuronyl C5-epimerase is required for controlling the activity of molecules that are instructive for early lymphoid tissue morphogenesis
Title: Impaired lymphoid organ development in mice lacking the heparan sulfate modifying enzyme glucuronyl C5-epimerase.
NDST-1 and C5-epimerase have roles in heparan sulfate structure alterations in mouse tissue
Title: Heparan sulfate structure in mice with genetically modified heparan sulfate production.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91714 (e-PCR)
- UniSTS:90296

AI747411 (e-PCR)
- UniSTS:179918

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables UDP-glucuronate 5'-epimerase activity	TAS Traceable Author Statement more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables heparosan-N-sulfate-glucuronate 5-epimerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables heparosan-N-sulfate-glucuronate 5-epimerase activity	IDA Inferred from Direct Assay more info	PubMed
enables heparosan-N-sulfate-glucuronate 5-epimerase activity	ISO Inferred from Sequence Orthology more info
enables heparosan-N-sulfate-glucuronate 5-epimerase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables racemase and epimerase activity, acting on carbohydrates and derivatives	IDA Inferred from Direct Assay more info	PubMed
enables racemase and epimerase activity, acting on carbohydrates and derivatives	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in heparan sulfate proteoglycan biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in heparan sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell projection organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: D-glucuronyl C5-epimerase

Names: heparan sulfate C5-epimerase; heparan sulfate-glucuronic acid C5-epimerase; heparin sulfate C5-epimerase; heparin/heparan sulfate:glucuronic acid C5-epimerase; heparosan-N-sulfate-glucuronate 5-epimerase

NP_001355233.1

EC 5.1.3.17

NP_201577.3

EC 5.1.3.17

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)

NM_001368304.1 → NP_001355233.1 D-glucuronyl C5-epimerase

Status: VALIDATED

Source sequence(s)

AC123610

Consensus CDS

CCDS23262.1

UniProtKB/Swiss-Prot

Q505E6, Q99MM0, Q9EPS3

Related

ENSMUSP00000034785.8, ENSMUST00000034785.8
NM_033320.5 → NP_201577.3 D-glucuronyl C5-epimerase

Status: VALIDATED

Source sequence(s)

AC123610

Consensus CDS

CCDS23262.1

UniProtKB/Swiss-Prot

Q505E6, Q99MM0, Q9EPS3

Related

ENSMUSP00000139949.2, ENSMUST00000185675.7

Conserved Domains (1) summary

pfam06662
Location:417 → 608

C5-epim_C; D-glucuronyl C5-epimerase C-terminus