Egln3 egl-9 family hypoxia-inducible factor 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Egln3provided by MGI
Official Full Name: egl-9 family hypoxia-inducible factor 3provided by MGI
Primary source: MGI:MGI:1932288
See related: Ensembl:ENSMUSG00000035105 AllianceGenome:MGI:1932288
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: Phd3; SM-20; Hif-p4h-3; 2610021G09Rik
Summary: Enables peptidyl-proline dioxygenase activity. Involved in regulation of cell population proliferation and regulation of neuron apoptotic process. Acts upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including gallbladder; genitourinary system; gut; skeletal musculature; and somite. Human ortholog(s) of this gene implicated in renal cell carcinoma. Orthologous to human EGLN3 (egl-9 family hypoxia inducible factor 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in small intestine adult (RPKM 16.9), stomach adult (RPKM 16.8) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C1; 12 22.9 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (54225767..54250660, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (54178981..54203874, complement)

Chromosome 12 - NC_000078.7 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?

Inactivation of EGLN3 hydroxylase facilitates Erk3 degradation via autophagy and impedes lung cancer growth.
Title: Inactivation of EGLN3 hydroxylase facilitates Erk3 degradation via autophagy and impedes lung cancer growth.
Prolyl-4-hydroxylase 3 maintains beta cell glucose metabolism during fatty acid excess in mice.
Title: Prolyl-4-hydroxylase 3 maintains β cell glucose metabolism during fatty acid excess in mice.
PHDs/CPT1B/VDAC1 axis regulates long-chain fatty acid oxidation in cardiomyocytes.
Title: PHDs/CPT1B/VDAC1 axis regulates long-chain fatty acid oxidation in cardiomyocytes.
Prolyl Hydroxylase Domain-Containing Protein 3 Gene Expression in Chondrocytes Is Not Essential for Bone Development in Mice.
Title: Prolyl Hydroxylase Domain-Containing Protein 3 Gene Expression in Chondrocytes Is Not Essential for Bone Development in Mice.
miR-451 protects against ischemic stroke by targeting Phd3.
Title: miR-451 protects against ischemic stroke by targeting Phd3.
Prolyl hydroxylase 3 controls the intestine goblet cell generation through stabilizing ATOH1.
Title: Prolyl hydroxylase 3 controls the intestine goblet cell generation through stabilizing ATOH1.
PHD3 mediates denervation skeletal muscle atrophy through Nf-kappaB signal pathway.
Title: PHD3 mediates denervation skeletal muscle atrophy through Nf-κB signal pathway.
PHD3 and PHD2 depletion leads to dilated cardiomyopathy and exacerbates cardiac injury.
Title: Depletion of Endothelial Prolyl Hydroxylase Domain Protein 2 and 3 Promotes Cardiomyocyte Proliferation and Prevents Ventricular Failure Induced by Myocardial Infarction.
obstructive sleep apnea-induced cardiovascular fibrosis was associated with smooth muscle cells dedifferentiation, and PHD3 overexpression may benefit its prevention by reversing the dedifferentiation. Therefore, PHD3 overexpression has therapeutic potential in disease treatment.
Title: Prolyl 4-Hydroxylase Domain Protein 3-Inhibited Smooth-Muscle-Cell Dedifferentiation Improves Cardiac Perivascular Fibrosis Induced by Obstructive Sleep Apnea.
glucagon-inducible PHD3 regulates glucose metabolism by suppressing stress signalling and optimising gluconeogenesis and insulin signalling in hepatocytes.
Title: PHD3 regulates glucose metabolism by suppressing stress-induced signalling and optimising gluconeogenesis and insulin signalling in hepatocytes.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI505553 (e-PCR)
- UniSTS:164496

AI648162 (e-PCR)
- UniSTS:164497

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables hypoxia-inducible factor-proline dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info
enables peptidyl-proline 4-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-proline 4-dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables peptidyl-proline dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ISO Inferred from Sequence Orthology more info
involved_in protein hydroxylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: prolyl hydroxylase EGLN3

Names: HIF-PH3; HIF-prolyl hydroxylase 3; HPH-3; hypoxia-inducible factor prolyl hydroxylase 3; prolyl hydroxylase domain-containing protein 3

NP_082409.2

EC 1.14.11.29

XP_036013061.1

EC 1.14.11.29

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_028133.2 → NP_082409.2 prolyl hydroxylase EGLN3

See identical proteins and their annotated locations for NP_082409.2

Status: VALIDATED

Source sequence(s)

AK011502, AK044787, BQ175570

Consensus CDS

CCDS25908.1

UniProtKB/TrEMBL

A0A0R4J0H9

Related

ENSMUSP00000041874.4, ENSMUST00000039516.4

Conserved Domains (1) summary

smart00702
Location:36 → 213

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

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_000078.7 Reference GRCm39 C57BL/6J

Range

54225767..54250660 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157168.1 → XP_036013061.1 prolyl hydroxylase EGLN3 isoform X1

Conserved Domains (1) summary

smart00702
Location:1 → 93

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues