Egln1 egl-9 family hypoxia-inducible factor 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Egln1provided by RGD
Official Full Name: egl-9 family hypoxia-inducible factor 1provided by RGD
Primary source: RGD:631375
See related: AllianceGenome:RGD:631375
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: PHD2; HPH-2; PHD-2; HIF-PH2
Summary: This gene encodes a component of a transcriptional complex that plays a central role in mammalian oxygen homeostasis. Hypoxia reduces the activity of prolyl hyxroxylases that hydroxylate specific proline residues of the hypoxia-inducible factor-1a (Hif1a). In the absence of hydroxylation, the Hif1a transcription factor accumulates and activates transcription of hypoxia-responsive target genes. This gene encodes one of the three known Hif-interacting 2-oxoglutarate/iron-dependent prolyl-hydroxylases (HIF-PHDs) in rat. Targeted disruption of this gene in mice produced embryonic lethality between embryonic day 12.5 and day 14.5. Based on the transcript data currently available for rat, this Reference Sequence is believed to contain the complete coding region for this gene. However, when compared to its mouse and human orthologs, it has a shorter 5' coding region and an incomplete N-terminus zf-MYND domain. This locus currently has limited transcript data and aligns to an unfinished region of the rat reference genome assembly. It is therefore uncertain whether its coding region can be extended at the 5' end to encode a complete zf-MYND domain, whether no further changes need to be made to its coding region, or whether it is a transcribed pseudogene that does not encode a functional protein. As more transcript and experimental data become available, the coding status of this locus may change. [provided by RefSeq, Jul 2008]
Expression: Biased expression in Muscle (RPKM 341.3), Heart (RPKM 250.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 19q12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	19	NC_086037.1 (69765276..69804681, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	19	NC_051354.1 (52867900..52907308, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	19	NC_005118.4 (57660194..57701158, complement)

Chromosome 19 - NC_086037.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRP5 Regulates HIF-1alpha Stability via Interaction with PHD2 in Ischemic Myocardium.
Title: LRP5 Regulates HIF-1α Stability via Interaction with PHD2 in Ischemic Myocardium.
Myocardium-targeted transplantation of PHD2 shRNA-modified bone mesenchymal stem cells through ultrasound-targeted microbubble destruction protects the heart from acute myocardial infarction.
Title: Myocardium-targeted transplantation of PHD2 shRNA-modified bone mesenchymal stem cells through ultrasound-targeted microbubble destruction protects the heart from acute myocardial infarction.
Prolyl hydroxylase 2 silencing enhances the paracrine effects of mesenchymal stem cells on necrotizing enterocolitis in an NF-kappaB-dependent mechanism.
Title: Prolyl hydroxylase 2 silencing enhances the paracrine effects of mesenchymal stem cells on necrotizing enterocolitis in an NF-κB-dependent mechanism.
he above results indicated that direct peritoneal resuscitation with pyruvate showed effective protection to ischemia-reperfusion of the spinal cord through activating autophagy via acting on PHD2 and its downstream HIF-1alpha/BNIP3 pathway.
Title: Direct Peritoneal Resuscitation with Pyruvate Protects the Spinal Cord and Induces Autophagy via Regulating PHD2 in a Rat Model of Spinal Cord Ischemia-Reperfusion Injury.
Overexpression of prolyl-hydroxylase 2 (PHD2) transgene, a predominant isoform of PHDs in renal tubules, to reduce HIF-1alpha level significantly attenuated albumin-induced increases in TIMP-1 and collagen-I levels. These results suggest that albumin-induced oxidative stress inhibits PHD activity to accumulate HIF-1alpha, which mediates albumin-induced profibrotic effects in renal tubular cells
Title: Hypoxia inducible factor-1α mediates the profibrotic effect of albumin in renal tubular cells.
Our data suggests that mitochondrial stress-mediated elevations in PHD2 interaction with the p23-hsp90 complex have detrimental effects on the survival of DAergic neurons, while p23 inhibition is neuroprotective.
Title: Hsp90 Co-chaperone p23 contributes to dopaminergic mitochondrial stress via stabilization of PHD2: Implications for Parkinson's disease.
GLA supplementation regulates PHD2 mediated hypoxia and mitochondrial apoptosis in DMBA induced mammary gland carcinoma.
Title: GLA supplementation regulates PHD2 mediated hypoxia and mitochondrial apoptosis in DMBA induced mammary gland carcinoma.
HDACs controlled HIF-1alpha stability by regulating HIF-1alpha-PHD2 interaction in NP cells.
Title: Class I and IIa HDACs Mediate HIF-1α Stability Through PHD2-Dependent Mechanism, While HDAC6, a Class IIb Member, Promotes HIF-1α Transcriptional Activity in Nucleus Pulposus Cells of the Intervertebral Disc.
This PHD-2-mediated transcriptional activation may be important for regulating VEGF expression through HIF-1a signaling in LCs during corpus luteum development in mammals.
Title: Effects of HIF prolyl-hydroxylase-2 gene silencing on HCG-induced vascular endothelial growth factor expression in luteal cells.
PHD2-mediated transcriptional activation may be one of the mechanisms regulating VEGF expression in luteal cells during mammalian corpus luteum development.
Title: Overexpression of hypoxia-inducible factor prolyl hydoxylase-2 attenuates hypoxia-induced vascular endothelial growth factor expression in luteal cells.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129177 (e-PCR)
- UniSTS:212485

AI503754 (e-PCR)
- UniSTS:159837

AI178936 (e-PCR)
- UniSTS:261257

RH143878 (e-PCR)
- UniSTS:233124

RH143920 (e-PCR)
- UniSTS:233166

Gene Ontology Provided by RGD

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 enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IEA Inferred from Electronic Annotation more info
enables ferrous iron binding	ISO Inferred from Sequence Orthology more info
enables ferrous iron binding	ISS Inferred from Sequence or Structural Similarity more info
enables hypoxia-inducible factor-proline dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables hypoxia-inducible factor-proline dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables peptidyl-proline 4-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-proline dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart trabecula formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart trabecula formation	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular oxygen homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular oxygen homeostasis	ISO Inferred from Sequence Orthology more info
involved_in labyrinthine layer development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within labyrinthine layer development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of CAMKK-AMPK signaling cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cyclic-nucleotide phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cyclic-nucleotide phosphodiesterase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of modification of postsynaptic structure	IEA Inferred from Electronic Annotation more info
involved_in regulation of modification of postsynaptic structure	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation protein catabolic process at postsynapse	IEA Inferred from Electronic Annotation more info
involved_in regulation protein catabolic process at postsynapse	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in response to nitric oxide	IEA Inferred from Electronic Annotation more info
involved_in response to nitric oxide	ISO Inferred from Sequence Orthology more info
involved_in response to nitric oxide	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ventricular septum morphogenesis	ISO Inferred from Sequence Orthology more info

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	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: egl nine homolog 1

Names: HIF-prolyl hydroxylase 2; hypoxia-inducible factor prolyl hydroxylase 2; prolyl hydroxylase domain-containing protein 2

NP_848017.2

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_178334.4 → NP_848017.2 egl nine homolog 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000019

UniProtKB/Swiss-Prot

P59722, Q642G6

UniProtKB/TrEMBL

A0A8I5Y5B5