Egln1 egl-9 family hypoxia-inducible factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Egln1provided by MGI
Official Full Name: egl-9 family hypoxia-inducible factor 1provided by MGI
Primary source: MGI:MGI:1932286
See related: Ensembl:ENSMUSG00000031987 AllianceGenome:MGI:1932286
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: Phd2; HPH-2; ORF13; SM-20; C1orf12; HIF-PH2; Hif-p4h-2
Summary: Predicted to enable enzyme binding activity; ferrous iron binding activity; and peptidyl-proline 4-dioxygenase activity. Involved in several processes, including cellular iron ion homeostasis; regulation of angiogenesis; and regulation of protein catabolic process at postsynapse, modulating synaptic transmission. Acts upstream of or within heart morphogenesis and labyrinthine layer development. Located in glutamatergic synapse. Is active in postsynaptic density. Is expressed in brain; genitourinary system; and trunk. Human ortholog(s) of this gene implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma. Orthologous to human EGLN1 (egl-9 family hypoxia inducible factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 63.4), ovary adult (RPKM 20.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E2; 8 72.86 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (125635325..125676063, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (124908587..124949254, complement)

Chromosome 8 - NC_000074.7 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?

Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
Title: Loss of prolyl hydroxylase 1 and 2 in SM22α-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
Proline hydroxylase 2 (PHD2) promotes brown adipose thermogenesis by enhancing the hydroxylation of UCP1.
Title: Proline hydroxylase 2 (PHD2) promotes brown adipose thermogenesis by enhancing the hydroxylation of UCP1.
Adipocyte-derived lactate is a signalling metabolite that potentiates adipose macrophage inflammation via targeting PHD2.
Title: Adipocyte-derived lactate is a signalling metabolite that potentiates adipose macrophage inflammation via targeting PHD2.
Myeloid PHD2 deficiency accelerates neointima formation via Hif-1alpha.
Title: Myeloid PHD2 deficiency accelerates neointima formation via Hif-1α.
The oxygen sensor prolyl hydroxylase domain 2 regulates the in vivo suppressive capacity of regulatory T cells.
Title: The oxygen sensor prolyl hydroxylase domain 2 regulates the in vivo suppressive capacity of regulatory T cells.
AMP-activated protein kinase alpha1 phosphorylates PHD2 to maintain systemic iron homeostasis.
Title: AMP-activated protein kinase α1 phosphorylates PHD2 to maintain systemic iron homeostasis.
Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia.
Title: Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia.
Developmental role of PHD2 in the pathogenesis of pseudohypoxic pheochromocytoma.
Title: Developmental role of PHD2 in the pathogenesis of pseudohypoxic pheochromocytoma.
Prolyl-4-hydroxylases 2 and 3 control erythropoietin production in renin-expressing cells of mouse kidneys.
Title: Prolyl-4-hydroxylases 2 and 3 control erythropoietin production in renin-expressing cells of mouse kidneys.
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.

Submit: New GeneRIF Correction See all GeneRIFs (84)

Variation

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Alleles

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

Gene trapped (1)
Targeted (12) 1 citation
Endonuclease-mediated (4) 1 citation

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

RH126784 (e-PCR)
- UniSTS:208339

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 enzyme binding	ISO Inferred from Sequence Orthology more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	ISO Inferred from Sequence Orthology more info
enables hypoxia-inducible factor-proline dioxygenase activity	ISO Inferred from Sequence Orthology 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 dioxygenase activity	ISO Inferred from Sequence Orthology more info

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

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_001350404.1

EC 1.14.11.29

NP_444437.2

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_001363475.2 → NP_001350404.1 egl nine homolog 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate coding exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC139158

Conserved Domains (3) summary

pfam01753
Location:21 → 58

zf-MYND; MYND finger

cl21496
Location:192 → 310

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

cl26464
Location:63 → 167

Atrophin-1; Atrophin-1 family
NM_053207.3 → NP_444437.2 egl nine homolog 1 isoform 1

See identical proteins and their annotated locations for NP_444437.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC139158

Consensus CDS

CCDS52706.1

UniProtKB/Swiss-Prot

Q8VHJ2, Q91YE3, Q922P3

Related

ENSMUSP00000034469.6, ENSMUST00000034469.7

Conserved Domains (2) summary

smart00702
Location:192 → 368

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

pfam01753
Location:21 → 58

zf-MYND; MYND finger