Epo erythropoietin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Epoprovided by MGI
Official Full Name: erythropoietinprovided by MGI
Primary source: MGI:MGI:95407
See related: Ensembl:ENSMUSG00000029711 AllianceGenome:MGI:95407
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes the glycoprotein hormone erythropoietin that regulates the production of red blood cells and biosynthesis of hemoglobin. The predominant expression of this gene shifts from the liver during fetal development to kidney in adults. A complete lack of the encoded protein causes embryonic lethal anemia in mice. The conditional inactivation of this gene in adult mice results in a chronic, normocytic and normochromic anemia. Transgenic mice expressing the human ortholog of this gene exhibit polycythemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 76.5 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (137481282..137484078, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (137483020..137485816, complement)

Chromosome 5 - NC_000071.7 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: 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?

Novel roles of cardiac-derived erythropoietin in cardiac development and function.
Title: Novel roles of cardiac-derived erythropoietin in cardiac development and function.
Endogenous erythropoietin has immunoregulatory functions that limit the expression of autoimmune kidney disease in mice.
Title: Endogenous erythropoietin has immunoregulatory functions that limit the expression of autoimmune kidney disease in mice.
The transcriptional and regulatory identity of erythropoietin producing cells.
Title: The transcriptional and regulatory identity of erythropoietin producing cells.
Erythropoietin signaling in peripheral macrophages is required for systemic beta-amyloid clearance.
Title: Erythropoietin signaling in peripheral macrophages is required for systemic β-amyloid clearance.
HMGB1-mediated restriction of EPO signaling contributes to anemia of inflammation.
Title: HMGB1-mediated restriction of EPO signaling contributes to anemia of inflammation.
Linking erythropoietin to Treg-dependent allograft survival through myeloid cells.
Title: Linking erythropoietin to Treg-dependent allograft survival through myeloid cells.
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.
The Non-Erythropoietic EPO Analogue Cibinetide Inhibits Osteoclastogenesis In Vitro and Increases Bone Mineral Density in Mice.
Title: The Non-Erythropoietic EPO Analogue Cibinetide Inhibits Osteoclastogenesis In Vitro and Increases Bone Mineral Density in Mice.
Transforming growth factor-beta1 decreases erythropoietin production through repressing hypoxia-inducible factor 2alpha in erythropoietin-producing cells.
Title: Transforming growth factor-β1 decreases erythropoietin production through repressing hypoxia-inducible factor 2α in erythropoietin-producing cells.
Receptor-mediated mitophagy regulates EPO production and protects against renal anemia.
Title: Receptor-mediated mitophagy regulates EPO production and protects against renal anemia.

Submit: New GeneRIF Correction See all GeneRIFs (151)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Epo (e-PCR), detects polymorphism
- UniSTS:516656

Epo (e-PCR), detects polymorphism
- UniSTS:516666

NoName (e-PCR)
- UniSTS:494925

Epo (e-PCR), detects polymorphism
- UniSTS:142998

Epo (e-PCR), detects polymorphism
- UniSTS:142999

Epo (e-PCR), detects polymorphism
- UniSTS:528074

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	ISO Inferred from Sequence Orthology more info
enables erythropoietin receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables erythropoietin receptor binding	ISO Inferred from Sequence Orthology more info
enables erythropoietin receptor binding	TAS Traceable Author Statement more info	PubMed
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables protein kinase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cardiac muscle tissue morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cellular hyperosmotic response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryo implantation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within erythrocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in erythropoietin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in erythropoietin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in heart morphogenesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within hemoglobin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of myeloid cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion transport into cytosol	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cation channel activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of erythrocyte apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of myeloid cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of activated T cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tyrosine phosphorylation of STAT protein	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis involved in coronary vascular morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in visceral serous pericardium development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: erythropoietin

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_001312875.1 → NP_001299804.1 erythropoietin isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

Source sequence(s)

BC119265

Consensus CDS

CCDS84978.1

UniProtKB/TrEMBL

B7ZMY9

Related

ENSMUSP00000106668.2, ENSMUST00000111039.3

Conserved Domains (1) summary

pfam00758
Location:30 → 190

EPO_TPO; Erythropoietin/thrombopoietin
NM_007942.2 → NP_031968.1 erythropoietin isoform 1 precursor

See identical proteins and their annotated locations for NP_031968.1

Status: REVIEWED

Description

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

Source sequence(s)

BC119265

Consensus CDS

CCDS39332.1

UniProtKB/Swiss-Prot

P07321

UniProtKB/TrEMBL

Q0VED9

Related

ENSMUSP00000031723.7, ENSMUST00000031723.14

Conserved Domains (1) summary

pfam00758
Location:30 → 191

EPO_TPO; Erythropoietin/thrombopoietin