1. Gene
  2. Egln1 - egl-9 family hypoxia-inducible factor 1 Gene

Egln1 - egl-9 family hypoxia-inducible factor 1 Gene

Mus musculus

Also known as Phd2; HPH-2; ORF13; SM-20; C1orf12; HIF-PH2; Hif-p4h-2

Gene ID: 112405 | Gene type: protein coding

About Egln1

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]

Egln1 Products(2)

mRNA Protein Name
NM_001363475.2 NP_001350404.1 egl nine homolog 1 isoform 2
NM_053207.3 NP_444437.2 egl nine homolog 1 isoform 1
Gene Ontology
  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
16966370 MGI
acts upstream of or within heart trabecula formation IMP
IMP: Inferred from mutant phenotype
16966370 MGI
involved in intracellular iron ion homeostasis IMP
IMP: Inferred from mutant phenotype
26818499 MGI
acts upstream of or within labyrinthine layer development IMP
IMP: Inferred from mutant phenotype
16966370 MGI
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
26818499 MGI
involved in regulation of angiogenesis IMP
IMP: Inferred from mutant phenotype
18500250 MGI
involved in regulation of modification of postsynaptic structure IDA
IDA: Inferred from direct assay
26972007 MGI
involved in regulation of modification of postsynaptic structure IEP
IEP: Inferred from expression pattern
26972007 MGI
involved in regulation of modification of postsynaptic structure IMP
IMP: Inferred from mutant phenotype
26972007 MGI
involved in regulation protein catabolic process at postsynapse IDA
IDA: Inferred from direct assay
26972007 MGI
involved in regulation protein catabolic process at postsynapse IEP
IEP: Inferred from expression pattern
26972007 MGI
involved in regulation protein catabolic process at postsynapse IMP
IMP: Inferred from mutant phenotype
26972007 MGI
acts upstream of or within ventricular septum morphogenesis IMP
IMP: Inferred from mutant phenotype
16966370 MGI
Cellular Component GO Annotation Evidence Reference Source
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
26972007 MGI
is active in glutamatergic synapse IEP
IEP: Inferred from expression pattern
26972007 MGI
is active in glutamatergic synapse IMP
IMP: Inferred from mutant phenotype
26972007 MGI
is active in postsynaptic density IDA
IDA: Inferred from direct assay
26972007 MGI
is active in postsynaptic density IEP
IEP: Inferred from expression pattern
26972007 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

egl nine homolog 1

HIF-prolyl hydroxylase 2

hypoxia-inducible factor prolyl hydroxylase 2

prolyl hydroxylase domain-containing protein 2

Orthologs Information

Species Symbol Source ID
Homo sapiens Egln1 NCBI NCBI:54583