Mus musculus Gene: Egln1
Summary
InnateDB Gene IDBG-200540.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Egln1
Gene Name EGL nine homolog 1 (C. elegans)
Synonyms AI503754; C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13; Phd2; SM-20
Species Mus musculus
Ensembl Gene ENSMUSG00000031987
Encoded Proteins
EGL nine homolog 1 (C. elegans)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000135766:
The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:124908596-124949254
Strand Reverse strand
Band E2
Transcripts
ENSMUST00000034469 ENSMUSP00000034469
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0005515 protein binding
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0019899 enzyme binding
GO:0031418 L-ascorbic acid binding
GO:0031543 peptidyl-proline dioxygenase activity
GO:0031545 peptidyl-proline 4-dioxygenase activity
Biological Process
GO:0001666 response to hypoxia
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO:0030821 negative regulation of cAMP catabolic process
GO:0032364 oxygen homeostasis
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045765 regulation of angiogenesis
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0055008 cardiac muscle tissue morphogenesis
GO:0055114 oxidation-reduction process
GO:0060347 heart trabecula formation
GO:0060412 ventricular septum morphogenesis
GO:0060711 labyrinthine layer development
GO:0071731 response to nitric oxide
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
Orthologs
Species
Homo sapiens
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Cellular responses to stress pathway
Cellular response to hypoxia pathway
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
KEGG
Renal cell carcinoma pathway
Pathways in cancer pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway
Cellular responses to stress pathway
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
Cellular response to hypoxia pathway
KEGG
Renal cell carcinoma pathway
Pathways in cancer pathway
INOH
PID NCI
HIF-1-alpha transcription factor network
Cross-References
SwissProt Q91YE3
TrEMBL
UniProt Splice Variant
Entrez Gene 112405
UniGene Mm.140619
RefSeq NM_053207
OMIM
CCDS CCDS52706
HPRD
IMGT
MGI ID MGI:1932286
MGI Symbol Egln1
EMBL AF453878 AJ310546 AL672234 BC006903
GenPept AAH06903 AAL65165 CAC42515
RNA Seq Atlas 112405