Format

Send to:

Choose Destination

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

Gene ID: 112405, updated on 25-Nov-2021

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
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; AI503754; Hif-p4h-2
Expression
Ubiquitous expression in heart adult (RPKM 63.4), ovary adult (RPKM 20.9) and 27 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Egln1 in Genome Data Viewer
Location:
8; 8 E2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (125635326..125675993, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (124908587..124949254, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (127432487..127473154, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene exocyst complex component 8 Neighboring gene SprT-like N-terminal domain Neighboring gene predicted gene, 46060 Neighboring gene predicted gene, 39281 Neighboring gene translin-associated factor X

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables ferrous iron binding 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
PubMed 
enables peptidyl-proline 4-dioxygenase activity ISO
Inferred from Sequence Orthology
more info
 
enables peptidyl-proline dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within heart trabecula formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 negative regulation of cyclic-nucleotide phosphodiesterase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in oxygen homeostasis 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
PubMed 
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 death 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 neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynapse organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynapse organization IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in regulation of postsynapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein catabolic process at postsynapse, modulating synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of protein catabolic process at postsynapse, modulating synaptic transmission IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in regulation of protein catabolic process at postsynapse, modulating synaptic transmission 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
PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_444437.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001363475.1NP_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:2158
    zf-MYND; MYND finger
    cl21496
    Location:192310
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
    cl26464
    Location:63167
    Atrophin-1; Atrophin-1 family
  2. NM_053207.2NP_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)
    AF453878, AJ310546, AK084519, CJ181087
    Consensus CDS
    CCDS52706.1
    UniProtKB/Swiss-Prot
    Q91YE3
    Related
    ENSMUSP00000034469.6, ENSMUST00000034469.7
    Conserved Domains (2) summary
    smart00702
    Location:192368
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam01753
    Location:2158
    zf-MYND; MYND finger

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    125635326..125675993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center