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EGLN1 egl-9 family hypoxia inducible factor 1 [ Homo sapiens (human) ]

Gene ID: 54583, updated on 6-Jan-2019

Summary

Official Symbol
EGLN1provided by HGNC
Official Full Name
egl-9 family hypoxia inducible factor 1provided by HGNC
Primary source
HGNC:HGNC:1232
See related
Ensembl:ENSG00000135766 MIM:606425
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPH2; PHD2; SM20; ECYT3; HALAH; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues See more
Orthologs

Genomic context

See EGLN1 in Genome Data Viewer
Location:
1q42.2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (231363751..231425044, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231499497..231560790, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985360 Neighboring gene exocyst complex component 8 Neighboring gene SprT-like N-terminal domain Neighboring gene small nuclear ribonucleoprotein D2 pseudogene 2 Neighboring gene TSNAX-DISC1 readthrough (NMD candidate) Neighboring gene translin associated factor X

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of egl-9 family hypoxia-inducible factor 1 (EGLN1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761F179

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
heart trabecula formation IEA
Inferred from Electronic Annotation
more info
 
labyrinthine layer development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
oxygen homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuron death IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynapse organization IEA
Inferred from Electronic Annotation
more info
 
regulation of protein catabolic process at postsynapse, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
response to nitric oxide IDA
Inferred from Direct Assay
more info
PubMed 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
egl nine homolog 1
Names
HIF-prolyl hydroxylase 2
egl nine-like protein 1
hypoxia-inducible factor prolyl hydroxylase 2
prolyl hydroxylase domain-containing protein 2
zinc finger MYND domain-containing protein 6
NP_071334.1
XP_005273223.1
XP_005273224.1
XP_024303502.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_015865.1 RefSeqGene

    Range
    5001..66294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022051.2NP_071334.1  egl nine homolog 1

    See identical proteins and their annotated locations for NP_071334.1

    Status: REVIEWED

    Source sequence(s)
    AF229245, AI017372, AL117352
    Consensus CDS
    CCDS1595.1
    UniProtKB/Swiss-Prot
    Q9GZT9
    UniProtKB/TrEMBL
    R4SCQ0
    Related
    ENSP00000355601.3, ENST00000366641.3
    Conserved Domains (2) summary
    smart00702
    Location:220391
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam01753
    Location:2158
    zf-MYND; MYND finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    231363751..231425044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273167.5XP_005273224.1  egl nine homolog 1 isoform X2

    Conserved Domains (2) summary
    pfam01753
    Location:2158
    zf-MYND; MYND finger
    cl21496
    Location:220333
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  2. XM_005273166.5XP_005273223.1  egl nine homolog 1 isoform X1

    Conserved Domains (2) summary
    smart00702
    Location:220380
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam01753
    Location:2158
    zf-MYND; MYND finger
  3. XM_024447734.1XP_024303502.1  egl nine homolog 1 isoform X2

    Conserved Domains (2) summary
    pfam01753
    Location:2158
    zf-MYND; MYND finger
    cl21496
    Location:220333
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
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