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

Gene ID: 54583, updated on 25-Jul-2014
Official Symbol
EGLN1provided by HGNC
Official Full Name
egl-9 family hypoxia-inducible factor 1provided by HGNC
Primary source
HGNC:1232
Locus tag
PNAS-118
See related
Ensembl:ENSG00000135766; HPRD:06971; MIM:606425; Vega:OTTHUMG00000038027
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; 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]
See EGLN1 in Epigenomics, MapViewer
Location:
1q42.1
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 RNA, 5S ribosomal pseudogene 80 Neighboring gene exocyst complex component 8 Neighboring gene SprT-like N-terminal domain Neighboring gene uncharacterized LOC102724041 Neighboring gene small nuclear ribonucleoprotein D2 pseudogene 2 Neighboring gene TSNAX-DISC1 readthrough (NMD candidate) Neighboring gene translin-associated factor X

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp761F179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline 4-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-proline dioxygenase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia TAS
Traceable Author Statement
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 cAMP catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
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
 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
egl nine homolog 1
Names
egl nine homolog 1
egl nine-like protein 1
HIF prolyl hydroxylase 2
HIF-prolyl hydroxylase 2
zinc finger MYND domain-containing protein 6
hypoxia-inducible factor prolyl hydroxylase 2
prolyl hydroxylase domain-containing protein 2
NP_071334.1

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_071334.1

    Status: REVIEWED

    Source sequence(s)
    AF229245, AI017372, AL117352
    Consensus CDS
    CCDS1595.1
    UniProtKB/Swiss-Prot
    Q9GZT9
    UniProtKB/TrEMBL
    R4SCQ0
    Related
    ENSP00000355601, OTTHUMP00000036152, ENST00000366641, OTTHUMT00000092879
    Conserved Domains (2) summary
    smart00702
    Location:220391
    Blast Score: 339
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam01753
    Location:2158
    Blast Score: 150
    zf-MYND; MYND finger

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

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

mRNA and Protein(s)

  1. XM_005273167.2XP_005273224.1  

    Conserved Domains (2) summary
    pfam01753
    Location:2158
    Blast Score: 141
    zf-MYND; MYND finger
    cl17304
    Location:220333
    Blast Score: 194
    2OG-FeII_Oxy_3; 2OG-Fe(II) oxygenase superfamily
  2. XM_005273166.2XP_005273223.1  

    Conserved Domains (2) summary
    smart00702
    Location:220380
    Blast Score: 306
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam01753
    Location:2158
    Blast Score: 147
    zf-MYND; MYND finger
  3. XM_006711782.1XP_006711845.1  

    Conserved Domains (2) summary
    smart00702
    Location:220391
    Blast Score: 339
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam01753
    Location:2158
    Blast Score: 150
    zf-MYND; MYND finger

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    201982787..202043989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    232773121..232834670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)