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

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022051 Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 TBD
XM_005273166 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005273167 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006711782 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol EGLN1
Entrez Gene ID 54583
Full Name egl-9 family hypoxia-inducible factor 1
Synonyms C1orf12, ECYT3, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
General protein information
Preferred Names
egl nine homolog 1
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
Gene Type protein-coding
Organism Homo sapiens (human)



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].

MIM: 606425

Erythrocytosis, familial, 3, 609820 (3)

mRNA Protein Product Sequence Price Select
NM_022051, 237649101 NP_071334, 13489073 egl nine homolog 1 ORF Sequence $360.00
XM_005273166, 578802250 XP_005273223, 530366273 egl nine homolog 1 isoform X1 ORF Sequence $400.00
XM_005273167, 578802251 XP_005273224, 530366275 egl nine homolog 1 isoform X2 ORF Sequence $400.00
XM_006711782, 578802248 XP_006711845, 578802249 egl nine homolog 1 isoform X3 ORF Sequence $550.00
hsa05211Renal cell carcinoma
hsa05200Pathways in cancer
hsa04066HIF-1 signaling pathway
Pathway Interaction Database
hif2pathwayHIF-2-alpha transcription factor network
hif1_tfpathwayHIF-1-alpha transcription factor network
REACT_121311Cellular response to hypoxia
REACT_120815Regulation of Hypoxia-inducible Factor (HIF) by oxygen
REACT_120916Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
REACT_120956Cellular responses to stress
Homo sapiens (human)EGLN1NP_071334.1
Pan troglodytes (chimpanzee)EGLN1XP_525092.2
Macaca mulatta (Rhesus monkey)EGLN1XP_001104870.1
Canis lupus familiaris (dog)EGLN1XP_546089.3
Mus musculus (house mouse)Egln1NP_444437.2
Rattus norvegicus (Norway rat)Egln1XP_002728657.3
Gallus gallus (chicken)LOC768374XP_001231254.3
Danio rerio (zebrafish)egln1NP_001002595.2
Danio rerio (zebrafish)si:ch1073-423n4.1XP_002664281.2
Xenopus (Silurana) tropicalis (western clawed frog)egln1NP_001015960.1
GO:0001666response to hypoxiaIDA
GO:0018401peptidyl-proline hydroxylation to 4-hydroxy-L-prolineIDA
GO:0030821negative regulation of cAMP catabolic processISS
GO:0032364oxygen homeostasisIDA
GO:0043433negative regulation of sequence-specific DNA binding transcription factor activityIDA
GO:0045765regulation of angiogenesisISS
GO:0051344negative regulation of cyclic-nucleotide phosphodiesterase activityISS
GO:0055008cardiac muscle tissue morphogenesisIEA
GO:0055114oxidation-reduction processIEA
GO:0060347heart trabecula formationIEA
GO:0060412ventricular septum morphogenesisIEA
GO:0060711labyrinthine layer developmentIEA
GO:0061418regulation of transcription from RNA polymerase II promoter in response to hypoxiaTAS
GO:0071456cellular response to hypoxiaTAS
GO:0071731response to nitric oxideIDA
GO:0005506iron ion bindingIEA
GO:0005515protein bindingIPI
GO:0019899enzyme bindingISS
GO:0031418L-ascorbic acid bindingIEA
GO:0031543peptidyl-proline dioxygenase activityTAS
GO:0031545peptidyl-proline 4-dioxygenase activityIDA
GeneCards EGLN1
UniProt Q9GZT9, R4SCQ0
Vega OTTHUMG00000038027
MIM 606425
Ensembl ENSG00000135766
HGNC 1232
HPRD 06971

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EGLN1 gene?

The EGLN1 gene, often known as PHD2, provides instructions for making an enzyme called prolyl hydroxylase domain 2 (PHD2). The PHD2 enzyme interacts with a protein called hypoxia-inducible factor 2-alpha (HIF-2α). This protein is one part (subunit) of a larger HIF protein complex that plays a critical role in the body's ability to adapt to changing oxygen levels. HIF controls several important genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. It is the major regulator of a hormone called erythropoietin, which controls red blood cell production.

The PHD2 enzyme's primary job is to target HIF-2α to be broken down (degraded) so it does not build up when it is not needed. When enough oxygen is available, the PHD2 enzyme is highly active to stimulate the breakdown of HIF-2α. However, when oxygen levels are lower than normal (hypoxia), the PHD2 enzyme becomes less active. As a result, HIF-2α is degraded more slowly, leaving more HIF available to stimulate the formation of new blood vessels and red blood cells. These activities help maximize the amount of oxygen that can be delivered to the body's organs and tissues.

Studies suggest that the EGLN1 gene is involved in the body's adaptation to high altitude. At higher altitudes, such as in mountainous regions, air pressure is lower and less oxygen enters the body through the lungs. Over time, the body compensates for the lower oxygen levels by changing breathing patterns and producing more red blood cells and blood vessels.

Researchers suspect that the EGLN1 gene may also act as a tumor suppressor gene because of its role in regulating cell division and other processes through its interaction with HIF. Tumor suppressors prevent cells from growing and dividing too fast or in an uncontrolled way, which could lead to the development of a tumor.


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