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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22997 NM_022051 Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu35041 XM_006711782 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu35042 XM_005273166 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu35043 XM_005273167 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu22997C NM_022051 Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), mRNA. Customized vector In-stock 5-7 $149.00
OHu35041C XM_006711782 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X3, mRNA. Customized vector On-demand 7-9 $269.00
OHu35042C XM_005273166 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00
OHu35043C XM_005273167 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X2, mRNA. Customized vector On-demand 7-9 $269.00

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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
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
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q42.1

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].
Disorder

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
KEGG
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
Reactome
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
Process
IDNameEvidence
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
Component
IDNameEvidence
GO:0005634nucleusIEA
GO:0005737cytoplasmIDA
GO:0005829cytosolTAS
Function
IDNameEvidence
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?

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