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EGLN1 egl nine homolog 1 (C. elegans) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022051 Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 TBD

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Gene Symbol EGLN1
Entrez Gene ID 54583
Full Name egl nine homolog 1 (C. elegans)
Synonyms C1orf12, DKFZp761F179, ECYT3, HIFPH2, HPH2, PHD2, SM20, ZMYND6
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
KEGG
hsa04066HIF-1 signaling pathway
hsa05200Pathways in cancer
hsa05211Renal cell carcinoma
Pathway Interaction Database
hif1_tfpathwayHIF-1-alpha transcription factor network
hif2pathwayHIF-2-alpha transcription factor network
Reactome
REACT_121311Cellular response to hypoxia
REACT_120916Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
REACT_120956Cellular responses to stress
REACT_120815Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
Homo sapiens (human)EGLN1NP_071334.1
Macaca mulatta (Rhesus monkey)EGLN1XP_001104870.1
Canis lupus familiaris (dog)EGLN1XP_546089.3
Bos taurus (cattle)EGLN1NP_001192975.2
Mus musculus (house mouse)Egln1NP_444437.2
Rattus norvegicus (Norway rat)Egln1XP_002728657.1
Gallus gallus (chicken)LOC768374XP_001231254.2
Danio rerio (zebrafish)LOC100329385XP_002664281.2
Drosophila melanogaster (fruit fly)HphNP_730906.1
GeneCards EGLN1
PDB 3OUH, 3HQR, 3OUI, 2Y33, 2HBT, 3HQU, 2G19, 2G1M, 3OUJ, 2Y34, 2HBU
UniProt Q9GZT9
MIM 606425
Ensembl ENSG00000135766
HGNC 1232
HPRD 06971

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

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

Interactant



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