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Malignant cells displayed moderate to strong cytoplasmic positivity often combined with membranous staining.
GENE INFORMATION
Gene name
EGLN1 (HGNC Symbol)
Synonyms
C1orf12, HIFPH2, PHD2, SM-20, ZMYND6
Description
Egl-9 family hypoxia-inducible factor 1 (HGNC Symbol)
Entrez gene 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]
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001666 [response to hypoxia] GO:0005506 [iron ion binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0016491 [oxidoreductase activity] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0016706 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors] GO:0018401 [peptidyl-proline hydroxylation to 4-hydroxy-L-proline] GO:0019899 [enzyme binding] GO:0030821 [negative regulation of cAMP catabolic process] GO:0031418 [L-ascorbic acid binding] GO:0031543 [peptidyl-proline dioxygenase activity] GO:0031545 [peptidyl-proline 4-dioxygenase activity] GO:0032364 [oxygen homeostasis] GO:0043433 [negative regulation of sequence-specific DNA binding transcription factor activity] GO:0045765 [regulation of angiogenesis] GO:0051344 [negative regulation of cyclic-nucleotide phosphodiesterase activity] GO:0055008 [cardiac muscle tissue morphogenesis] GO:0055114 [oxidation-reduction process] GO:0060347 [heart trabecula formation] GO:0060412 [ventricular septum morphogenesis] GO:0060711 [labyrinthine layer development] GO:0061418 [regulation of transcription from RNA polymerase II promoter in response to hypoxia] GO:0071456 [cellular response to hypoxia] GO:0071731 [response to nitric oxide]
