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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Enzymes FDA approved drug targets Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.2
Chromosome location (bp)
40798996 - 40808434
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as ATF4, IKBKB, CEP192 and HIF1A 1,2,3,4,5,6. Target proteins are preferentially recognized via a LXXLAP motif 7,8,9. Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins 10,11,12,13,14. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A 15,16,17,18. Also hydroxylates HIF2A 19,20,21. Has a preference for the CODD site for both HIF1A and HIF2A 22,23,24. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex 25,26,27. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes 28,29,30. EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle 31,32,33. Also regulates susceptibility to normoxic oxidative neuronal death 34,35,36. Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation 37. Hydroxylates IKBKB, mediating NF-kappa-B activation in hypoxic conditions 38. Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Dioxygenase, Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding, Vitamin C
Gene summary (Entrez)i
Useful information about the gene from Entrez
The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0001558[regulation of cell growth] GO:0001666[response to hypoxia] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0008198[ferrous iron binding] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0016706[2-oxoglutarate-dependent dioxygenase activity] GO:0018401[peptidyl-proline hydroxylation to 4-hydroxy-L-proline] GO:0019826[oxygen sensor activity] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0031418[L-ascorbic acid binding] GO:0031543[peptidyl-proline dioxygenase activity] GO:0031545[peptidyl-proline 4-dioxygenase activity] GO:0043523[regulation of neuron apoptotic process] GO:0045454[cell redox homeostasis] GO:0045732[positive regulation of protein catabolic process] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity] GO:0071456[cellular response to hypoxia]
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001558[regulation of cell growth] GO:0001666[response to hypoxia] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0008198[ferrous iron binding] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0016706[2-oxoglutarate-dependent dioxygenase activity] GO:0018401[peptidyl-proline hydroxylation to 4-hydroxy-L-proline] GO:0019826[oxygen sensor activity] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0031418[L-ascorbic acid binding] GO:0031543[peptidyl-proline dioxygenase activity] GO:0031545[peptidyl-proline 4-dioxygenase activity] GO:0043523[regulation of neuron apoptotic process] GO:0045454[cell redox homeostasis] GO:0045732[positive regulation of protein catabolic process] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity] GO:0071456[cellular response to hypoxia]
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001558[regulation of cell growth] GO:0001666[response to hypoxia] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0008198[ferrous iron binding] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0016706[2-oxoglutarate-dependent dioxygenase activity] GO:0018401[peptidyl-proline hydroxylation to 4-hydroxy-L-proline] GO:0019826[oxygen sensor activity] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0031418[L-ascorbic acid binding] GO:0031543[peptidyl-proline dioxygenase activity] GO:0031545[peptidyl-proline 4-dioxygenase activity] GO:0043523[regulation of neuron apoptotic process] GO:0045454[cell redox homeostasis] GO:0045732[positive regulation of protein catabolic process] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity] GO:0071456[cellular response to hypoxia]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC
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GO:0005506[iron ion binding] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0031418[L-ascorbic acid binding] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity]
The Human Protein Atlas project is funded
