Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

EGLN1_HUMAN

Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. 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. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recognized via a LXXLAP motif. [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
317 Pro Arg Erythrocytosis,familial,3(ECYT3) -
371 Arg His Erythrocytosis,familial,3(ECYT3) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in EGLN1_HUMAN
GO:0017076 purine nucleotide binding 59.2593 4 no
GO:0032555 purine ribonucleotide binding 59.2593 4 no
GO:0035639 purine ribonucleoside triphosphate binding 59.2593 4 no
GO:0005524 ATP binding 51.8519 5 no
GO:0030554 adenyl nucleotide binding 51.8519 5 no
GO:0032559 adenyl ribonucleotide binding 51.8519 5 no
GO:0004712 protein serine/threonine/tyrosine kinase activity 40.7407 4 no
GO:0016301 kinase activity 40.7407 4 no
GO:0016773 phosphotransferase activity, alcohol group as acceptor 40.7407 4 no
GO:0046872 metal ion binding 25.9259 4 yes
GO:0019900 kinase binding 25.9259 4 no
GO:0019901 protein kinase binding 25.9259 5 no
GO:0003723 RNA binding 22.2222 4 no
GO:0004713 protein tyrosine kinase activity 22.2222 4 no
GO:0046914 transition metal ion binding 14.8148 5 yes
GO:0005506 iron ion binding 7.4074 6 yes
GO:0008198 ferrous iron binding 7.4074 7 yes
GO:0016706 2-oxoglutarate-dependent dioxygenase activity 7.4074 4 yes
GO:0031406 carboxylic acid binding 7.4074 4 yes
GO:0031545 peptidyl-proline 4-dioxygenase activity 7.4074 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in EGLN1_HUMAN
GO:0051171 regulation of nitrogen compound metabolic process 81.4815 4 yes
GO:0060255 regulation of macromolecule metabolic process 81.4815 4 yes
GO:0080090 regulation of primary metabolic process 81.4815 4 yes
GO:0031323 regulation of cellular metabolic process 77.7778 4 yes
GO:0048522 positive regulation of cellular process 77.7778 4 no
GO:0010468 regulation of gene expression 70.3704 5 yes
GO:0010646 regulation of cell communication 70.3704 4 no
GO:0009893 positive regulation of metabolic process 66.6667 4 no
GO:0009966 regulation of signal transduction 66.6667 4 no
GO:0019219 regulation of nucleobase-containing compound metabolic process 62.9630 5 yes
GO:0010604 positive regulation of macromolecule metabolic process 62.9630 5 no
GO:0048523 negative regulation of cellular process 62.9630 4 no
GO:0051173 positive regulation of nitrogen compound metabolic process 62.9630 5 no
GO:0009889 regulation of biosynthetic process 59.2593 4 yes
GO:0031326 regulation of cellular biosynthetic process 59.2593 5 yes
GO:0051246 regulation of protein metabolic process 59.2593 5 no
GO:0010556 regulation of macromolecule biosynthetic process 55.5556 5 yes
GO:0036211 protein modification process 55.5556 4 yes
GO:0043412 macromolecule modification 55.5556 4 yes
GO:0010941 regulation of cell death 55.5556 4 no
GO:0031325 positive regulation of cellular metabolic process 55.5556 5 no
GO:1902531 regulation of intracellular signal transduction 55.5556 5 no
GO:0010647 positive regulation of cell communication 55.5556 5 no
GO:0023056 positive regulation of signaling 55.5556 4 no
GO:0048584 positive regulation of response to stimulus 55.5556 4 no
GO:0019220 regulation of phosphate metabolic process 51.8519 6 no
GO:0031399 regulation of protein modification process 51.8519 6 no
GO:0042325 regulation of phosphorylation 51.8519 7 no
GO:0051174 regulation of phosphorus metabolic process 51.8519 5 no
GO:0051247 positive regulation of protein metabolic process 51.8519 6 no
GO:0009967 positive regulation of signal transduction 51.8519 5 no
GO:0051252 regulation of RNA metabolic process 48.1481 5 yes
GO:0010562 positive regulation of phosphorus metabolic process 48.1481 6 no
GO:0042327 positive regulation of phosphorylation 48.1481 8 no
GO:0042981 regulation of apoptotic process 48.1481 6 no
GO:0043067 regulation of programmed cell death 48.1481 5 no
GO:0045937 positive regulation of phosphate metabolic process 48.1481 7 no
GO:0006355 regulation of DNA-templated transcription 44.4444 6 yes
GO:0018193 peptidyl-amino acid modification 44.4444 5 yes
GO:1903506 regulation of nucleic acid-templated transcription 44.4444 7 yes
GO:2001141 regulation of RNA biosynthetic process 44.4444 6 yes
GO:0009892 negative regulation of metabolic process 44.4444 4 no
GO:0031401 positive regulation of protein modification process 44.4444 7 no
GO:0042127 regulation of cell population proliferation 44.4444 4 no
GO:0051128 regulation of cellular component organization 44.4444 4 no
GO:1902533 positive regulation of intracellular signal transduction 44.4444 6 no
GO:0001932 regulation of protein phosphorylation 40.7407 7 no
GO:0009894 regulation of catabolic process 40.7407 4 no
GO:0010605 negative regulation of macromolecule metabolic process 40.7407 5 no
GO:0060548 negative regulation of cell death 40.7407 5 no
GO:0001934 positive regulation of protein phosphorylation 37.0370 8 no
GO:0006468 protein phosphorylation 37.0370 5 no
GO:0006796 phosphate-containing compound metabolic process 37.0370 4 no
GO:0006996 organelle organization 37.0370 4 no
GO:0008284 positive regulation of cell population proliferation 37.0370 5 no
GO:0009891 positive regulation of biosynthetic process 37.0370 5 no
GO:0016310 phosphorylation 37.0370 5 no
GO:0031328 positive regulation of cellular biosynthetic process 37.0370 6 no
GO:0043066 negative regulation of apoptotic process 37.0370 7 no
GO:0043069 negative regulation of programmed cell death 37.0370 6 no
GO:0043085 positive regulation of catalytic activity 37.0370 4 no
GO:0045595 regulation of cell differentiation 37.0370 4 no
GO:0045935 positive regulation of nucleobase-containing compound metabolic process 37.0370 6 no
GO:0051094 positive regulation of developmental process 37.0370 4 no
GO:0051172 negative regulation of nitrogen compound metabolic process 37.0370 5 no
GO:0051336 regulation of hydrolase activity 33.3333 4 yes
GO:0010557 positive regulation of macromolecule biosynthetic process 33.3333 6 no
GO:0010628 positive regulation of gene expression 33.3333 6 no
GO:0031324 negative regulation of cellular metabolic process 33.3333 5 no
GO:0051240 positive regulation of multicellular organismal process 33.3333 4 no
GO:0080134 regulation of response to stress 33.3333 4 no
GO:0007167 enzyme-linked receptor protein signaling pathway 29.6296 4 no
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway 29.6296 5 no
GO:0010243 response to organonitrogen compound 29.6296 4 no
GO:0033043 regulation of organelle organization 29.6296 5 no
GO:0033674 positive regulation of kinase activity 29.6296 6 no
GO:0043549 regulation of kinase activity 29.6296 5 no
GO:0051049 regulation of transport 29.6296 4 no
GO:0051338 regulation of transferase activity 29.6296 4 no
GO:0051347 positive regulation of transferase activity 29.6296 5 no
GO:0051726 regulation of cell cycle 29.6296 4 no
GO:0071310 cellular response to organic substance 29.6296 4 no
GO:0051130 positive regulation of cellular component organization 29.6296 5 no
GO:0032101 regulation of response to external stimulus 29.6296 4 no
GO:0022607 cellular component assembly 29.6296 4 no
GO:0043408 regulation of MAPK cascade 29.6296 6 no
GO:0022603 regulation of anatomical structure morphogenesis 25.9259 4 yes
GO:2000026 regulation of multicellular organismal development 25.9259 4 yes
GO:0002684 positive regulation of immune system process 25.9259 4 no
GO:0006357 regulation of transcription by RNA polymerase II 25.9259 7 no
GO:0010648 negative regulation of cell communication 25.9259 5 no
GO:0023057 negative regulation of signaling 25.9259 4 no
GO:0030334 regulation of cell migration 25.9259 5 no
GO:0030335 positive regulation of cell migration 25.9259 6 no
GO:0031329 regulation of cellular catabolic process 25.9259 5 no
GO:0031344 regulation of cell projection organization 25.9259 5 no
GO:0032880 regulation of protein localization 25.9259 5 no
GO:0040017 positive regulation of locomotion 25.9259 4 no
GO:0051050 positive regulation of transport 25.9259 4 no
GO:0051248 negative regulation of protein metabolic process 25.9259 6 no
GO:0060341 regulation of cellular localization 25.9259 4 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 25.9259 6 no
GO:2000145 regulation of cell motility 25.9259 4 no
GO:2000147 positive regulation of cell motility 25.9259 5 no
GO:0044087 regulation of cellular component biogenesis 25.9259 4 no
GO:0030030 cell projection organization 25.9259 4 no
GO:0007010 cytoskeleton organization 25.9259 5 no
GO:0043410 positive regulation of MAPK cascade 25.9259 7 no
GO:0006915 apoptotic process 22.2222 4 no
GO:0008104 protein localization 22.2222 4 no
GO:0009896 positive regulation of catabolic process 22.2222 5 no
GO:0009968 negative regulation of signal transduction 22.2222 5 no
GO:0018105 peptidyl-serine phosphorylation 22.2222 6 no
GO:0018209 peptidyl-serine modification 22.2222 6 no
GO:0030162 regulation of proteolysis 22.2222 6 no
GO:0042176 regulation of protein catabolic process 22.2222 5 no
GO:0045597 positive regulation of cell differentiation 22.2222 5 no
GO:0045859 regulation of protein kinase activity 22.2222 6 no
GO:0045860 positive regulation of protein kinase activity 22.2222 7 no
GO:0045893 positive regulation of DNA-templated transcription 22.2222 7 no
GO:0046777 protein autophosphorylation 22.2222 6 no
GO:0048585 negative regulation of response to stimulus 22.2222 4 no
GO:0050865 regulation of cell activation 22.2222 4 no
GO:0051052 regulation of DNA metabolic process 22.2222 5 no
GO:0051054 positive regulation of DNA metabolic process 22.2222 6 no
GO:0051254 positive regulation of RNA metabolic process 22.2222 6 no
GO:0051345 positive regulation of hydrolase activity 22.2222 5 no
GO:0071702 organic substance transport 22.2222 4 no
GO:1901701 cellular response to oxygen-containing compound 22.2222 4 no
GO:1902680 positive regulation of RNA biosynthetic process 22.2222 7 no
GO:1903320 regulation of protein modification by small protein conjugation or removal 22.2222 7 no
GO:1903508 positive regulation of nucleic acid-templated transcription 22.2222 8 no
GO:1903829 positive regulation of protein localization 22.2222 5 no
GO:0014070 response to organic cyclic compound 22.2222 4 no
GO:0001817 regulation of cytokine production 22.2222 4 no
GO:0032103 positive regulation of response to external stimulus 22.2222 5 no
GO:0050776 regulation of immune response 22.2222 4 no
GO:0016192 vesicle-mediated transport 22.2222 4 no
GO:0036293 response to decreased oxygen levels 18.5185 4 yes
GO:0048878 chemical homeostasis 18.5185 4 yes
GO:0036294 cellular response to decreased oxygen levels 14.8148 5 yes
GO:0043086 negative regulation of catalytic activity 14.8148 4 yes
GO:0045765 regulation of angiogenesis 14.8148 5 yes
GO:0051346 negative regulation of hydrolase activity 14.8148 5 yes
GO:0071453 cellular response to oxygen levels 14.8148 4 yes
GO:1901342 regulation of vasculature development 14.8148 5 yes
GO:0018208 peptidyl-proline modification 11.1111 6 yes
GO:0071456 cellular response to hypoxia 11.1111 4 yes
GO:0018126 protein hydroxylation 7.4074 5 yes
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline 7.4074 7 yes
GO:0019511 peptidyl-proline hydroxylation 7.4074 6 yes
GO:0032364 oxygen homeostasis 7.4074 6 yes
GO:0033483 gas homeostasis 7.4074 5 yes
GO:0043433 negative regulation of DNA-binding transcription factor activity 7.4074 4 yes
GO:0051342 regulation of cyclic-nucleotide phosphodiesterase activity 7.4074 5 yes
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity 7.4074 6 yes
GO:0071731 response to nitric oxide 7.4074 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in EGLN1_HUMAN
DOID:10780 primary polycythemia 11.1111 5 yes
DOID:4961 bone marrow disease 11.1111 3 yes
DOID:8432 polycythemia 11.1111 4 yes
DOID:0050686 organ system cancer 11.1111 3 no
DOID:0080338 familial erythrocytosis 3 7.4074 6 yes
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
FKBP8_HUMAN [view entry] [view interactions] Low throughput yes yes
HIF1A_HUMAN [view interactions] Low throughput no no
OS9_HUMAN [view interactions] Low throughput no yes
EPAS1_HUMAN [view interactions] Low throughput no no
KPYM_HUMAN [view interactions] Low throughput no yes
ING4_HUMAN [view interactions] Low throughput no no
MAGAB_HUMAN [view interactions] Low throughput no no
RPB1_HUMAN [view interactions] Low throughput no no
OSR1_HUMAN [view interactions] Low throughput no no
SIAH2_HUMAN [view interactions] Low throughput no no
EGLN1_HUMAN [view entry] [view interactions] Low throughput yes yes
EGLN3_HUMAN [view interactions] Low throughput no no
SPY2_HUMAN [view interactions] Low throughput no yes
SRC_HUMAN [view entry] [view interactions] Low throughput yes no
VHL_HUMAN [view entry] [view interactions] Low throughput yes yes
MAGA9_HUMAN [view interactions] Low throughput no no
PLD1_HUMAN [view interactions] Low throughput no no
PLD2_HUMAN [view interactions] Low throughput no yes
PHLD_HUMAN [view interactions] Low throughput no no
TEBP_HUMAN [view interactions] Low throughput no yes
HS90A_HUMAN [view entry] [view interactions] Low throughput yes yes
HS90B_HUMAN [view entry] [view interactions] Low throughput yes yes
MTG16_HUMAN [view interactions] Low throughput no yes
RUNX3_HUMAN [view interactions] Low throughput no no
SH3K1_HUMAN [view entry] [view interactions] Low throughput yes yes
TET2_HUMAN [view interactions] Low throughput no yes
TET3_HUMAN [view interactions] Low throughput no yes
TBK1_HUMAN [view entry] [view interactions] Low throughput yes yes
MTG8_HUMAN [view interactions] Low throughput no yes
H31_HUMAN [view interactions] Low throughput no yes
SDCB1_HUMAN [view entry] [view interactions] High throughput yes yes
FKBP5_HUMAN [view interactions] High throughput no yes
ERP29_HUMAN [view interactions] High throughput no yes
JUN_HUMAN [view interactions] High throughput no yes
RASK_HUMAN [view entry] [view interactions] High throughput yes no
ZN281_HUMAN [view interactions] High throughput no no
MKS1_HUMAN [view interactions] High throughput no no
CALX_HUMAN [view entry] [view interactions] High throughput yes yes
EZRI_HUMAN [view entry] [view interactions] High throughput yes no
ALK_HUMAN [view entry] [view interactions] High throughput yes yes
EGFR_HUMAN [view interactions] High throughput no no
ERBB2_HUMAN [view entry] [view interactions] High throughput yes no
FGFR3_HUMAN [view interactions] High throughput no yes
FGFR4_HUMAN [view interactions] High throughput no no
VGFR3_HUMAN [view interactions] High throughput no yes
IGF1R_HUMAN [view entry] [view interactions] High throughput yes yes
LMTK1_HUMAN [view interactions] High throughput no yes
NTRK3_HUMAN [view entry] [view interactions] High throughput yes yes
LIMD1_HUMAN [view interactions] High throughput no yes
RFPLB_HUMAN [view interactions] High throughput no no
PEX19_HUMAN [view interactions] High throughput no yes
SPN1_HUMAN [view interactions] High throughput no yes
CBWD1_HUMAN [view interactions] High throughput no yes
CBWD2_HUMAN [view interactions] High throughput no no
RHBT3_HUMAN [view interactions] High throughput no no
FKBP4_HUMAN [view entry] [view interactions] High throughput yes yes
EFMT1_HUMAN [view interactions] High throughput no no
AKT1_HUMAN [view entry] [view interactions] High throughput yes yes
AKT2_HUMAN [view entry] [view interactions] High throughput yes yes
PKHA4_HUMAN [view interactions] High throughput no yes
ARNT_HUMAN [view entry] [view interactions] High throughput yes yes
CUL3_HUMAN [view entry] [view interactions] High throughput yes yes
KEAP1_HUMAN [view interactions] High throughput no yes
BRD4_HUMAN [view interactions] High throughput no yes
ABC3C_HUMAN [view interactions] High throughput no no
BTF3_HUMAN [view interactions] High throughput no yes
CITE1_HUMAN [view interactions] High throughput no no
CLU_HUMAN [view interactions] High throughput no yes
ATG12_HUMAN [view interactions] High throughput no yes
ANKY2_HUMAN [view interactions] High throughput no no
PYGL_HUMAN [view interactions] High throughput no yes
RMD3_HUMAN [view interactions] High throughput no yes
AKAP1_HUMAN [view entry] [view interactions] High throughput yes yes
LCK_HUMAN [view entry] [view interactions] High throughput yes no
RPB3_HUMAN [view interactions] High throughput no yes
TBA4A_HUMAN [view entry] [view interactions] High throughput yes yes
NAA40_HUMAN [view interactions] High throughput no no
HIF3A_HUMAN [view interactions] Computational no yes
UB2D3_HUMAN [view interactions] Computational no yes
UB2D1_HUMAN [view interactions] Computational no yes
H37_HUMAN [view interactions] Computational no no
KPCG_HUMAN [view entry] [view interactions] Computational yes yes
ELOB_HUMAN [view interactions] Computational no no
EGLN2_HUMAN [view interactions] Computational no no
AIRE_HUMAN [view interactions] Computational no no
UB2D2_HUMAN [view interactions] Computational no yes
KPCA_HUMAN [view entry] [view interactions] Computational yes yes
ELOC_HUMAN [view interactions] Computational no no