| Nomenclature | | HGNC (Hugo) | EGLN1 1232 |
| Entrez_Gene (NCBI) | EGLN1 54583 egl nine homolog 1 (C. elegans) |
| Cards |
|---|
| Atlas | EGLN1ID44140ch1q42 |
| GeneCards (Weizmann) | EGLN1 |
| Ensembl (Hinxton) | ENSG00000135766 [Gene_View] EGLN1 [Vega] |
| AceView (NCBI) | EGLN1 |
| Genatlas (Paris) | EGLN1 |
| euGene (Indiana) | 54583 |
| SOURCE (Stanford) | NM_022051
|
| Gene Expression (Array Express) |
ENSG00000135766
|
| Genomic and cartography |
|---|
| GoldenPath (UCSC) | EGLN1 - 1q42.2 chr1:231499497-231560790 - 1q42.1 [Description] (hg19-Feb_2009) |
| Ensembl | EGLN1 - 1q42.1 [CytoView] |
| Mapping of homologs : NCBI | EGLN1 [Mapview] |
| OMIM | 606425 609820 |
| Gene and transcription |
| Gene : Genbank (Entrez) | AF229245 AF277174 AF277176 AF334711 AI017372 |
| Reference sequence (RefSeq transcript) :SRS | NM_022051 |
| Reference transcript : Entrez | NM_022051 |
| RefSeq genomic : SRS | AC_000044 AC_000133 NC_000001 NG_015865 NT_167186 NW_001838549 NW_927128 |
| RefSeq genomic : Entrez | AC_000044 AC_000133 NC_000001 NG_015865 NT_167186 NW_001838549 NW_927128 |
| Consensus coding sequences : CCDS NCBI | EGLN1 |
| Cluster EST : Unigene | Hs.444450 [ SRS ] Hs.444450 [ NCBI ] |
| Alternative Splicing : Fast-db (Paris) | 17924 |
| Protein : pattern, domain, 3D structure |
|---|
| Protein : UniProt/SwissProt | Q9GZT9 (SRS) Q9GZT9 (Expasy) Q9GZT9 (Uniprot) |
| With graphics : InterPro | Q9GZT9 |
| Splice isoforms : VarSplice FASTA | Q9GZT9(VarSplice FASTA) |
| Domaine pattern : Prosite (SRS) | FE2OG_OXY (PS51471) ZF_MYND_1 (PS01360) ZF_MYND_2 (PS50865) |
| Domain pattern : Prosite (Expaxy) | FE2OG_OXY (PS51471) ZF_MYND_1 (PS01360) ZF_MYND_2 (PS50865) |
| Domains : Interpro (SRS) | Oxoglutarate/Fe-dep_oxygenase Pro_4_hyd_alph Znf_MYND |
| Domains : Interpro (EBI) | Oxoglutarate/Fe-dep_oxygenase Pro_4_hyd_alph Znf_MYND |
| Related proteins : CluSTr | Q9GZT9 |
| Domain families : Pfam SRS | 2OG-FeII_Oxy (PF03171) zf-MYND (PF01753) |
| Domain families : Pfam Sanger | 2OG-FeII_Oxy (PF03171) zf-MYND (PF01753) |
| Domain families : Pfam NCBI | pfam03171 pfam01753 |
| Domain families : Smart EMBL | P4Hc (SM00702) |
| Blocks (Seattle) | Q9GZT9 |
| Crystal structure of protein : PDB SRS | 2G19 2G1M 2HBT 2HBU 3HQR 3HQU |
| Crystal structure of protein : PDBSum | 2G19 2G1M 2HBT 2HBU 3HQR 3HQU |
| Crystal structure of protein : IMB | 2G19 2G1M 2HBT 2HBU 3HQR 3HQU |
| Crystal structure of protein : PDB RSDB | 2G19 2G1M 2HBT 2HBU 3HQR 3HQU |
| Human Protein Atlas | ENSG00000135766 |
| HPRD | 06971 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q9GZT9 |
| IntAct (EBI) | Q9GZT9 |
| FunCoup | ENSG00000135766 |
| Polymorphism : SNP, mutations, diseases |
|---|
| Single Nucleotide Polymorphism (SNP) : dbSNP NCBI | EGLN1 |
| SNP : GeneSNP Utah | EGLN1 |
| SNP : HGBase | EGLN1 |
| Genetic variants : HAPMAP | EGLN1 |
| Somatic Mutations in Cancer : COSMIC | EGLN1 |
| Mutations and Diseases : HGMD | EGLN1 |
| Hereditary diseases : OMIM | 606425 609820 |
| Hereditary diseases : GENETests | 606425 609820 |
| Diseases : Genetic Association | EGLN1 |
| General knowledge |
|---|
| Homologs : HomoloGene | EGLN1 |
| Homology/Alignments : Family Browser UCSC | EGLN1 |
| Phylogenetic Trees/Animal Genes : TreeFam | EGLN1 |
| Catalytic activity : Enzyme | 1.14.11.- [ Enzyme-Expasy ] 1.14.11.- [ Enzyme-SRS ] 1.14.11.- [ IntEnz-EBI ] 1.14.11.- [ BRENDA ] 1.14.11.- [ KEGG ] |
| Chemical/Protein Interactions : CTD | 54583 |
| Keywords Ontology : AmiGO | response to hypoxia embryonic placenta development iron ion binding protein binding cytosol heart development zinc ion binding oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen L-ascorbic acid binding peptidyl-proline dioxygenase activity oxygen homeostasis negative regulation of transcription factor activity metal ion binding oxidation reduction |
| Keywords Ontology : EGO-EBI | response to hypoxia embryonic placenta development iron ion binding protein binding cytosol heart development zinc ion binding oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen L-ascorbic acid binding peptidyl-proline dioxygenase activity oxygen homeostasis negative regulation of transcription factor activity metal ion binding oxidation reduction |
| Pathways : BIOCARTA | |
| Pathways : KEGG | Diterpenoid biosynthesis |
| Other databases |
|---|
| Probes |
|---|
| Probes : Imagenes | EGLN1 Related clones (RZPD - Berlin) |
| Literature |
|---|
| PubMed | 52 Pubmed reference(s) in Entrez |
| PubGene | EGLN1 |
| Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2. |
| Dupuy D, Aubert I, Dupˆ©rat VG, Petit J, Taine L, Stef M, Bloch B, Arveiler B |
| Genomics. 2000 ; 69 (3) : 348-354. |
| PMID 11056053 |
| |
| C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation. |
| Epstein AC, Gleadle JM, McNeill LA, Hewitson KS, O'Rourke J, Mole DR, Mukherji M, Metzen E, Wilson MI, Dhanda A, Tian YM, Masson N, Hamilton DL, Jaakkola P, Barstead R, Hodgkin J, Maxwell PH, Pugh CW, Schofield CJ, Ratcliffe PJ |
| Cell. 2001 ; 107 (1) : 43-54. |
| PMID 11595184 |
| |
| HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing. |
| Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin WG Jr |
| Science (New York, N.Y.). 2001 ; 292 (5516) : 464-468. |
| PMID 11292862 |
| |
| Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation. |
| Jaakkola P, Mole DR, Tian YM, Wilson MI, Gielbert J, Gaskell SJ, Kriegsheim Av, Hebestreit HF, Mukherji M, Schofield CJ, Maxwell PH, Pugh CW, Ratcliffe PJ |
| Science (New York, N.Y.). 2001 ; 292 (5516) : 468-472. |
| PMID 11292861 |
| |
| Characterization and comparative analysis of the EGLN gene family. |
| Taylor MS |
| Gene. 2001 ; 275 (1) : 125-132. |
| PMID 11574160 |
| |
| HIF prolyl-hydroxylase 2 is the key oxygen sensor setting low steady-state levels of HIF-1alpha in normoxia. |
| Berra E, Benizri E, Ginouvˆ®s A, Volmat V, Roux D, Pouyssˆ©gur J |
| The EMBO journal. 2003 ; 22 (16) : 4082-4090. |
| PMID 12912907 |
| |
| Characterization of the human prolyl 4-hydroxylases that modify the hypoxia-inducible factor. |
| Hirsilˆ§ M, Koivunen P, Gˆºnzler V, Kivirikko KI, Myllyharju J |
| The Journal of biological chemistry. 2003 ; 278 (33) : 30772-30780. |
| PMID 12788921 |
| |
| Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. |
| Metzen E, Berchner-Pfannschmidt U, Stengel P, Marxsen JH, Stolze I, Klinger M, Huang WQ, Wotzlaw C, Hellwig-Bˆºrgel T, Jelkmann W, Acker H, Fandrey J |
| Journal of cell science. 2003 ; 116 (Pt 7) : 1319-1326. |
| PMID 12615973 |
| |
| Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. |
| Appelhoff RJ, Tian YM, Raval RR, Turley H, Harris AL, Pugh CW, Ratcliffe PJ, Gleadle JM |
| The Journal of biological chemistry. 2004 ; 279 (37) : 38458-38465. |
| PMID 15247232 |
| |
| Regulation of the prolyl hydroxylase domain protein 2 (phd2/egln-1) gene: identification of a functional hypoxia-responsive element. |
| Metzen E, Stiehl DP, Doege K, Marxsen JH, Hellwig-Bˆºrgel T, Jelkmann W |
| The Biochemical journal. 2005 ; 387 (Pt 3) : 711-717. |
| PMID 15563275 |
| |
| Overexpression and nuclear translocation of hypoxia-inducible factor prolyl hydroxylase PHD2 in head and neck squamous cell carcinoma is associated with tumor aggressiveness. |
| Jokilehto T, Rantanen K, Luukkaa M, Heikkinen P, Grenman R, Minn H, Kronqvist P, Jaakkola PM |
| Clinical cancer research : an official journal of the American Association for Cancer Research. 2006 ; 12 (4) : 1080-1087. |
| PMID 16489060 |
| |
| A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. |
| Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF, Lee FS |
| Proceedings of the National Academy of Sciences of the United States of America. 2006 ; 103 (3) : 654-659. |
| PMID 16407130 |
| |
| Placental but not heart defects are associated with elevated hypoxia-inducible factor alpha levels in mice lacking prolyl hydroxylase domain protein 2. |
| Takeda K, Ho VC, Takeda H, Duan LJ, Nagy A, Fong GH |
| Molecular and cellular biology. 2006 ; 26 (22) : 8336-8346. |
| PMID 16966370 |
| |
| Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. |
| Al-Sheikh M, Moradkhani K, Lopez M, Wajcman H, Prˆ©hu C |
| Blood cells, molecules & diseases. 2008 ; 40 (2) : 160-165. |
| PMID 17933562 |
| |
| A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. |
| Percy MJ, Furlow PW, Beer PA, Lappin TR, McMullin MF, Lee FS |
| Blood. 2007 ; 110 (6) : 2193-2196. |
| PMID 17579185 |
| |