ENSG00000135766


Homo sapiens

Features
Gene ID: ENSG00000135766
  
Biological name :EGLN1
  
Synonyms : egl-9 family hypoxia inducible factor 1 / EGLN1 / Q9GZT9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q42.2
Gene start: 231363751
Gene end: 231425044
  
Corresponding Affymetrix probe sets: 221497_x_at (Human Genome U133 Plus 2.0 Array)   223045_at (Human Genome U133 Plus 2.0 Array)   223046_at (Human Genome U133 Plus 2.0 Array)   224314_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355601
NCBI entrez gene - 54583     See in Manteia.
OMIM - 606425
RefSeq - XM_005273167
RefSeq - NM_022051
RefSeq - XM_005273166
RefSeq Peptide - NP_071334
swissprot - R4SCQ0
swissprot - Q9GZT9
Ensembl - ENSG00000135766
  
Related genetic diseases (OMIM): 609070 - [Hemoglobin, high altitude adaptation], 609070
  609820 - Erythrocytosis, familial, 3, 609820
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 egln1aENSDARG00000038996Danio rerio
 egln1bENSDARG00000004632Danio rerio
 egln1bENSDARG00000105156Danio rerio
 EGLN1ENSGALG00000041422Gallus gallus
 Egln1ENSMUSG00000031987Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EGLN2 / Q96KS0 / egl-9 family hypoxia inducible factor 2ENSG0000026985839
EGLN3 / Q9H6Z9 / egl-9 family hypoxia inducible factor 3ENSG0000012952134
AC008537.1ENSG000002687978


Protein motifs (from Interpro)
Interpro ID Name
 IPR002893  Zinc finger, MYND-type
 IPR005123  Oxoglutarate/iron-dependent dioxygenase
 IPR006620  Prolyl 4-hydroxylase, alpha subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IDA
 biological_processGO:0006879 cellular iron ion homeostasis IEA
 biological_processGO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
 biological_processGO:0030821 obsolete negative regulation of cAMP catabolic process ISS
 biological_processGO:0032364 oxygen homeostasis IDA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0045765 regulation of angiogenesis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
 biological_processGO:0055008 cardiac muscle tissue morphogenesis IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060347 heart trabecula formation IEA
 biological_processGO:0060412 ventricular septum morphogenesis IEA
 biological_processGO:0060711 labyrinthine layer development IEA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0071731 response to nitric oxide IDA
 biological_processGO:1901214 regulation of neuron death IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO: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 IDA
 molecular_functionGO:0019899 enzyme binding ISS
 molecular_functionGO:0031418 L-ascorbic acid binding IEA
 molecular_functionGO:0031543 peptidyl-proline dioxygenase activity TAS
 molecular_functionGO:0031545 peptidyl-proline 4-dioxygenase activity EXP
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051213 dioxygenase activity IEA


Pathways (from Reactome)
Pathway description
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001898 Increased red blood cell mass 
Show

 HP:0001899 Increased hematocrit 
Show

 HP:0001900 Increased hemoglobin 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / complex
 ENSG00000131508 P62837 / UBE2D2 / ubiquitin conjugating enzyme E2 D2  / reaction
 ENSG00000103363 ELOB / Q15370 / elongin B  / complex
 ENSG00000134086 VHL / P40337 / von Hippel-Lindau tumor suppressor  / complex
 ENSG00000154582 ELOC / Q15369 / elongin C  / complex
 ENSG00000109332 P61077 / UBE2D3 / ubiquitin conjugating enzyme E2 D3  / reaction
 ENSG00000108094 CUL2 / Q13617 / cullin 2  / complex
 ENSG00000124440 HIF3A / Q9Y2N7 / hypoxia inducible factor 3 alpha subunit  / complex / reaction
 ENSG00000116016 EPAS1 / Q99814 / endothelial PAS domain protein 1  / complex / reaction
 ENSG00000144791 LIMD1 / Q9UGP4 / LIM domains containing 1  / complex
 ENSG00000100644 HIF1A / Q16665 / hypoxia inducible factor 1 alpha subunit  / complex / reaction
 ENSG00000072401 P51668 / UBE2D1 / ubiquitin conjugating enzyme E2 D1  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr