Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EDN1 (endothelin 1)

Identity

Alias_symbol (synonym)ET1
Other aliasARCND3
HDLCQ7
PPET1
QME
HGNC (Hugo) EDN1
LocusID (NCBI) 1906
Atlas_Id 45765
Location 6p24.1  [Link to chromosome band 6p24]
Location_base_pair Starts at 12290296 and ends at 12297194 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)EDN1   3176
Cards
Entrez_Gene (NCBI)EDN1  1906  endothelin 1
AliasesARCND3; ET1; HDLCQ7; PPET1; 
QME
GeneCards (Weizmann)EDN1
Ensembl hg19 (Hinxton)ENSG00000078401 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078401 [Gene_View]  ENSG00000078401 [Sequence]  chr6:12290296-12297194 [Contig_View]  EDN1 [Vega]
ICGC DataPortalENSG00000078401
TCGA cBioPortalEDN1
AceView (NCBI)EDN1
Genatlas (Paris)EDN1
WikiGenes1906
SOURCE (Princeton)EDN1
Genetics Home Reference (NIH)EDN1
Genomic and cartography
GoldenPath hg38 (UCSC)EDN1  -     chr6:12290296-12297194 +  6p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDN1  -     6p24.1   [Description]    (hg19-Feb_2009)
GoldenPathEDN1 - 6p24.1 [CytoView hg19]  EDN1 - 6p24.1 [CytoView hg38]
ImmunoBaseENSG00000078401
Mapping of homologs : NCBIEDN1 [Mapview hg19]  EDN1 [Mapview hg38]
OMIM131240   612798   615706   
Gene and transcription
Genbank (Entrez)AK226096 AK291838 AK307089 AK313914 AL548191
RefSeq transcript (Entrez)NM_001168319 NM_001955
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDN1
Alternative Splicing GalleryENSG00000078401
Gene ExpressionEDN1 [ NCBI-GEO ]   EDN1 [ EBI - ARRAY_EXPRESS ]   EDN1 [ SEEK ]   EDN1 [ MEM ]
Gene Expression Viewer (FireBrowse)EDN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1906
GTEX Portal (Tissue expression)EDN1
Human Protein AtlasENSG00000078401-EDN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05305   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05305  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05305
Splice isoforms : SwissVarP05305
PhosPhoSitePlusP05305
Domaine pattern : Prosite (Expaxy)ENDOTHELIN (PS00270)   
Domains : Interpro (EBI)Endothelin    Endothelin_toxin_CS    Endothln-like_toxin   
Domain families : Pfam (Sanger)Endothelin (PF00322)   
Domain families : Pfam (NCBI)pfam00322   
Domain families : Smart (EMBL)END (SM00272)  
Conserved Domain (NCBI)EDN1
DMDM Disease mutations1906
Blocks (Seattle)EDN1
PDB (RSDB)1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
PDB Europe1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
PDB (PDBSum)1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
PDB (IMB)1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
Structural Biology KnowledgeBase1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
SCOP (Structural Classification of Proteins)1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
CATH (Classification of proteins structures)1EDN    1EDP    1T7H    1V6R    5GLH    6DK5   
SuperfamilyP05305
Human Protein Atlas [tissue]ENSG00000078401-EDN1 [tissue]
Peptide AtlasP05305
HPRD07030
IPIIPI00008327   IPI00954578   IPI00743618   
Protein Interaction databases
DIP (DOE-UCLA)P05305
IntAct (EBI)P05305
FunCoupENSG00000078401
BioGRIDEDN1
STRING (EMBL)EDN1
ZODIACEDN1
Ontologies - Pathways
QuickGOP05305
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  prostaglandin biosynthetic process  branching involved in blood vessel morphogenesis  in utero embryonic development  histamine secretion  regulation of systemic arterial blood pressure by endothelin  cytokine activity  hormone activity  protein binding  extracellular region  extracellular space  cell  cytoplasm  regulation of pH  cell surface receptor signaling pathway  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  protein kinase C-activating G protein-coupled receptor signaling pathway  cell-cell signaling  heart development  respiratory gaseous exchange  body fluid secretion  positive regulation of cell proliferation  dorsal/ventral pattern formation  response to ozone  multicellular organism aging  positive regulation of heart rate  positive regulation of endothelial cell migration  positive regulation of cardiac muscle hypertrophy  regulation of glucose transmembrane transport  positive regulation of receptor biosynthetic process  neural crest cell development  phosphatidylinositol 3-kinase signaling  response to activity  artery smooth muscle contraction  artery smooth muscle contraction  vein smooth muscle contraction  regulation of vasoconstriction  sensory perception of pain  calcium-mediated signaling  peptide hormone secretion  transport vesicle  nitric oxide transport  negative regulation of blood coagulation  positive regulation of cell migration  neutrophil chemotaxis  phospholipase D-activating G protein-coupled receptor signaling pathway  endothelin A receptor binding  endothelin B receptor binding  endothelin B receptor binding  negative regulation of cellular protein metabolic process  positive regulation of prostaglandin secretion  response to lipopolysaccharide  Weibel-Palade body  response to testosterone  negative regulation of smooth muscle cell apoptotic process  response to prostaglandin F  response to nicotine  cellular response to drug  positive regulation of urine volume  positive regulation of renal sodium excretion  response to muscle stretch  epithelial fluid transport  vasoconstriction  protein kinase C deactivation  middle ear morphogenesis  positive regulation of odontogenesis  superoxide anion generation  rhythmic excitation  response to amino acid  positive regulation of MAP kinase activity  positive regulation of JUN kinase activity  response to leptin  basal part of cell  leukocyte activation  positive regulation of nitric oxide biosynthetic process  positive regulation of cell size  positive regulation of mitotic nuclear division  positive regulation of transcription by RNA polymerase II  positive regulation of smooth muscle contraction  positive regulation of hormone secretion  negative regulation of hormone secretion  inositol phosphate-mediated signaling  rough endoplasmic reticulum lumen  positive regulation of smooth muscle cell proliferation  positive regulation of DNA-binding transcription factor activity  cartilage development  positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway  negative regulation of nitric-oxide synthase biosynthetic process  membrane depolarization  regulation of sensory perception of pain  maternal process involved in parturition  positive regulation of sarcomere organization  positive regulation of prostaglandin-endoperoxide synthase activity  positive regulation of cell growth involved in cardiac muscle cell development  positive regulation of cell growth involved in cardiac muscle cell development  positive regulation of chemokine-mediated signaling pathway  cellular response to calcium ion  cellular response to interferon-gamma  cellular response to interleukin-1  cellular response to tumor necrosis factor  cellular response to peptide hormone stimulus  cellular response to glucocorticoid stimulus  cellular response to mineralocorticoid stimulus  cellular response to fatty acid  cellular response to hypoxia  response to dexamethasone  cellular response to transforming growth factor beta stimulus  positive regulation of neutrophil chemotaxis  positive regulation of NIK/NF-kappaB signaling  response to salt  positive regulation of vascular smooth muscle cell proliferation  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  prostaglandin biosynthetic process  branching involved in blood vessel morphogenesis  in utero embryonic development  histamine secretion  regulation of systemic arterial blood pressure by endothelin  cytokine activity  hormone activity  protein binding  extracellular region  extracellular space  cell  cytoplasm  regulation of pH  cell surface receptor signaling pathway  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  protein kinase C-activating G protein-coupled receptor signaling pathway  cell-cell signaling  heart development  respiratory gaseous exchange  body fluid secretion  positive regulation of cell proliferation  dorsal/ventral pattern formation  response to ozone  multicellular organism aging  positive regulation of heart rate  positive regulation of endothelial cell migration  positive regulation of cardiac muscle hypertrophy  regulation of glucose transmembrane transport  positive regulation of receptor biosynthetic process  neural crest cell development  phosphatidylinositol 3-kinase signaling  response to activity  artery smooth muscle contraction  artery smooth muscle contraction  vein smooth muscle contraction  regulation of vasoconstriction  sensory perception of pain  calcium-mediated signaling  peptide hormone secretion  transport vesicle  nitric oxide transport  negative regulation of blood coagulation  positive regulation of cell migration  neutrophil chemotaxis  phospholipase D-activating G protein-coupled receptor signaling pathway  endothelin A receptor binding  endothelin B receptor binding  endothelin B receptor binding  negative regulation of cellular protein metabolic process  positive regulation of prostaglandin secretion  response to lipopolysaccharide  Weibel-Palade body  response to testosterone  negative regulation of smooth muscle cell apoptotic process  response to prostaglandin F  response to nicotine  cellular response to drug  positive regulation of urine volume  positive regulation of renal sodium excretion  response to muscle stretch  epithelial fluid transport  vasoconstriction  protein kinase C deactivation  middle ear morphogenesis  positive regulation of odontogenesis  superoxide anion generation  rhythmic excitation  response to amino acid  positive regulation of MAP kinase activity  positive regulation of JUN kinase activity  response to leptin  basal part of cell  leukocyte activation  positive regulation of nitric oxide biosynthetic process  positive regulation of cell size  positive regulation of mitotic nuclear division  positive regulation of transcription by RNA polymerase II  positive regulation of smooth muscle contraction  positive regulation of hormone secretion  negative regulation of hormone secretion  inositol phosphate-mediated signaling  rough endoplasmic reticulum lumen  positive regulation of smooth muscle cell proliferation  positive regulation of DNA-binding transcription factor activity  cartilage development  positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway  negative regulation of nitric-oxide synthase biosynthetic process  membrane depolarization  regulation of sensory perception of pain  maternal process involved in parturition  positive regulation of sarcomere organization  positive regulation of prostaglandin-endoperoxide synthase activity  positive regulation of cell growth involved in cardiac muscle cell development  positive regulation of cell growth involved in cardiac muscle cell development  positive regulation of chemokine-mediated signaling pathway  cellular response to calcium ion  cellular response to interferon-gamma  cellular response to interleukin-1  cellular response to tumor necrosis factor  cellular response to peptide hormone stimulus  cellular response to glucocorticoid stimulus  cellular response to mineralocorticoid stimulus  cellular response to fatty acid  cellular response to hypoxia  response to dexamethasone  cellular response to transforming growth factor beta stimulus  positive regulation of neutrophil chemotaxis  positive regulation of NIK/NF-kappaB signaling  response to salt  positive regulation of vascular smooth muscle cell proliferation  
Pathways : KEGGHIF-1 signaling pathway    TNF signaling pathway    Melanogenesis   
NDEx NetworkEDN1
Atlas of Cancer Signalling NetworkEDN1
Wikipedia pathwaysEDN1
Orthology - Evolution
OrthoDB1906
GeneTree (enSembl)ENSG00000078401
Phylogenetic Trees/Animal Genes : TreeFamEDN1
HOGENOMP05305
Homologs : HomoloGeneEDN1
Homology/Alignments : Family Browser (UCSC)EDN1
Gene fusions - Rearrangements
Fusion : QuiverEDN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDN1
dbVarEDN1
ClinVarEDN1
1000_GenomesEDN1 
Exome Variant ServerEDN1
ExAC (Exome Aggregation Consortium)ENSG00000078401
GNOMAD BrowserENSG00000078401
Varsome BrowserEDN1
Genetic variants : HAPMAP1906
Genomic Variants (DGV)EDN1 [DGVbeta]
DECIPHEREDN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDN1 
Mutations
ICGC Data PortalEDN1 
TCGA Data PortalEDN1 
Broad Tumor PortalEDN1
OASIS PortalEDN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEDN1
Mutations and Diseases : HGMDEDN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EDN1
DgiDB (Drug Gene Interaction Database)EDN1
DoCM (Curated mutations)EDN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDN1 (select a term)
intoGenEDN1
Cancer3DEDN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM131240    612798    615706   
Orphanet16737   
DisGeNETEDN1
MedgenEDN1
Genetic Testing Registry EDN1
NextProtP05305 [Medical]
TSGene1906
GENETestsEDN1
Target ValidationEDN1
Huge Navigator EDN1 [HugePedia]
snp3D : Map Gene to Disease1906
BioCentury BCIQEDN1
ClinGenEDN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1906
Chemical/Pharm GKB GenePA27614
Clinical trialEDN1
Miscellaneous
canSAR (ICR)EDN1 (select the gene name)
HarmonizomeEDN1
DataMed IndexEDN1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDN1
EVEXEDN1
GoPubMedEDN1
iHOPEDN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Mar 11 19:05:01 CET 2020
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