Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EDN1 (endothelin 1)

Identity

Other namesET1
HDLCQ7
PPET1
HGNC (Hugo) EDN1
LocusID (NCBI) 1906
Location 6p24.1
Location_base_pair Starts at 12290529 and ends at 12297427 bp from pter ( according to hg19-Feb_2009)
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
Entrez_Gene (NCBI)EDN1  1906  endothelin 1
Cards
GeneCards (Weizmann)EDN1
Ensembl (Hinxton)ENSG00000078401 [Gene_View]  chr6:12290529-12297427 [Contig_View]  EDN1 [Vega]
AceView (NCBI)EDN1
Genatlas (Paris)EDN1
SOURCE (Stanford)NM_001168319 NM_001955
Genomic and cartography
GoldenPath (UCSC)EDN1  -  6p24.1   chr6:12290529-12297427 +  6p24.1   [Description]    (hg19-Feb_2009)
EnsemblEDN1 - 6p24.1 [CytoView]
Mapping of homologs : NCBIEDN1 [Mapview]
OMIM131240   
Gene and transcription
Genbank (Entrez)AK226096 AK291838 AK307089 AK313914 AL548191
RefSeq transcript (SRS)NM_001168319 NM_001955
RefSeq transcript (Entrez)NM_001168319 NM_001955
RefSeq genomic (SRS)AC_000138 NC_000006 NC_018917 NG_016196 NT_007592 NW_001838973 NW_004078026
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_016196 NT_007592 NW_001838973 NW_004078026
Consensus coding sequences : CCDS (NCBI)EDN1
Cluster EST : UnigeneHs.713645 [ SRS ] Hs.713645 [ NCBI ]
CGAP (NCI)Hs.713645
Alternative Splicing : Fast-db (Paris)GSHG0025428
Alternative Splicing GalleryENSG00000078401
Gene ExpressionEDN1 [ NCBI-GEO ]   EDN1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05305 (SRS) P05305 (Uniprot)
NextProtP05305
With graphics : InterProP05305
Splice isoforms : SwissVarP05305(Swissvar)
Domaine pattern : Prosite (SRS)ENDOTHELIN (PS00270)   
Domaine pattern : Prosite (Expaxy)ENDOTHELIN (PS00270)   
Domains : Interpro (SRS)Bibrotoxin/Sarafotoxin-D    Endothelin_toxin_CS    Endothln-like_toxin   
Domains : Interpro (EBI)Bibrotoxin/Sarafotoxin-D    Endothelin_toxin_CS    Endothln-like_toxin   
Related proteins : CluSTrP05305
Domain families : Pfam (SRS)Endothelin (PF00322)   
Domain families : Pfam (Sanger)Endothelin (PF00322)   
Domain families : Pfam (NCBI)pfam00322   
Domain families : Smart (EMBL)END (SM00272)  
DMDM1906
Blocks (Seattle)P05305
PDB (SRS)1EDN    1EDP    1T7H    1V6R   
PDB (PDBSum)1EDN    1EDP    1T7H    1V6R   
PDB (IMB)1EDN    1EDP    1T7H    1V6R   
PDB (RSDB)1EDN    1EDP    1T7H    1V6R   
Human Protein AtlasENSG00000078401
HPRD07030
IPIIPI00008327   IPI00954578   IPI00743618   
Protein Interaction databases
DIP (DOE-UCLA)P05305
IntAct (EBI)P05305
FunCoupENSG00000078401
REACTOMEEDN1
Protein Interaction Database1906
BioGRIDEDN1
InParanoidP05305
Interologous Interaction database P05305
IntegromeDBEDN1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)EDN1
SNP (GeneSNP Utah)EDN1
SNP : HGBaseEDN1
Genetic variants : HAPMAPEDN1
Somatic Mutations in Cancer : COSMICEDN1 
CONAN: Copy Number AnalysisEDN1 
Mutations and Diseases : HGMDEDN1
OMIM131240   
GENETests131240   
Disease Genetic AssociationEDN1
Huge Navigator EDN1 [HugePedia]  EDN1 [HugeCancerGEM]
Genomic VariantsEDN1  EDN1 [DGVbeta]
snp3D : Map Gene to Disease1906
General knowledge
Homologs : HomoloGeneEDN1
Homology/Alignments : Family Browser (UCSC)EDN1
Phylogenetic Trees/Animal Genes : TreeFamEDN1
Chemical/Protein Interactions : CTD1906
Chemical/Pharm GKB GenePA27614
Clinical trialEDN1
Cancer Resource (Charite)ENSG00000078401
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  prostaglandin biosynthetic process  patterning of blood vessels  response to hypoxia  in utero embryonic development  histamine secretion  regulation of systemic arterial blood pressure by endothelin  cytokine activity  hormone activity  extracellular region  extracellular space  cytoplasm  regulation of pH  cell surface receptor signaling pathway  G-protein coupled receptor signaling pathway  elevation of cytosolic calcium ion concentration  protein kinase C-activating G-protein coupled receptor signaling pathway  intracellular protein kinase cascade  cell-cell signaling  heart development  respiratory gaseous exchange  body fluid secretion  positive regulation of cell proliferation  dorsal/ventral pattern formation  multicellular organismal aging  positive regulation of heart rate  positive regulation of endothelial cell migration  positive regulation of cardiac muscle hypertrophy  positive regulation of receptor biosynthetic process  neural crest cell development  phosphatidylinositol 3-kinase cascade  artery smooth muscle contraction  artery smooth muscle contraction  vein smooth muscle contraction  glucose transport  cell growth  regulation of vasoconstriction  sensory perception of pain  calcium-mediated signaling  peptide hormone secretion  nitric oxide transport  negative regulation of blood coagulation  positive regulation of cell migration  neutrophil chemotaxis  negative regulation of cAMP biosynthetic process  phospholipase D-activating G-protein coupled receptor signaling pathway  endothelin A receptor binding  endothelin B receptor binding  negative regulation of cellular protein metabolic process  response to lipopolysaccharide  response to testosterone stimulus  negative regulation of smooth muscle cell apoptotic process  response to nicotine  positive regulation of urine volume  positive regulation of renal sodium excretion  epithelial fluid transport  vasoconstriction  protein kinase C deactivation  middle ear morphogenesis  positive regulation of odontogenesis  superoxide anion generation  rhythmic excitation  response to amino acid stimulus  positive regulation of MAP kinase activity  positive regulation of JUN kinase activity  leukocyte activation  positive regulation of nitric oxide biosynthetic process  positive regulation of cell size  positive regulation of mitosis  positive regulation of smooth muscle contraction  positive regulation of hormone secretion  negative regulation of hormone secretion  inositol phosphate-mediated signaling  positive regulation of smooth muscle cell proliferation  cartilage development  elevation 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 chemokine-mediated signaling pathway  cellular response to interleukin-1  cellular response to tumor necrosis factor  positive regulation of neutrophil chemotaxis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  prostaglandin biosynthetic process  patterning of blood vessels  response to hypoxia  in utero embryonic development  histamine secretion  regulation of systemic arterial blood pressure by endothelin  cytokine activity  hormone activity  extracellular region  extracellular space  cytoplasm  regulation of pH  cell surface receptor signaling pathway  G-protein coupled receptor signaling pathway  elevation of cytosolic calcium ion concentration  protein kinase C-activating G-protein coupled receptor signaling pathway  intracellular protein kinase cascade  cell-cell signaling  heart development  respiratory gaseous exchange  body fluid secretion  positive regulation of cell proliferation  dorsal/ventral pattern formation  multicellular organismal aging  positive regulation of heart rate  positive regulation of endothelial cell migration  positive regulation of cardiac muscle hypertrophy  positive regulation of receptor biosynthetic process  neural crest cell development  phosphatidylinositol 3-kinase cascade  artery smooth muscle contraction  artery smooth muscle contraction  vein smooth muscle contraction  glucose transport  cell growth  regulation of vasoconstriction  sensory perception of pain  calcium-mediated signaling  peptide hormone secretion  nitric oxide transport  negative regulation of blood coagulation  positive regulation of cell migration  neutrophil chemotaxis  negative regulation of cAMP biosynthetic process  phospholipase D-activating G-protein coupled receptor signaling pathway  endothelin A receptor binding  endothelin B receptor binding  negative regulation of cellular protein metabolic process  response to lipopolysaccharide  response to testosterone stimulus  negative regulation of smooth muscle cell apoptotic process  response to nicotine  positive regulation of urine volume  positive regulation of renal sodium excretion  epithelial fluid transport  vasoconstriction  protein kinase C deactivation  middle ear morphogenesis  positive regulation of odontogenesis  superoxide anion generation  rhythmic excitation  response to amino acid stimulus  positive regulation of MAP kinase activity  positive regulation of JUN kinase activity  leukocyte activation  positive regulation of nitric oxide biosynthetic process  positive regulation of cell size  positive regulation of mitosis  positive regulation of smooth muscle contraction  positive regulation of hormone secretion  negative regulation of hormone secretion  inositol phosphate-mediated signaling  positive regulation of smooth muscle cell proliferation  cartilage development  elevation 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 chemokine-mediated signaling pathway  cellular response to interleukin-1  cellular response to tumor necrosis factor  positive regulation of neutrophil chemotaxis  
Pathways : BIOCARTANFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]    Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy [Genes]    Hypoxia-Inducible Factor in the Cardiovascular System [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
PubGeneEDN1
iHOPEDN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:46:41 CEST 2013
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