ENSG00000078401


Homo sapiens

Features
Gene ID: ENSG00000078401
  
Biological name :EDN1
  
Synonyms : EDN1 / endothelin 1 / P05305
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p24.1
Gene start: 12290363
Gene end: 12297194
  
Corresponding Affymetrix probe sets: 1564630_at (Human Genome U133 Plus 2.0 Array)   218995_s_at (Human Genome U133 Plus 2.0 Array)   222802_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368683
NCBI entrez gene - 1906     See in Manteia.
OMIM - 131240
RefSeq - XM_017010331
RefSeq - NM_001168319
RefSeq - NM_001955
RefSeq - XM_011514330
RefSeq - XM_011514331
RefSeq - XM_011514332
RefSeq Peptide - NP_001161791
RefSeq Peptide - NP_001946
swissprot - P05305
swissprot - Q6FH53
Ensembl - ENSG00000078401
  
Related genetic diseases (OMIM): 131240 - {High density lipoprotein cholesterol level QTL 7}
  612798 - Question mark ears, isolated, 612798
  615706 - Auriculocondylar syndrome 3, 615706
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
 edn1ENSDARG00000036912Danio rerio
 EDN1ENSGALG00000012735Gallus gallus
 Edn1ENSMUSG00000021367Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EDN2 / P20800 / endothelin 2ENSG0000012712928
EDN3 / P14138 / endothelin 3ENSG0000012420528


Protein motifs (from Interpro)
Interpro ID Name
 IPR001928  Endothelin-like toxin
 IPR019764  Endothelin-like toxin, conserved site
 IPR020475  Endothelin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001501 skeletal system development IEA
 biological_processGO:0001516 prostaglandin biosynthetic process IDA
 biological_processGO:0001569 branching involved in blood vessel morphogenesis IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001821 histamine secretion IEA
 biological_processGO:0003100 regulation of systemic arterial blood pressure by endothelin IDA
 biological_processGO:0006885 regulation of pH IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IDA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007267 cell-cell signaling IDA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0007585 respiratory gaseous exchange IEA
 biological_processGO:0007589 body fluid secretion IEA
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009953 dorsal/ventral pattern formation IEA
 biological_processGO:0010193 response to ozone IEA
 biological_processGO:0010259 multicellular organism aging IEA
 biological_processGO:0010460 positive regulation of heart rate IDA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010595 positive regulation of endothelial cell migration TAS
 biological_processGO:0010613 positive regulation of cardiac muscle hypertrophy IDA
 biological_processGO:0010870 positive regulation of receptor biosynthetic process IDA
 biological_processGO:0014032 neural crest cell development IEA
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling IDA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0014824 artery smooth muscle contraction TAS
 biological_processGO:0014826 vein smooth muscle contraction IDA
 biological_processGO:0019229 regulation of vasoconstriction IEA
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0019722 calcium-mediated signaling IDA
 biological_processGO:0030072 peptide hormone secretion IDA
 biological_processGO:0030185 nitric oxide transport IDA
 biological_processGO:0030195 negative regulation of blood coagulation TAS
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:0031583 phospholipase D-activating G-protein coupled receptor signaling pathway IEA
 biological_processGO:0032269 negative regulation of cellular protein metabolic process IDA
 biological_processGO:0032308 positive regulation of prostaglandin secretion IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0034392 negative regulation of smooth muscle cell apoptotic process IEA
 biological_processGO:0034696 response to prostaglandin F IEA
 biological_processGO:0035094 response to nicotine IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0035810 positive regulation of urine volume IEA
 biological_processGO:0035815 positive regulation of renal sodium excretion IEA
 biological_processGO:0035994 response to muscle stretch IEA
 biological_processGO:0042045 epithelial fluid transport IEA
 biological_processGO:0042310 vasoconstriction IDA
 biological_processGO:0042313 protein kinase C deactivation IDA
 biological_processGO:0042474 middle ear morphogenesis IEA
 biological_processGO:0042482 positive regulation of odontogenesis IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042554 superoxide anion generation IEA
 biological_processGO:0043179 rhythmic excitation IEA
 biological_processGO:0043200 response to amino acid IEA
 biological_processGO:0043406 positive regulation of MAP kinase activity IDA
 biological_processGO:0043507 positive regulation of JUN kinase activity IDA
 biological_processGO:0044321 response to leptin IEA
 biological_processGO:0045321 leukocyte activation TAS
 biological_processGO:0045429 positive regulation of nitric oxide biosynthetic process TAS
 biological_processGO:0045793 positive regulation of cell size IDA
 biological_processGO:0045840 positive regulation of mitotic nuclear division IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0045987 positive regulation of smooth muscle contraction IEA
 biological_processGO:0046887 positive regulation of hormone secretion IDA
 biological_processGO:0046888 negative regulation of hormone secretion IEA
 biological_processGO:0048016 inositol phosphate-mediated signaling IDA
 biological_processGO:0048514 blood vessel morphogenesis IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IDA
 biological_processGO:0050880 regulation of blood vessel size IEA
 biological_processGO:0051091 positive regulation of DNA-binding transcription factor activity IDA
 biological_processGO:0051216 cartilage development IEA
 biological_processGO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway IEA
 biological_processGO:0051771 negative regulation of nitric-oxide synthase biosynthetic process IDA
 biological_processGO:0051899 membrane depolarization IEA
 biological_processGO:0051930 regulation of sensory perception of pain IEA
 biological_processGO:0060137 maternal process involved in parturition IEA
 biological_processGO:0060298 positive regulation of sarcomere organization IMP
 biological_processGO:0060585 positive regulation of prostaglandin-endoperoxide synthase activity IMP
 biological_processGO:0061051 positive regulation of cell growth involved in cardiac muscle cell development IGI
 biological_processGO:0070101 positive regulation of chemokine-mediated signaling pathway IC
 biological_processGO:0071277 cellular response to calcium ion IEA
 biological_processGO:0071346 cellular response to interferon-gamma IEA
 biological_processGO:0071347 cellular response to interleukin-1 IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071375 cellular response to peptide hormone stimulus IEA
 biological_processGO:0071385 cellular response to glucocorticoid stimulus IEA
 biological_processGO:0071389 cellular response to mineralocorticoid stimulus IEA
 biological_processGO:0071398 cellular response to fatty acid IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071548 response to dexamethasone IEA
 biological_processGO:0071559 response to transforming growth factor beta IEA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus IEA
 biological_processGO:0090023 positive regulation of neutrophil chemotaxis IEA
 biological_processGO:1902074 response to salt IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0030133 transport vesicle TAS
 cellular_componentGO:0033093 Weibel-Palade body IEA
 cellular_componentGO:0045178 basal part of cell IEA
 cellular_componentGO:0048237 rough endoplasmic reticulum lumen IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005125 cytokine activity IDA
 molecular_functionGO:0005179 hormone activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031707 endothelin A receptor binding IDA
 molecular_functionGO:0031708 endothelin B receptor binding IPI


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors
G alpha (q) signalling events


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]
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 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000162 Glossoptosis 
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 HP:0000193 Bifid uvula "A split or cleft uvula." [HPO:curators]
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 HP:0000278 Retrognathia 
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 HP:0000293 Full cheeks 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000402 Stenotic external auditory canal "An abnormal narrowing of the external auditory canal." [HPO:curators]
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 HP:0008513 Bilateral conductive deafness 
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 HP:0008751 Laryngeal cleft 
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 HP:0030022 Question mark ear "Cleft between the helix and the lobe." [eom:cffbc3de49dbb172, pmid:19152421]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000117298 ECE1 / P42892 / endothelin converting enzyme 1  / reaction
 ENSG00000136160 EDNRB / P24530 / endothelin receptor type B  / complex / reaction
 ENSG00000151617 EDNRA / P25101 / endothelin receptor type A  / reaction / complex






 

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