Aliases for EDN1 Gene
Aliases for EDN1 Gene
External Ids for EDN1 Gene
- HGNC: 3176
- Entrez Gene: 1906
- Ensembl: ENSG00000078401
- OMIM: 131240
- UniProtKB: P05305
Previous GeneCards Identifiers for EDN1 Gene
- GC06P012348
- GC06P012398
Summaries for EDN1 Gene
-
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
GeneCards Summary for EDN1 Gene
EDN1 (Endothelin 1) is a Protein Coding gene. Diseases associated with EDN1 include Question Mark Ears, Isolated and Auriculocondylar Syndrome 3. Among its related pathways are IL-1 Family Signaling Pathways and EGFR Transactivation by Gastrin. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is EDN3.
UniProtKB/Swiss-Prot for EDN1 Gene
-
Endothelins are endothelium-derived vasoconstrictor peptides.
-
The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known to exist - ET-1, ET-2 and ET-3. Due to their physiological role as vasoactive peptides, endothelins have been linked to certain cardiac, vascular and renal diseases; endothelin antagonists may therefore play an important role in the treatment of these conditions. Two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors.
Additional gene information for EDN1 Gene
- Monarch Initiative
- Search for EDN1 at DataMed
- Search for EDN1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDN1 Gene
Genomics for EDN1 Gene
GeneHancer (GH) Regulatory Elements for EDN1 Gene
Promoters and enhancers for EDN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around EDN1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EDN1 gene promoter:
-
- NF-kappaB
- p53
- NF-kappaB1
- Nkx2-5
- GATA-6
- FOXI1
Regulatory Element Products
Genomic Locations for EDN1 Gene
Genomic Locations for EDN1 Gene
- chr6:12,261,214-12,297,194
- (GRCh38/hg38)
- Size:
- 35,981 bases
- Orientation:
- Plus strand
- chr6:12,290,529-12,297,427
- (GRCh37/hg19)
- Size:
- 6,899 bases
- Orientation:
- Plus strand
Genomic View for EDN1 Gene
Genes around EDN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p24.1 by Entrez Gene
- 6p24.1 by HGNC
- 6p24.1 by Ensembl
EDN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EDN1 Gene
Proteins for EDN1 Gene
-
Protein details for EDN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P05305-EDN1_HUMAN
- Recommended name:
- Endothelin-1
- Protein Accession:
- P05305
- Q96DA1
Protein attributes for EDN1 Gene
- Size:
- 212 amino acids
- Molecular mass:
- 24425 Da
- Quaternary structure:
- No Data Available
Protein Expression for EDN1 Gene
Post-translational modifications for EDN1 Gene
Other Protein References for EDN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for EDN1 (Endothelin-1)
-
Custom Antibody ServicesOriGene Antibodies for EDN1
- Novus Biologicals Antibodies for EDN1
-
Abcam antibodies for EDN1
- Invitrogen Antibodies for EDN1 (AFLGC-EDN1)
- antibodies-online: Search results for 267 available EDN1 Antibodies ranked by validation data
- Compare Top EDN1 Antibodies
-
Recommended
- 109 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 18 IHC Antibodies (anti-human)
- 16 RIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 ICC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 109 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 18 IHC Antibodies (anti-human)
- 16 RIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 ICC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 109 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 18 IHC Antibodies (anti-human)
- 16 RIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 ICC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- GeneTex EDN1 Antibody for EDN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for EDN1
Protein Products
- R&D Systems Peptides for EDN1 (Endothelin-1)
-
OriGene Purified Proteins for EDN1
- Search Origene for MassSpec and Protein Over-expression Lysates for EDN1
- Origene Custom Protein Services for EDN1
- Search GeneTex for Proteins for EDN1
-
Abcam proteins for EDN1
Assay Products
- R&D Systems ELISAs, Luminex Assays, Proteome Profiler Antibody Arrays, and other biochemical assays for EDN1 (Endothelin-1)
- antibodies-online: Search results for 118 available EDN1 Elisa Kits ranked by validation data
- Compare Top EDN1 Elisa Kits
-
Recommended
- 1 Camel ELISA Kit
- 1 Chicken ELISA Kit
- 7 Cow (Bovine) ELISA Kits
- 11 Dog (Canine) ELISA Kits
- 4 Goat ELISA Kits
- 9 Guinea Pig ELISA Kits
- 1 Hamster ELISA Kit
- 2 Horse (Equine) ELISA Kits
- 26 Human ELISA Kits
- 2 Mammalian ELISA Kits
- 3 Monkey ELISA Kits
- 19 Mouse (Murine) ELISA Kits
- 16 Pig (Porcine) ELISA Kits
- 12 Rabbit ELISA Kits
- 19 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 2 Wild boar (Sus scrofa) ELISA Kits
- 1 Camel ELISA Kit
- 1 Chicken ELISA Kit
- 7 Cow (Bovine) ELISA Kits
- 11 Dog (Canine) ELISA Kits
- 4 Goat ELISA Kits
- 9 Guinea Pig ELISA Kits
- 1 Hamster ELISA Kit
- 2 Horse (Equine) ELISA Kits
- 26 Human ELISA Kits
- 2 Mammalian ELISA Kits
- 3 Monkey ELISA Kits
- 19 Mouse (Murine) ELISA Kits
- 16 Pig (Porcine) ELISA Kits
- 12 Rabbit ELISA Kits
- 19 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 2 Wild boar (Sus scrofa) ELISA Kits
- 1 Camel ELISA Kit
- 1 Chicken ELISA Kit
- 7 Cow (Bovine) ELISA Kits
- 11 Dog (Canine) ELISA Kits
- 4 Goat ELISA Kits
- 9 Guinea Pig ELISA Kits
- 1 Hamster ELISA Kit
- 2 Horse (Equine) ELISA Kits
- 26 Human ELISA Kits
- 2 Mammalian ELISA Kits
- 3 Monkey ELISA Kits
- 19 Mouse (Murine) ELISA Kits
- 16 Pig (Porcine) ELISA Kits
- 12 Rabbit ELISA Kits
- 19 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 2 Wild boar (Sus scrofa) ELISA Kits
No data available for DME Specific Peptides for EDN1 Gene
Domains & Families for EDN1 Gene
Gene Families for EDN1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Candidate cardiovascular disease genes
- Disease related genes
- Plasma proteins
- Predicted secreted proteins
Protein Domains for EDN1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EDN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P05305- Family:
-
- Belongs to the endothelin/sarafotoxin family.
Function for EDN1 Gene
Molecular function for EDN1 Gene
- UniProtKB/Swiss-Prot Function:
- Endothelins are endothelium-derived vasoconstrictor peptides.
- GENATLAS Biochemistry:
- endothelin 1 (vaso-constrictor/pressor peptide),phospholipase C activator,interacting with I16 for induced expression of fetal genes in cardiac myocytes
LifeMap Function Summary for EDN1 Gene
During embryonic development, EDN1 as signaling molecule is secreted from the following cells
- Head Mesenchyme
It affects the following cells:
- Head Mesenchyme
- Heart
Phenotypes From GWAS Catalog for EDN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IEA | -- |
| GO:0005125 | cytokine activity | IDA | 19767294 |
| GO:0005179 | hormone activity | IDA | 2649896 |
| GO:0005515 | protein binding | IPI | 23597562 |
| GO:0031707 | endothelin A receptor binding | IDA | 10770212 |
Phenotypes for EDN1 Gene
- MGI mutant phenotypes for EDN1:
-
inferred from 3 alleles
- cardiovascular system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- muscle phenotype
- craniofacial phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for EDN1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased homologous recombination repair frequency
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EDN1
-
CRISPR Products
-
OriGene CRISPR knockouts for EDN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
- genomics-online: gRNA clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- Applied Biological Materials CRISPR for EDN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EDN1
- GenScript: Design CRISPR guide RNA sequences for EDN1
miRNA for EDN1 Gene
- miRTarBase miRNAs that target EDN1
-
- hsa-mir-155-5p (MIRT004455)
- hsa-mir-199a-5p (MIRT005432)
- hsa-mir-1-3p (MIRT006855)
- hsa-mir-124-3p (MIRT022267)
- hsa-let-7a-5p (MIRT244065)
- hsa-let-7b-5p (MIRT244066)
- hsa-let-7c-5p (MIRT244067)
- hsa-let-7d-5p (MIRT244068)
- hsa-let-7e-5p (MIRT244069)
- hsa-let-7f-5p (MIRT244070)
- hsa-mir-98-5p (MIRT244073)
- hsa-let-7g-5p (MIRT244074)
- hsa-let-7i-5p (MIRT244075)
- hsa-mir-130a-3p (MIRT244076)
- hsa-mir-301a-3p (MIRT244077)
- hsa-mir-130b-3p (MIRT244078)
- hsa-mir-454-3p (MIRT244079)
- hsa-mir-759 (MIRT244080)
- hsa-mir-301b-3p (MIRT244081)
- hsa-mir-1294 (MIRT244082)
- hsa-mir-4295 (MIRT244083)
- hsa-mir-3666 (MIRT244085)
- hsa-mir-3927-3p (MIRT244086)
- hsa-mir-4458 (MIRT244087)
- hsa-mir-4500 (MIRT244088)
- hsa-mir-4710 (MIRT244089)
- hsa-mir-6800-5p (MIRT244090)
- hsa-mir-6831-5p (MIRT244091)
- hsa-mir-4727-5p (MIRT378367)
- hsa-mir-6738-3p (MIRT378368)
- hsa-mir-670-3p (MIRT477735)
- hsa-mir-5001-3p (MIRT477736)
- hsa-mir-433-3p (MIRT477737)
- hsa-mir-7154-5p (MIRT477738)
- hsa-mir-202-3p (MIRT477739)
- hsa-mir-6817-5p (MIRT477740)
- hsa-mir-4769-3p (MIRT477741)
- hsa-mir-8060 (MIRT477742)
- hsa-mir-1279 (MIRT477743)
- hsa-mir-664a-3p (MIRT477744)
- hsa-mir-6074 (MIRT477745)
- hsa-mir-3529-5p (MIRT477746)
- hsa-mir-379-5p (MIRT477747)
- hsa-mir-3680-3p (MIRT615477)
- hsa-mir-557 (MIRT615478)
- hsa-mir-507 (MIRT615479)
- hsa-mir-450b-5p (MIRT615480)
- hsa-mir-33b-5p (MIRT615481)
- hsa-mir-33a-5p (MIRT615482)
- hsa-mir-1298-5p (MIRT615483)
- hsa-mir-524-5p (MIRT615484)
- hsa-mir-520d-5p (MIRT615485)
- hsa-mir-19b-2-5p (MIRT615486)
- hsa-mir-19b-1-5p (MIRT615487)
- hsa-mir-19a-5p (MIRT615488)
- hsa-mir-4328 (MIRT615489)
- hsa-mir-125a-5p (MIRT732169)
- hsa-mir-648 (MIRT732477)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EDN1
- Browse OriGene Inhibitory RNA Products For EDN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDN1
- genomics-online: shRNA clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EDN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDN1
- Applied Biological Materials Clones for EDN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EDN1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EDN1 Gene
Localization for EDN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EDN1 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytosol | 3 |
| golgi apparatus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| lysosome | 1 |
- Golgi apparatus (2)
- Nucleoli (1)
- Nucleus (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA,IDA | 10770212 |
| GO:0005737 | cytoplasm | IDA | 12379507 |
| GO:0030133 | transport vesicle | TAS | -- |
| GO:0033093 | Weibel-Palade body | IEA | -- |
Pathways & Interactions for EDN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Signaling by GPCR | ||
| 3 | RET signaling | ||
| 4 | Development Endothelin-1/EDNRA signaling | ||
| 5 | AGE-RAGE signaling pathway in diabetic complications | ||
Pathways by source for EDN1 Gene
10 BioSystems pathways for EDN1 Gene
8 Reactome pathways for EDN1 Gene
5 GeneGo (Thomson Reuters) pathways for EDN1 Gene
3 Qiagen pathways for EDN1 Gene
Interacting Proteins for EDN1 Gene
Selected Interacting proteins:
ENSP00000368683
P05305-EDN1_HUMAN
for EDN1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for EDN1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 19767294 |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001516 | prostaglandin biosynthetic process | IDA | 9492062 |
| GO:0001569 | branching involved in blood vessel morphogenesis | IEA | -- |
| GO:0001666 | response to hypoxia | IEA | -- |
Drugs & Compounds for EDN1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Nitric Oxide | Approved | Pharma | 643 | |||
| Atenolol | Approved | Pharma | Antagonist | 108 | ||
| Bevacizumab | Approved, Investigational | Pharma | VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 2087 | ||
| Irbesartan | Approved, Investigational | Pharma | Antagonist | Angiotensin II inhibitor | 102 | |
| TBC-3711 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Endothelin 1 (human, porcine) |
|
117399-94-7 |
|
|
||
| Endothelin 2 (human) |
|
123562-20-9 |
|
|
(5) Tocris Compounds for EDN1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Endothelin 1 (human, porcine) | Potent vasoconstrictor peptide | 117399-94-7 |
| Endothelin 2 (human) | ETA/ETB agonist | 123562-20-9 |
| Endothelin 3 (human, rat) | Potent vasoconstrictor | 117399-93-6 |
| Sarafotoxin S6a | Endothelin receptor agonist | 126738-34-9 |
| Sarafotoxin S6b | Endothelin receptor agonist; non-selective | 116303-65-2 |
Drug Products
Transcripts for EDN1 Gene
mRNA/cDNA for EDN1 Gene
- (6) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000379375 2033 bps (uc003nae.5)
Unigene Clusters for EDN1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EDN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
- genomics-online: gRNA clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- Applied Biological Materials CRISPR for EDN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EDN1
- GenScript: Design CRISPR guide RNA sequences for EDN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EDN1
- Browse OriGene Inhibitory RNA Products For EDN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDN1
- genomics-online: shRNA clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EDN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDN1
- Applied Biological Materials Clones for EDN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | - | ||||||||||||||
| SP3: |
Expression for EDN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Heart (Cardiovascular System)
- Cushion Mesenchymal Cells Endocardium
- Cardiac Fibroblasts Myocardium
- Endocardial Cells Endocardium
- Inner Cell Mass (Early Embryonic Tissues)
-
Epithelial Cells
- Basal Cells Respiratory Bronchioles
- Duct Cells Pancreatic Ducts
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Head Mesenchyme (Muscoskeletal System)
- Ectoderm Cells Branchial Arch 2
- Ectoderm Cells Branchial Arch 1
-
Ectoderm (Gastrulation Derivatives)
- Ectoderm Cells Branchial Arch 2
- Ectoderm Cells Branchial Arch 1
- Gut Tube (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Lung (Respiratory System)
- Basal Cells Respiratory Bronchioles
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
- Brain (Nervous System)
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Blood (Hematopoietic System)
- Umbilical Cord (Extraembryonic Tissues)
- Eye (Sensory Organs)
- Mesenchymal Stem Cells
- Endothelium (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for EDN1 Gene
This gene is overexpressed in Adipose - Subcutaneous (x4.1).
This gene is overexpressed in Platelet (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EDN1 Gene
NURSA nuclear receptor signaling pathways regulating expression of EDN1 Gene:
EDN1SOURCE GeneReport for Unigene cluster for EDN1 Gene:
Hs.511899mRNA Expression by UniProt/SwissProt for EDN1 Gene:
P05305-EDN1_HUMAN
Tissue specificity:
Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.
Evidence on tissue expression from TISSUES for EDN1 Gene
- Pancreas(4.3)
- Heart(3.7)
- Nervous system(3.7)
- Muscle(3.6)
- Blood(3.4)
- Lung(3.4)
- Kidney(3.2)
- Liver(2.7)
- Skin(2.6)
- Adrenal gland(2.4)
- Intestine(2.3)
- Stomach(2.2)
- Eye(2.1)
- Urine(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EDN1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- ear
- epiglottis
- face
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- outer ear
- pharynx
- skull
- tongue
- tooth
- vocal cord
Thorax:
- lung
- trachea
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for EDN1
-
OriGene qPCR primer pairs and template standards for EDN1
- genomics-online: primer clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
Gene Expression Assay Products
Orthologs for EDN1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EDN1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EDN1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EDN1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Edn1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Edn1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EDN1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EDN1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EDN1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EDN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | edn1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | edn1 34 33 |
|
OneToOne |
- Species where no ortholog for EDN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for EDN1 Gene
- ENSEMBL:
- Gene Tree for EDN1 (if available)
- TreeFam:
- Gene Tree for EDN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EDN1: view image
Paralogs for EDN1 Gene
Variants for EDN1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs5370 | association, High density lipoprotein cholesterol level quantitative trait locus 7 | 12,296,022(+) | G/T | coding_sequence_variant, missense_variant | |
| rs587777231 | pathogenic, Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 (ARCND3) [MIM:615706] | 12,293,978(+) | A/G | coding_sequence_variant, missense_variant | |
| rs587777232 | pathogenic, Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 (ARCND3) [MIM:615706] | 12,292,506(+) | C/A | coding_sequence_variant, missense_variant | |
| rs587777233 | pathogenic, Question mark ears, isolated, Question mark ears, isolated (QME) [MIM:612798] | 12,292,467(+) | T/A | coding_sequence_variant, missense_variant | |
| rs587777234 | pathogenic, Question mark ears, isolated | 12,293,956(+) | T/G | coding_sequence_variant, stop_gained |
Residual Variation Intolerance Score:
63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.42;
71.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EDN1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDN1 Gene
Disorders for EDN1 Gene
(96) MalaCards diseases for EDN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| question mark ears, isolated |
|
|
| auriculocondylar syndrome 3 |
|
|
| auriculo-condylar syndrome |
|
|
| raynaud phenomenon |
|
|
| renal hypertension |
|
Search EDN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EDN1_HUMAN- Question mark ears, isolated (QME) [MIM:612798]: An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. {ECO:0000269 PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269 PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for EDN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for EDN1 Gene
Publications for EDN1 Gene
- Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. (PMID: 18288492) Wiltshire S … Beilby JP (Human genetics 2008) 3 4 44 58
- Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. (PMID: 17357073) Pare G … Gaudet D (American journal of human genetics 2007) 3 4 44 58
- Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene. (PMID: 15198485) Tanaka C … Miyata T (Hypertension research : official journal of the Japanese Society of Hypertension 2004) 3 22 44 58
- Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (PMID: 24268655) Gordon CT … Amiel J (American journal of human genetics 2013) 3 4 58
- Positive association between two polymorphic sites (+134 insA/delA and G198T) of the endothelin-1 gene and chronic obstructive pulmonary disease. A case-control study. (PMID: 19640695) Sampsonas F … Siafakas N (Respiratory medicine 2010) 3 44 58
Products for EDN1 Gene
- R&D Systems Antibodies for EDN1 (Endothelin-1)
- R&D Systems Peptides for EDN1 (Endothelin-1)
- R&D Systems ELISAs, Luminex Assays, Proteome Profiler Antibody Arrays, and other biochemical assays for EDN1 (Endothelin-1)
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- GenScript: Next-day shipping of latest version cDNA ORF clones for EDN1 in any vector
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- Sino Biological Human cDNA Clone for EDN1
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- antibodies-online: Search results for 267 available EDN1 Antibodies ranked by validation data
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- Recommended
- 109 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 18 IHC Antibodies (anti-human)
- 16 RIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 ICC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 109 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 18 IHC Antibodies (anti-human)
- 16 RIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 ICC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 109 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 24 IHC (fro) Antibodies (anti-human)
- 18 IHC Antibodies (anti-human)
- 16 RIA Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 ICC Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 30 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 38 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- antibodies-online: Search results for 118 available EDN1 Elisa Kits ranked by validation data
- Compare Top EDN1 Elisa Kits
- Recommended
- 1 Camel ELISA Kit
- 1 Chicken ELISA Kit
- 7 Cow (Bovine) ELISA Kits
- 11 Dog (Canine) ELISA Kits
- 4 Goat ELISA Kits
- 9 Guinea Pig ELISA Kits
- 1 Hamster ELISA Kit
- 2 Horse (Equine) ELISA Kits
- 26 Human ELISA Kits
- 2 Mammalian ELISA Kits
- 3 Monkey ELISA Kits
- 19 Mouse (Murine) ELISA Kits
- 16 Pig (Porcine) ELISA Kits
- 12 Rabbit ELISA Kits
- 19 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 2 Wild boar (Sus scrofa) ELISA Kits
- 1 Camel ELISA Kit
- 1 Chicken ELISA Kit
- 7 Cow (Bovine) ELISA Kits
- 11 Dog (Canine) ELISA Kits
- 4 Goat ELISA Kits
- 9 Guinea Pig ELISA Kits
- 1 Hamster ELISA Kit
- 2 Horse (Equine) ELISA Kits
- 26 Human ELISA Kits
- 2 Mammalian ELISA Kits
- 3 Monkey ELISA Kits
- 19 Mouse (Murine) ELISA Kits
- 16 Pig (Porcine) ELISA Kits
- 12 Rabbit ELISA Kits
- 19 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 2 Wild boar (Sus scrofa) ELISA Kits
- 1 Camel ELISA Kit
- 1 Chicken ELISA Kit
- 7 Cow (Bovine) ELISA Kits
- 11 Dog (Canine) ELISA Kits
- 4 Goat ELISA Kits
- 9 Guinea Pig ELISA Kits
- 1 Hamster ELISA Kit
- 2 Horse (Equine) ELISA Kits
- 26 Human ELISA Kits
- 2 Mammalian ELISA Kits
- 3 Monkey ELISA Kits
- 19 Mouse (Murine) ELISA Kits
- 16 Pig (Porcine) ELISA Kits
- 12 Rabbit ELISA Kits
- 19 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 2 Wild boar (Sus scrofa) ELISA Kits
- antibodies-online: Search results for 19 available EDN1 Proteins ranked by validation data
- Compare Top EDN1 Proteins
- GeneTex EDN1 Antibody for EDN1
- Search GeneTex for Proteins for EDN1
- Santa Cruz Biotechnology (SCBT) Antibodies for EDN1
- Search Santa Cruz Biotechnology (SCBT) for EDN1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EDN1
- Horizon Cell Lines for EDN1
- genomics-online: cdna clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- orf clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- genomics-online: gRNA clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- genomics-online: primer clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- genomics-online: shRNA clones - Search results for 107 available EDN1 gene related products
- Overview of 107 available EDN1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDN1
- GeneCopoeia miRNA 3'UTR Target clone products for EDN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EDN1
Sources for EDN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82)