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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 resul... See more...
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 Oxytocin signaling pathway and Dilated cardiomyopathy (DCM). Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is EDN2.
UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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:
-
- FOXI1
- GATA-6
- NF-kappaB
- NF-kappaB1
- Nkx2-5
- p53
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 HGNC
- 6p24.1 by Entrez Gene
- 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
- G Biosciences Immunotag™ EDN1 Antibody
- Atlas Antibodies Anti-EDN1 Antibody
-
Creative Diagnostics
- Anti-EDN1 (aa 54-73) polyclonal antibody [Biotin]
- Anti-EDN1 monoclonal antibody, clone JD5
- Anti-EDN1 monoclonal antibody, clone 2D20
- Anti-Big Endothelin polyclonal antibody
- Anti-EDN1 monoclonal antibody, clone US.FU.48.6
- Anti-EDN1 monoclonal antibody, clone 4C9D0
- Anti-EDN1 monoclonal antibody, clone US.FU.59.6
- Anti-EDN1 monoclonal antibody, clone 4H21
- Anti-EDN1 (aa 1-162) polyclonal antibody
- Anti-EDN1 monoclonal antibody, clone IC4
- Anti-EDN1 (aa 183-211) polyclonal antibody
- Anti-EDN1 (aa 118-146) polyclonal antibody
- Anti-EDN1 (full length) polyclonal antibody
- Anti-EDN1 (aa 100-200) polyclonal antibody
- Anti-EDN1 monoclonal antibody, clone 3G10
-
Creative Biolabs
- Recombinant Mouse Anti-Human EDN1 Antibody Fab Fragment
- Mouse Anti-EDN1 Recombinant Antibody (CBFYE-0442)
- Recombinant Mouse anti-Human EDN1 Monoclonal antibody (2D20)
- Mouse Anti-EDN1 Recombinant Antibody (ENDO20-2101.70)
- Recombinant Mouse Anti-EDN1 Antibody (TR.ET.48.5)
- Mouse Anti-EDN1 (AA 53-211) Recombinant Antibody (CBFYE-0440)
- Rat Anti-EDN1 Recombinant Antibody (CBFYE-0030)
- Mouse Anti-EDN1 (AA 113-212) Recombinant Antibody (CBFYE-0441)
- Mouse Anti-EDN1 (C-terminus) Recombinant Antibody (CBFYE-0443)
- Mouse Anti-EDN1 Recombinant Antibody (TR.ET.48.5)
- Mouse Anti-EDN1 (AA 53-90) Recombinant Antibody (CBFYE-0029)
- Mouse Anti-EDN1 Recombinant Antibody (CBFYE-0086)
-
Custom Antibody ServicesOriGene Antibodies for EDN1
- Novus Biologicals Antibodies for EDN1
-
Abcam antibodies for EDN1
- Invitrogen Antibodies for EDN1 (AFLGC-EDN1)
- antibodies-online: Show 279 available Prepro-Endothelin-1 Antibodies ranked by validation data
- Compare Top Prepro-Endothelin-1 Antibodies
-
Recommended
- 115 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 20 IHC Antibodies (anti-human)
- 14 RIA Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 4 IHC (fro) Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 32 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 41 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for EDN1
Protein Products
-
OriGene Purified Proteins for EDN1
- Search Origene for MassSpec and Protein Over-expression Lysates for EDN1
- Origene Custom Protein Services for EDN1
-
Abcam proteins for EDN1
Assay Products
- G Biosciences Immunotag™ Human EDN1 (Endothelin-1) ELISA
- RayBiotech Human Endothelin-1 ELISA
- Aviva Systems Biology Endothelin ELISA Kit (Human) (OKBB00471) and EDN1 ELISA Kit (Human) : 96 Wells (OKEH00473)
- antibodies-online: Show 135 available Prepro-Endothelin-1 Elisa Kits ranked by validation data
- Compare Top Prepro-Endothelin-1 Elisa Kits
-
Quality Products:
- ABIN415024
- ABIN837829
- ABIN1114757
- ABIN2702980
- ABIN1672856
- ABIN492009
- ABIN1569524
- ABIN2815086
- ABIN5520507
- ABIN2708202
- ABIN1114751
- ABIN1672858
- ABIN415566
- ABIN367751
- ABIN1569525
- ABIN5520508
- ABIN455025
- ABIN2708504
- ABIN2487172
- ABIN2684084
- ABIN1114758
- ABIN416287
- ABIN366462
- ABIN1672857
- ABIN1569526
- ABIN5520511
- ABIN2708639
- ABIN2684085
- ABIN5670452
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:
-
- Preproendothelin-1 (EDN1_HUMAN)
- cDNA FLJ75736, highly similar to Homo sapiens endothelin 1 (EDN1), mRNA (Q6FH53_HUMAN)
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)
- Increased 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
CRISPR Products
-
OriGene CRISPR knockouts for EDN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
- genomics-online: gRNA clones - Search for available Prepro-Endothelin-1 gRNA products
- Overview of 123 available Prepro-Endothelin-1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for EDN1 - Select products 50% OFF >
- * EDN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * EDN1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 sirna, shrna, 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 for available Prepro-Endothelin-1 shRNA products
- Overview of 123 available Prepro-Endothelin-1 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 (abm): Clones for EDN1 - Select products 50% OFF >
- * EDN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * EDN1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
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 |
| nucleus | 3 |
| endoplasmic reticulum | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| peroxisome | 1 |
| endosome | 1 |
| 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 | IDA,IEA | 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
- Endothelin-1 Signaling Pathway
- HIF1Alpha Pathway
- NFAT and Cardiac Hypertrophy
Interacting Proteins for EDN1 Gene
Selected Interacting proteins:
P05305-EDN1_HUMAN
ENSP00000368683
for EDN1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for EDN1
SIGNOR curated interactions for EDN1 Gene
| 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 | 737 | |||
| Atenolol | Approved | Pharma | Antagonist | 111 | ||
| Bevacizumab | Approved, Investigational | Pharma | VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 2286 | ||
| Irbesartan | Approved, Investigational | Pharma | Antagonist | Angiotensin II inhibitor | 108 | |
| 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 |
Transcripts for EDN1 Gene
mRNA/cDNA for EDN1 Gene
- (2) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379375 2035 bps (ENST00000379375.5)
CRISPR Products
-
OriGene CRISPR knockouts for EDN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
- genomics-online: gRNA clones - Search for available Prepro-Endothelin-1 gRNA products
- Overview of 123 available Prepro-Endothelin-1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for EDN1 - Select products 50% OFF >
- * EDN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * EDN1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for EDN1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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 for available Prepro-Endothelin-1 shRNA products
- Overview of 123 available Prepro-Endothelin-1 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 (abm): Clones for EDN1 - Select products 50% OFF >
- * EDN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * EDN1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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 for available Prepro-Endothelin-1 Primer products
- Overview of 123 available Prepro-Endothelin-1 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 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EDN1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EDN1 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Edn1 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Edn1 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EDN1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | EDN1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | EDN1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EDN1 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | edn1 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | edn1 33 32 |
|
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 |
|---|---|---|---|---|---|
| rs1561693994 | uncertain-significance, Question mark ears, isolated | 12,292,460(+) | G/C | coding_sequence_variant, missense_variant | |
| 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 |
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
(106) MalaCards diseases for EDN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| question mark ears, isolated |
|
|
| auriculocondylar syndrome 3 |
|
|
| auriculo-condylar syndrome |
|
|
| angina pectoris |
|
|
| 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 43 56
- 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 43 56
- 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 23 43 56
- 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 56
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
ExternalLinks
Products for EDN1 Gene
- View all 9 R&D Systems EDN1 (Endothelin-1) Products
- View all R&D Systems EDN1 (Endothelin-1) Primary Antibodies
- View all 5 R&D Systems EDN1 (Endothelin-1) ELISAs
- View all R&D Systems EDN1 (Endothelin-1) Luminex Assays
- View all R&D Systems EDN1 (Endothelin-1) Proteome Profiler Antibody Arrays
- View all R&D Systems EDN1 (Endothelin-1) Peptides
- Learn more about R&D Systems custom EDN1 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for EDN1
- Custom Assay Services
- OriGene Purified Proteins for EDN1
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- Origene sirna, shrna, and RNAi products in human, mouse, rat for EDN1
- Browse OriGene Inhibitory RNA Products For EDN1
- OriGene qPCR primer pairs for EDN1
- OriGene qPCR primer pairs and template standards for EDN1
- OriGene CRISPR knockouts for EDN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EDN1
- Sino Biological Human cDNA Clone for EDN1
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EDN1
- Novus Biologicals proteins and lysates for EDN1
- Browse Antibodies
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- Abcam proteins for EDN1
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- Browse Primary Antibodies
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- Invitrogen Antibodies for EDN1 (AFLGC-EDN1)
- antibodies-online: Show 279 available Prepro-Endothelin-1 Antibodies ranked by validation data
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- Recommended
- 115 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 20 IHC Antibodies (anti-human)
- 14 RIA Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 4 IHC (fro) Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 IRMA Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 32 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 41 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- antibodies-online: Show 135 available Prepro-Endothelin-1 Elisa Kits ranked by validation data
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- antibodies-online: Show 28 available Prepro-Endothelin-1 Proteins ranked by validation data
- Compare Top Prepro-Endothelin-1 Proteins
- 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 for available Prepro-Endothelin-1 CDNA products
- Overview of 123 available Prepro-Endothelin-1 gene related products
- orf clones - Search for available Prepro-Endothelin-1 ORF products
- Overview of 123 available Prepro-Endothelin-1 gene related products
- genomics-online: gRNA clones - Search for available Prepro-Endothelin-1 gRNA products
- Overview of 123 available Prepro-Endothelin-1 gene related products
- genomics-online: primer clones - Search for available Prepro-Endothelin-1 Primer products
- Overview of 123 available Prepro-Endothelin-1 gene related products
- genomics-online: shRNA clones - Search for available Prepro-Endothelin-1 shRNA products
- Overview of 123 available Prepro-Endothelin-1 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
- Search GeneCopoeia for 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) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163)