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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
- NCBI Entrez Gene: 1906
- Ensembl: ENSG00000078401
- OMIM®: 131240
- UniProtKB/Swiss-Prot: P05305
Previous GeneCards Identifiers for EDN1 Gene
- GC06P012348
- GC06P012398
- GC06P012290
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 Prostaglandin Synthesis and Regulation and Physiological and Pathological Hypertrophy of the Heart. 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 (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (PubMed:19086031).
-
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
- HGNC (3176)
- NCBI Entrez Gene (1906)
- Ensembl (ENSG00000078401)
- OMIM® (131240)
- UniProtKB/Swiss-Prot (P05305)
- Open Targets Platform(ENSG00000078401)
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDN1
- 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
Latest Assembly
- chr6:12,256,463-12,297,194
- (GRCh38/hg38)
- Size:
- 40,732 bases
- Orientation:
- Plus strand
Previous Assembly
- chr6:12,290,594-12,297,427
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 6,834 bases
- Orientation:
- Plus strand
- chr6:12,290,596-12,297,427
- (GRCh37/hg19 by Ensembl)
- Size:
- 6,832 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:
Antibodies for research
- LifeSpan BioSciences EDN1 / Endothelin 1 Antibody and EDN1 / Endothelin 1 Monoclonal Antibody
- G Biosciences Immunotag™ EDN1 Antibody
-
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)
-
Boster Bio Antibodies for EDN1
-
Custom Antibody ServicesProSci Antibodies for EDN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for EDN1
Protein products for research
-
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 for research
- G Biosciences Immunotag™ Human EDN1 (Endothelin-1) ELISA
- RayBiotech Human Endothelin-1 ELISA
- 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
- InterPro:
- Blocks:
-
- Endothelin
- 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 (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (PubMed:19086031).
- 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 | IBA,IDA | 10770212 |
Phenotypes for EDN1 Gene
- MGI mutant phenotypes for EDN1:
-
inferred from 3 alleles
- normal phenotype
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cardiovascular system phenotype
- mortality/aging
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for EDN1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Increased homologous recombination repair frequency
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EDN1 - Starting at $85 >
- * EDN1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EDN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
-
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)
- mmu-miR-105 (MIRT595379)
- 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 for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for EDN1 - Starting at $45 >
- * EDN1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EDN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDN1
Cell Lines for research
-
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 | 4 |
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| cytoskeleton | 3 |
| mitochondrion | 3 |
| cytosol | 3 |
| golgi apparatus | 3 |
| peroxisome | 2 |
| endosome | 2 |
| lysosome | 2 |
- Golgi apparatus (2)
- Nucleoli (1)
- Nucleoplasm (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 |
Development Endothelin-1/EDNRA signaling
.41
|
Development Endothelin-1/EDNRA transactivation of EGFR
.41
|
| 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
- Development EDNRB signaling
- Development Endothelin-1/EDNRA signaling
- Development Endothelin-1/EDNRA transactivation of EGFR
- Development_Leptin signaling via JAK/STAT and MAPK cascades
- Immune response IL-1 signaling pathway
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 | 796 | |||
| Atenolol | Approved | Pharma | 116 | |||
| Bevacizumab | Approved, Investigational | Pharma | VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 2478 | ||
| Irbesartan | Approved, Investigational | Pharma | Angiotensin II inhibitor | 113 | ||
| 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 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379375 2035 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EDN1 - Starting at $85 >
- * EDN1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EDN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EDN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EDN1
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for EDN1 - Starting at $45 >
- * EDN1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for EDN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EDN1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||
| SP2: | - | ||||||||||||||
| SP3: |
Relevant External Links for EDN1 Gene
- GeneLoc Exon Structure for
- EDN1
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDN1
SOURCE 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(4.4)
- Nervous system(3.7)
- Heart(3.4)
- Muscle(3.3)
- Blood(3.1)
- Lung(3.1)
- Kidney(3.1)
- Liver(2.8)
- Skin(2.8)
- Intestine(2.5)
- Adrenal gland(2.5)
- Spleen(2.3)
- Stomach(2.3)
- Urine(2.3)
- Eye(2.2)
- Bone(2.2)
- Bone marrow(2.2)
- Lymph node(2.1)
- Thyroid gland(2)
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 for research
-
OriGene qPCR primer pairs for EDN1
-
OriGene qPCR primer pairs and template standards for EDN1
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EDN1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EDN1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Edn1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Edn1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | EDN1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | EDN1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EDN1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EDN1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | edn1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | edn1 30 31 |
|
OneToOne |
- Species where no ortholog for EDN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDN1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10478695 | Likely Benign: not provided | 12,290,701(+) |
C/T NM_001955.5(EDN1):c.64+8C>T |
INTRON | |
| rs1064796796 | Uncertain Significance: not provided | 12,292,464(+) |
G/A NM_001955.5(EDN1):c.188G>A (p.Cys63Tyr) |
MISSENSE | |
| rs145546137 | Benign: not provided | 12,294,351(+) |
A/C NM_001955.5(EDN1):c.480A>C (p.Leu160Phe) |
MISSENSE | |
| rs147381256 | Likely Benign: not provided | 12,293,945(+) |
G/A NM_001955.5(EDN1):c.238G>A (p.Val80Ile) |
MISSENSE | |
| rs148565651 | Benign: not provided | 12,292,417(+) |
C/T NM_001955.5(EDN1):c.141C>T (p.Leu47=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDN1 Gene
Disorders for EDN1 Gene
| 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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for EDN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for EDN1 Gene
Publications for EDN1 Gene
- 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 74
- Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome. (PMID: 20083432) Buck D … Fietze I (Sleep medicine 2010) 3 23 41
- Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study. (PMID: 19661472) MacClellan LR … Kittner SJ (Stroke 2009) 3 23 41
- 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 41
- 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 41
ExternalLinks
Products for EDN1 Gene
- View all 11 R&D Systems EDN1 (Endothelin-1) Products
- View all 2 R&D Systems EDN1 (Endothelin-1) Primary Antibodies
- View all 5 R&D Systems EDN1 (Endothelin-1) ELISAs
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- View all R&D Systems EDN1 (Endothelin-1) Luminex Assays
- View all R&D Systems EDN1 (Endothelin-1) Proteome Profiler Antibody Arrays
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- Learn more about R&D Systems custom EDN1 antibody, protein, and immunoassay development services
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- Sino Biological Human cDNA Clone for EDN1
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- Novus Biologicals proteins and lysates for EDN1
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- VectorBuilder Virus packaging for EDN1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EDN1
- antibodies-online: Show 279 available Prepro-Endothelin-1 Antibodies ranked by validation data
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- 2 FACS Antibodies (anti-human)
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- 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® (Updated: 05-Mar-2021)
- (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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB