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EDN1 endothelin 1 [ Homo sapiens (human) ]

Gene ID: 1906, updated on 14-Nov-2024

Summary

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Official Symbol: EDN1provided by HGNC
Official Full Name: endothelin 1provided by HGNC
Primary source: HGNC:HGNC:3176
See related: Ensembl:ENSG00000078401 MIM:131240; AllianceGenome:HGNC:3176
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ET1; QME; PPET1; ARCND3; HDLCQ7
Summary: 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]
Expression: Broad expression in lung (RPKM 13.6), fat (RPKM 10.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

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See EDN1 in Genome Data Viewer

Location:: 6p24.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (12230516..12297194)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (12098871..12165580)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (12230749..12297427)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Endothelin-1 (ET-1) contributes to senescence and phenotypic changes in brain pericytes in diabetes-mimicking conditions.
Title: Endothelin-1 (ET-1) contributes to senescence and phenotypic changes in brain pericytes in diabetes-mimicking conditions.
ET1 acts as a potential plasma biomarker and therapeutic target in deep venous thrombosis rat model.
Title: ET1 acts as a potential plasma biomarker and therapeutic target in deep venous thrombosis rat model.
The endothelin-1-driven tumor-stroma feed-forward loops in high-grade serous ovarian cancer.
Title: The endothelin-1-driven tumor-stroma feed-forward loops in high-grade serous ovarian cancer.
Microarray analysis demonstrates up-regulation of the endothelin-1 gene with compensatory down-regulation of the ETA receptor gene in human portal vein.
Title: Microarray analysis demonstrates up-regulation of the endothelin-1 gene with compensatory down-regulation of the ETA receptor gene in human portal vein.
Diagnostic potential of endothelin-1 in peri-implant diseases: a cross-sectional study.
Title: Diagnostic potential of endothelin-1 in peri-implant diseases: a cross-sectional study.
Relationship between dynamic electrocardiogram and CRP, IL-6, ET-1 expression in myocardial ischemia patients with coronary heart disease.
Title: Relationship between dynamic electrocardiogram and CRP, IL-6, ET-1 expression in myocardial ischemia patients with coronary heart disease.
Association between endothelin-1 and systemic lupus erythematosus: insights from a case-control study.
Title: Association between endothelin-1 and systemic lupus erythematosus: insights from a case-control study.
Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through Transcription Factor Oct-1.
Title: Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through Transcription Factor Oct-1.
Association of blood pressure variability with Endothelin-1 by menopause status among Black women: findings from the Jackson Heart Study.
Title: Association of blood pressure variability with Endothelin-1 by menopause status among Black women: findings from the Jackson Heart Study.
Research progress on the role of ET-1 in diabetic kidney disease.
Title: Research progress on the role of ET-1 in diabetic kidney disease.

Submit: New GeneRIF Correction See all GeneRIFs (790)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Auriculocondylar syndrome 3 MedGen: C3810332 OMIM: 615706 GeneReviews: Not available	Compare labs
Question mark ears, isolated MedGen: C2748545 OMIM: 612798 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 stimulates the secretion of endothelin-1, as well as TNF-alpha, from human cells in a concentration-dependent manner	PubMed
Nef	nef	The activation of extracellular signal-regulated kinase (ERK) by endothelin-1 (ET-1) is inhibited by HIV-1 Nef in human astrocytes; a similar inhibitory action of Nef on ERK activation was observed after direct stimulation of G proteins	PubMed
Tat	tat	HIV-1 Tat-linked intracellular third loop of the endothelin-1 type B receptor markedly enhances the endothelin-1 activation of ERK in the bone morphogenetic protein-2 receptor human pulmonary artery smooth muscle cells	PubMed
	tat	In HIV-1 Tat-expressing and HIV-infected astrocytes, endothelin-1 (ET-1) is significantly elevated through NF-kappaB (NF-kappaB)-responsive sites in the ET-1 promoter	PubMed
matrix	gag	HIV-1 MA-induced capillary-like structure formation is partially mediated by the ET-1/ETB receptor axis in human primary lymph node-derived lymphatic endothelial cells	PubMed
	gag	Exposure of human primary lymph node-derived lymphatic endothelial cells with HIV-1 MA induces release of ET-1	PubMed
	gag	Treatment of human stellate cells with HIV-1 MA upregulates the expression of CXCR2, syndecan-2, collagen-I, alpha-SMA, vimentin, and endothelin-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006R11 (e-PCR)
- UniSTS:39263

WI-7563 (e-PCR)
- UniSTS:73697

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables endothelin A receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables endothelin A receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables endothelin B receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables endothelin B receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables endothelin B receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in artery smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in artery smooth muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in axon extension	IEA Inferred from Electronic Annotation more info
involved_in axonogenesis involved in innervation	IEA Inferred from Electronic Annotation more info
involved_in body fluid secretion	IEA Inferred from Electronic Annotation more info
involved_in branching involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cAMP/PKA signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to follicle-stimulating hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to human chorionic gonadotropin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to luteinizing hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mineralocorticoid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube development	IEA Inferred from Electronic Annotation more info
involved_in endothelin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelin receptor signaling pathway involved in heart process	IEA Inferred from Electronic Annotation more info
involved_in epithelial fluid transport	IEA Inferred from Electronic Annotation more info
involved_in glomerular endothelium development	IEA Inferred from Electronic Annotation more info
involved_in glomerular filtration	IEA Inferred from Electronic Annotation more info
involved_in histamine secretion	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in leukocyte activation	TAS Traceable Author Statement more info	PubMed
involved_in maternal process involved in parturition	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle process involved in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood coagulation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neural crest cell fate commitment	IEA Inferred from Electronic Annotation more info
NOT involved_in neutrophil chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in noradrenergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in peptide hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in pharyngeal arch artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase D-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in podocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cardiac muscle hypertrophy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cation channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell growth involved in cardiac muscle cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell growth involved in cardiac muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell size	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of chemokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endothelial cell migration	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of heart rate	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitotic nuclear division	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of nitric oxide biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of odontogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of prostaglandin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of prostaglandin-endoperoxide synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of urine volume	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in prostaglandin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein kinase C deactivation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of D-glucose transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of pH	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure by endothelin	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of systemic arterial blood pressure by endothelin	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in renal sodium ion absorption	IEA Inferred from Electronic Annotation more info
involved_in respiratory gaseous exchange by respiratory system	IEA Inferred from Electronic Annotation more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to amino acid	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to dexamethasone	IEA Inferred from Electronic Annotation more info
involved_in response to leptin	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to muscle stretch	IEA Inferred from Electronic Annotation more info
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to ozone	IEA Inferred from Electronic Annotation more info
involved_in response to prostaglandin F	IEA Inferred from Electronic Annotation more info
involved_in response to salt	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in rhythmic excitation	IEA Inferred from Electronic Annotation more info
involved_in semaphorin-plexin signaling pathway involved in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in superoxide anion generation	IEA Inferred from Electronic Annotation more info
involved_in sympathetic neuron axon guidance	IEA Inferred from Electronic Annotation more info
involved_in thyroid gland development	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in vasoconstriction	IDA Inferred from Direct Assay more info	PubMed
involved_in vein smooth muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in vein smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Weibel-Palade body	IEA Inferred from Electronic Annotation more info
located_in basal part of cell	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in rough endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: endothelin-1

Names: preproendothelin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016196.2 RefSeqGene

Range

38879..45712

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001168319.2 → NP_001161791.1 endothelin-1 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001161791.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AL548191, AW044634, BQ009676, BX439515, S56805, Z98050

UniProtKB/Swiss-Prot

P05305

Conserved Domains (3) summary

PHA02659
Location:4 → 72

PHA02659; endothelin precursor; Provisional

smart00272
Location:107 → 128

END; Endothelin

pfam00322
Location:48 → 76

Endothelin; Endothelin family
NM_001416563.1 → NP_001403492.1 endothelin-1 isoform 1 preproprotein

Status: REVIEWED

Source sequence(s)

Z98050

UniProtKB/Swiss-Prot

P05305, Q96DA1

UniProtKB/TrEMBL

Q6FH53
NM_001416564.1 → NP_001403493.1 endothelin-1 isoform 1 preproprotein

Status: REVIEWED

Source sequence(s)

Z98050

UniProtKB/Swiss-Prot

P05305, Q96DA1

UniProtKB/TrEMBL

Q6FH53
NM_001416565.1 → NP_001403494.1 endothelin-1 isoform 1 preproprotein

Status: REVIEWED

Source sequence(s)

Z98050

UniProtKB/Swiss-Prot

P05305, Q96DA1

UniProtKB/TrEMBL

Q6FH53
NM_001955.5 → NP_001946.3 endothelin-1 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001946.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL548191, AW044634, BQ009676, S56805, Z98050

Consensus CDS

CCDS4522.1

UniProtKB/Swiss-Prot

P05305, Q96DA1

UniProtKB/TrEMBL

Q6FH53

Related

ENSP00000368683.5, ENST00000379375.6

Conserved Domains (2) summary

smart00272
Location:108 → 129

END; Endothelin

pfam00322
Location:49 → 77

Endothelin; Endothelin family