CleftGeneDB-Search

Gene: Edn1

Basic information

Tag	Content
Uniprot ID	P22387; P70203; P97338;
Entrez ID	13614
Genbank protein ID	AAH29547.1; AAA74439.1; BAA11109.1; AAP13983.1; BAA07830.1; AAA97608.1;
Genbank nucleotide ID	NM_010104.4
Ensembl protein ID	ENSMUSP00000021796
Ensembl nucleotide ID	ENSMUSG00000021367
Gene name	Endothelin-1
Gene symbol	Edn1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	8152482; 15110048; 25725491;
Functional description	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 (By similarity).
Sequence	MDYFPVIFSL LFVTFQGAPE TAVLGAELST GAENGVQSPP PSTPWRPRRS KRCSCSSLMD 60 KECVYFCHLD IIWVNTPERV VPYGLGGSSR SKRSLKDLLP NKATDQAVRC QCAHQKDKKC 120 WNFCQAGKEL RAQSTMQKSL KDSKKGKPCS KLGKKCIYQQ LVEGRKLRRL EAISNSIKAS 180 FRVAKLKAEL YRDQKLTHNR AH 202

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	EDN1	281137	P17322		Bos taurus	Prediction	More>>
1:1 ortholog	EDN1	403424	P13206		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EDN1	102175912	A0A452E9X3		Capra hircus	Prediction	More>>
1:1 ortholog	EDN1	100034060	F7APB1		Equus caballus	Prediction	More>>
1:1 ortholog	EDN1	1906	P05305		Homo sapiens	Prediction	More>>
1:1 ortholog	Edn1	13614	P22387	CPO	Mus musculus	Publication	More>>
1:1 ortholog	EDN1	462437	H2QSB1		Pan troglodytes	Prediction	More>>
1:1 ortholog	EDN1		A0A287AHA8		Sus scrofa	Prediction	More>>
1:1 ortholog	EDN1	100009270	P29560		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Edn1	24323	P22388		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs228888123	p.Ser38Thr	missense variant	-	NC_000079.6:g.42303605G>C	UniProt
rs51605614	p.Ser139Gly	missense variant	-	NC_000079.6:g.42305277A>G	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005102	signaling receptor binding	IDA
GO:0005125	cytokine activity	ISO
GO:0005179	hormone activity	ISO
GO:0005515	protein binding	IPI
GO:0031707	endothelin A receptor binding	ISO
GO:0031707	endothelin A receptor binding	IPI
GO:0031708	endothelin B receptor binding	ISO

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISO
GO:0001501	skeletal system development	IMP
GO:0001516	prostaglandin biosynthetic process	ISO
GO:0001569	branching involved in blood vessel morphogenesis	IMP
GO:0001666	response to hypoxia	IMP
GO:0001701	in utero embryonic development	IMP
GO:0001821	histamine secretion	ISO
GO:0003100	regulation of systemic arterial blood pressure by endothelin	ISO
GO:0006885	regulation of pH	IDA
GO:0007166	cell surface receptor signaling pathway	ISO
GO:0007186	G protein-coupled receptor signaling pathway	ISO
GO:0007186	G protein-coupled receptor signaling pathway	TAS
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IGI
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA
GO:0007204	positive regulation of cytosolic calcium ion concentration	ISO
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	IDA
GO:0007267	cell-cell signaling	ISO
GO:0007507	heart development	IMP
GO:0007585	respiratory gaseous exchange by respiratory system	IMP
GO:0007589	body fluid secretion	IMP
GO:0008217	regulation of blood pressure	ISO
GO:0008217	regulation of blood pressure	IMP
GO:0008284	positive regulation of cell population proliferation	ISO
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0009953	dorsal/ventral pattern formation	IMP
GO:0010193	response to ozone	IEA
GO:0010259	multicellular organism aging	IEA
GO:0010460	positive regulation of heart rate	ISO
GO:0010613	positive regulation of cardiac muscle hypertrophy	ISO
GO:0010629	negative regulation of gene expression	ISO
GO:0010827	regulation of glucose transmembrane transport	IDA
GO:0010870	positive regulation of receptor biosynthetic process	ISO
GO:0014032	neural crest cell development	IMP
GO:0014065	phosphatidylinositol 3-kinase signaling	ISO
GO:0014823	response to activity	IEA
GO:0014824	artery smooth muscle contraction	ISO
GO:0014826	vein smooth muscle contraction	ISO
GO:0019229	regulation of vasoconstriction	IEA
GO:0019233	sensory perception of pain	ISO
GO:0019722	calcium-mediated signaling	ISO
GO:0030072	peptide hormone secretion	ISO
GO:0030185	nitric oxide transport	ISO
GO:0030335	positive regulation of cell migration	ISO
GO:0031583	phospholipase D-activating G protein-coupled receptor signaling pathway	IDA
GO:0032269	negative regulation of cellular protein metabolic process	ISO
GO:0032308	positive regulation of prostaglandin secretion	ISO
GO:0032496	response to lipopolysaccharide	IEA
GO:0033574	response to testosterone	IEA
GO:0034392	negative regulation of smooth muscle cell apoptotic process	ISO
GO:0034696	response to prostaglandin F	IEA
GO:0035094	response to nicotine	IEA
GO:0035556	intracellular signal transduction	ISO
GO:0035690	cellular response to drug	IEA
GO:0035810	positive regulation of urine volume	IGI
GO:0035810	positive regulation of urine volume	IMP
GO:0035815	positive regulation of renal sodium excretion	IMP
GO:0035994	response to muscle stretch	IEA
GO:0042045	epithelial fluid transport	ISO
GO:0042310	vasoconstriction	ISO
GO:0042313	protein kinase C deactivation	ISO
GO:0042474	middle ear morphogenesis	IMP
GO:0042482	positive regulation of odontogenesis	ISO
GO:0042554	superoxide anion generation	ISO
GO:0043179	rhythmic excitation	IMP
GO:0043200	response to amino acid	IEA
GO:0043406	positive regulation of MAP kinase activity	ISO
GO:0043507	positive regulation of JUN kinase activity	ISO
GO:0044321	response to leptin	IEA
GO:0045793	positive regulation of cell size	ISO
GO:0045840	positive regulation of mitotic nuclear division	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045987	positive regulation of smooth muscle contraction	ISO
GO:0045987	positive regulation of smooth muscle contraction	IDA
GO:0046887	positive regulation of hormone secretion	ISO
GO:0046888	negative regulation of hormone secretion	ISO
GO:0048016	inositol phosphate-mediated signaling	ISO
GO:0048514	blood vessel morphogenesis	IMP
GO:0048661	positive regulation of smooth muscle cell proliferation	ISO
GO:0051091	positive regulation of DNA-binding transcription factor activity	ISO
GO:0051216	cartilage development	IMP
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IDA
GO:0051771	negative regulation of nitric-oxide synthase biosynthetic process	ISO
GO:0051899	membrane depolarization	ISO
GO:0051930	regulation of sensory perception of pain	ISO
GO:0060137	maternal process involved in parturition	IEA
GO:0060298	positive regulation of sarcomere organization	ISO
GO:0060585	positive regulation of prostaglandin-endoperoxide synthase activity	ISO
GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	ISO
GO:0071277	cellular response to calcium ion	IEA
GO:0071346	cellular response to interferon-gamma	IEA
GO:0071347	cellular response to interleukin-1	IEA
GO:0071356	cellular response to tumor necrosis factor	IEA
GO:0071375	cellular response to peptide hormone stimulus	IEA
GO:0071385	cellular response to glucocorticoid stimulus	IEA
GO:0071389	cellular response to mineralocorticoid stimulus	IEA
GO:0071398	cellular response to fatty acid	IEA
GO:0071456	cellular response to hypoxia	IEA
GO:0071548	response to dexamethasone	IEA
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA
GO:0086100	endothelin receptor signaling pathway	ISS
GO:0086100	endothelin receptor signaling pathway	ISO
GO:0090023	positive regulation of neutrophil chemotaxis	ISO
GO:1901224	positive regulation of NIK/NF-kappaB signaling	ISO
GO:1902074	response to salt	IEA
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	ISO

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISO
GO:0005615	extracellular space	IDA
GO:0005623	cell	IEA
GO:0005737	cytoplasm	ISO
GO:0033093	Weibel-Palade body	ISO
GO:0045178	basal part of cell	ISO
GO:0048237	rough endoplasmic reticulum lumen	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-162582	Signal Transduction	IEA
R-MMU-372790	Signaling by GPCR	IEA
R-MMU-373076	Class A/1 (Rhodopsin-like receptors)	IEA
R-MMU-375276	Peptide ligand-binding receptors	IEA
R-MMU-388396	GPCR downstream signalling	IEA
R-MMU-416476	G alpha (q) signalling events	IEA
R-MMU-500792	GPCR ligand binding	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0165	Cleavage on pair of basic residues
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0838	Vasoactive
KW-0839	Vasoconstrictor

Interpro

InterPro ID	InterPro Term
IPR020475	Endothelin
IPR019764	Endothelin_toxin_CS
IPR001928	Endothln-like_toxin

PROSITE

PROSITE ID	PROSITE Term
PS00270	ENDOTHELIN

Pfam

Pfam ID	Pfam Term
PF00322	Endothelin

Gene: Edn1

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction