LOCUS       NM_207034               2452 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens endothelin 3 (EDN3), transcript variant 4, mRNA.
ACCESSION   NM_207034
VERSION     NM_207034.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2452)
  AUTHORS   Wang,C.H., Tsuji,T., Wu,L.H., Yang,C.Y., Huang,T.L., Sato,M.,
            Shamsi,F. and Tseng,Y.H.
  TITLE     Endothelin 3/EDNRB signaling induces thermogenic differentiation of
            white adipose tissue
  JOURNAL   Nat Commun 15 (1), 7215 (2024)
   PUBMED   39174539
  REMARK    GeneRIF: Endothelin 3/EDNRB signaling induces thermogenic
            differentiation of white adipose tissue.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2452)
  AUTHORS   Zmarzly,N., Januszyk,S., Mieszczanski,P., Morawiec,E., Buda,P.,
            Dziobek,K., Oplawski,M. and Boron,D.
  TITLE     Endothelin-3 is epigenetically silenced in endometrioid endometrial
            cancer
  JOURNAL   J Cancer Res Clin Oncol 149 (9), 5687-5696 (2023)
   PUBMED   36542159
  REMARK    GeneRIF: Endothelin-3 is epigenetically silenced in endometrioid
            endometrial cancer.
REFERENCE   3  (bases 1 to 2452)
  AUTHORS   Chen,H., Cai,B., Liu,K. and Hua,Q.
  TITLE     miR-27a-3p regulates the inhibitory influence of endothelin 3 on
            the tumorigenesis of papillary thyroid cancer cells
  JOURNAL   Mol Med Rep 23 (4) (2021)
   PUBMED   33537832
  REMARK    GeneRIF: miR27a3p regulates the inhibitory influence of endothelin
            3 on the tumorigenesis of papillary thyroid cancer cells.
            Erratum:[Mol Med Rep. 2021 Jun;23(6):466. doi:
            10.3892/mmr.2021.12105.. PMID: 33880586]
REFERENCE   4  (bases 1 to 2452)
  AUTHORS   Monti,L., Arrigucci,U. and Rossi,A.
  TITLE     Insights into Endothelin-3 and Multiple Sclerosis
  JOURNAL   Biomol Concepts 11 (1), 137-141 (2020)
   PUBMED   32589590
  REMARK    GeneRIF: Insights into Endothelin-3 and Multiple Sclerosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2452)
  AUTHORS   Lee,S., Lin,M., Mele,A., Cao,Y., Farmar,J., Russo,D. and Redman,C.
  TITLE     Proteolytic processing of big endothelin-3 by the kell blood group
            protein
  JOURNAL   Blood 94 (4), 1440-1450 (1999)
   PUBMED   10438732
REFERENCE   6  (bases 1 to 2452)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   7  (bases 1 to 2452)
  AUTHORS   O'Reilly,G., Charnock-Jones,D.S., Davenport,A.P., Cameron,I.T. and
            Smith,S.K.
  TITLE     Presence of messenger ribonucleic acid for endothelin-1,
            endothelin-2, and endothelin-3 in human endometrium and a change in
            the ratio of ETA and ETB receptor subtype across the menstrual
            cycle
  JOURNAL   J Clin Endocrinol Metab 75 (6), 1545-1549 (1992)
   PUBMED   1464662
REFERENCE   8  (bases 1 to 2452)
  AUTHORS   Mills,R.G., O'Donoghue,S.I., Smith,R. and King,G.F.
  TITLE     Solution structure of endothelin-3 determined using NMR
            spectroscopy
  JOURNAL   Biochemistry 31 (24), 5640-5645 (1992)
   PUBMED   1610811
REFERENCE   9  (bases 1 to 2452)
  AUTHORS   Sakamoto,A., Yanagisawa,M., Sakurai,T., Takuwa,Y., Yanagisawa,H.
            and Masaki,T.
  TITLE     Cloning and functional expression of human cDNA for the ETB
            endothelin receptor
  JOURNAL   Biochem Biophys Res Commun 178 (2), 656-663 (1991)
   PUBMED   1713452
REFERENCE   10 (bases 1 to 2452)
  AUTHORS   Bloch,K.D., Eddy,R.L., Shows,T.B. and Quertermous,T.
  TITLE     cDNA cloning and chromosomal assignment of the gene encoding
            endothelin 3
  JOURNAL   J Biol Chem 264 (30), 18156-18161 (1989)
   PUBMED   2509452
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008876.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_207034.2.
            
            Summary: The protein encoded by this gene is a member of the
            endothelin family. Endothelins are endothelium-derived vasoactive
            peptides involved in a variety of biological functions. The active
            form of this protein is a 21 amino acid peptide processed from the
            precursor protein. The active peptide is a ligand for endothelin
            receptor type B (EDNRB). The interaction of this endothelin with
            EDNRB is essential for development of neural crest-derived cell
            lineages, such as melanocytes and enteric neurons. Mutations in
            this gene and EDNRB have been associated with Hirschsprung disease
            (HSCR) and Waardenburg syndrome (WS), which are congenital
            disorders involving neural crest-derived cells. Altered expression
            of this gene is implicated in tumorigenesis. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (4) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC008876.2, SRR1803617.253442.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337938.7/ ENSP00000337128.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2452              BC008876.2         185-2636
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.32"
     gene            1..2452
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /note="endothelin 3"
                     /db_xref="GeneID:1908"
                     /db_xref="HGNC:HGNC:3178"
                     /db_xref="MIM:131242"
     exon            1..254
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /inference="alignment:Splign:2.1.0"
     CDS             203..919
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 4; preproendothelin-3"
                     /codon_start=1
                     /product="endothelin-3 isoform 1 preproprotein"
                     /protein_id="NP_996917.1"
                     /db_xref="CCDS:CCDS13477.1"
                     /db_xref="GeneID:1908"
                     /db_xref="HGNC:HGNC:3178"
                     /db_xref="MIM:131242"
                     /translation="MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEG
                     DCEETVAGPGEETVAGPGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCFTY
                     KDKECVYYCHLDIIWINTPEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCA
                     CVGRYDKACLHFCTQTLDVSSNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPG
                     SGLALAPSTCPRCLFQEGAP"
     exon            255..567
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            568..744
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            745..790
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /inference="alignment:Splign:2.1.0"
     exon            791..2452
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2427..2432
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /note="hexamer: AATAAA"
     polyA_site      2452
                     /gene="EDN3"
                     /gene_synonym="ET-3; ET3; HSCR4; PPET3; WS4B"
                     /note="major polyA site"
ORIGIN      
        1 gcgcagggat gggcagcgcg ctctgaaagt ttatgaccgc cgcagccaac tcctggccgg
       61 agctggagac gcagcgagcg atcggccggc ctcgaacccc cacagctgga gggcgaggcc
      121 agctgtaccc ggccccagtg ccctttcgcg gccacaagcg gccgtcctcc tggtccggtg
      181 ctccggcgcc tgatctaggt tcatggagcc ggggctgtgg ctccttttcg ggctcacagt
      241 gacctccgcc gcaggattcg tgccttgctc ccagtctggg gatgctggca ggcgcggcgt
      301 gtcccaggcc cccactgcag ccagatctga gggggactgt gaagagactg tggctggccc
      361 tggcgaggag actgtggctg gccctggcga ggggactgtg gccccgacag cactgcaggg
      421 tccaagccct ggaagccctg ggcaggagca ggcggccgag ggggcccctg agcaccaccg
      481 atccaggcgc tgcacgtgct tcacctacaa ggacaaggag tgtgtctact attgccacct
      541 ggacatcatt tggatcaaca ctcccgaaca gacggtgccc tatggactgt ccaactacag
      601 aggaagcttc cggggcaaga ggtctgcggg gccacttcca gggaatctgc agctctcaca
      661 tcggccacac ttgcgctgcg cttgtgtggg gagatatgac aaggcctgcc tgcacttttg
      721 cacccaaact ctggacgtca gcagtaattc aaggacggca gaaaaaacag acaaagaaga
      781 ggaagggaag gttgaagtca aggaccaaca aagcaagcag gctttagacc tccaccatcc
      841 aaagctcatg cccggcagtg gactcgccct cgctccatct acctgccccc gctgcctctt
      901 tcaggaagga gccccttagg aggacaggcc tgcagcatcc tggtctcggg aggcttctgt
      961 cattgctcac acacagttca gatttccacc tctttataga caagaagtga atttgcctgg
     1021 ggcagaacac ccacccaaag agtccccact taacaatacc ccccccccac ggcaagaatg
     1081 cccaaatccg aatgacccca gttttcctaa tgagtaaaat gatcccagat gtgccccaga
     1141 gcatgacgcc tgcagctccg gtttcatgca ggaaattggt tttggagagt tttggcaagt
     1201 tggaaagcca cttactggct tttgacatga cttctcttgg agaataagtg gactccaagc
     1261 taactctttg caaatgtaaa cacatgtcca tcttgtaata aatgcaaaat gcccgtgcag
     1321 cagaagcatg cgactttcat atccttgcct agaataggct gcatggtgta tgtcagtgag
     1381 ggccacgagg cgtcggcttt agacacagat catagctcta caggagttta tgaatttgaa
     1441 gcttatggga ttttggcaga gaaattttca gctgtgcttg atacccacca aaagaatgta
     1501 tctcgaaaga atgaaggaag aagaaaaaag gatccttgat gtttgtgaca agaaaatgag
     1561 aaagttagta tctgcaatac agagcttgtt cctgttcagt gactgaccct ctgtattctg
     1621 tatagacacc aggccgatac acagtggagt tcccaggcct tgtttgcagg aagccgactg
     1681 taaagacagc cccagctcaa ggctattagg ttgaatattt gctttcatga gtaaatgtgg
     1741 atctttgggg aatggcttca aaataagtca cgaacacaaa ttctttgtaa attatgtaaa
     1801 ttcctgttta tataaattgg caacaactta taccgtctga cagttcaaaa tctctttcag
     1861 ctgcgctctt cccaccgagc cgagcttact gtgagtgtgg agatgttatc ccaccatgta
     1921 aagtcgcctg cgcaggggag ggctgcccat ctccccaacc cagtcacaga gagataggaa
     1981 acggcatttg agtgggtgtc cagggccccg tagagagaca tttaagatgg tgtatgacag
     2041 agcattggcc ttgaccaaat gttaaatcct ctgtgtgtat ttcataagtt attacaggta
     2101 taaaagtgat gacctatcat gaggaaatga aagtggctga tttgctggta ggattttgta
     2161 cagtttagag aagcgattat ttattgtgaa actgttctcc actccaactc ctttatgtgg
     2221 atctgttcaa agtagtcact gtatatacgt atagagaggt agataggtag gtagatttta
     2281 aattgcattc tgaatacaaa ctcatactcc ttagagcttg aattacattt ttaaaatgca
     2341 tatgtgctgt ttggcaccgt ggcaagatgg tatcagagag aaacccatca attgctcaaa
     2401 tactcagaaa gtactgtcaa aagcctaata aaaaacctaa agtttgctct ga
//
