LOCUS       NM_001397               5067 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens endothelin converting enzyme 1 (ECE1), transcript
            variant 1, mRNA.
ACCESSION   NM_001397
VERSION     NM_001397.3
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 5067)
  AUTHORS   Almarza,C., Villalobos-Nova,K., Toro,M.A., Gonzalez,M., Niechi,I.,
            Brown-Brown,D.A., Lopez-Munoz,R.A., Silva-Pavez,E.,
            Gaete-Ramirez,B., Varas-Godoy,M., Burzio,V.A., Jara,L., Aguayo,F.
            and Tapia,J.C.
  TITLE     Cisplatin-resistance and aggressiveness are enhanced by a highly
            stable endothelin-converting enzyme-1c in lung cancer cells
  JOURNAL   Biol Res 57 (1), 74 (2024)
   PUBMED   39443981
  REMARK    GeneRIF: Cisplatin-resistance and aggressiveness are enhanced by a
            highly stable endothelin-converting enzyme-1c in lung cancer cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5067)
  AUTHORS   Sun,Z., Zhao,C., Liu,X., Zhang,P., Wang,X., Man,X., Li,Z., Du,Y.,
            Che,X. and Xiang,Y.
  TITLE     Mutation analysis of the ECE1 gene in late-onset Alzheimer's
            disease
  JOURNAL   Neurobiol Aging 129, 58-61 (2023)
   PUBMED   37271044
  REMARK    GeneRIF: Mutation analysis of the ECE1 gene in late-onset
            Alzheimer's disease.
REFERENCE   3  (bases 1 to 5067)
  AUTHORS   Liang,Z., Shi,Y. and Guan,Z.
  TITLE     CircECE1 promotes osteosarcoma progression through regulating RAB3D
            by sponging miR-588
  JOURNAL   J Orthop Surg Res 18 (1), 587 (2023)
   PUBMED   37559140
  REMARK    GeneRIF: CircECE1 promotes osteosarcoma progression through
            regulating RAB3D by sponging miR-588.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5067)
  AUTHORS   Wang,Y., Wang,B., Zhou,F., Lv,K., Xu,X. and Cao,W.
  TITLE     CircNDC80 promotes glioblastoma multiforme tumorigenesis via the
            miR-139-5p/ECE1 pathway
  JOURNAL   J Transl Med 21 (1), 22 (2023)
   PUBMED   36635757
  REMARK    GeneRIF: CircNDC80 promotes glioblastoma multiforme tumorigenesis
            via the miR-139-5p/ECE1 pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5067)
  AUTHORS   Salim,E., Ramachandran,V., Ansari,N., Ismail,P., Mohamed,M.H.,
            Mohamad,N.A. and Inche Mat,L.N.
  TITLE     Association of Endothelin-Converting Enzyme and Endothelin-1 Gene
            Polymorphisms with Essential Hypertension in Malay Ethnics
  JOURNAL   Genet Res (Camb) 2022, 9129960 (2022)
   PUBMED   35645613
  REMARK    GeneRIF: Association of Endothelin-Converting Enzyme and
            Endothelin-1 Gene Polymorphisms with Essential Hypertension in
            Malay Ethnics.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5067)
  AUTHORS   Yorimitsu,K., Moroi,K., Inagaki,N., Saito,T., Masuda,Y., Masaki,T.,
            Seino,S. and Kimura,S.
  TITLE     Cloning and sequencing of a human endothelin converting enzyme in
            renal adenocarcinoma (ACHN) cells producing endothelin-2
  JOURNAL   Biochem Biophys Res Commun 208 (2), 721-727 (1995)
   PUBMED   7695628
REFERENCE   7  (bases 1 to 5067)
  AUTHORS   Shimada,K., Matsushita,Y., Wakabayashi,K., Takahashi,M.,
            Matsubara,A., Iijima,Y. and Tanzawa,K.
  TITLE     Cloning and functional expression of human endothelin-converting
            enzyme cDNA
  JOURNAL   Biochem Biophys Res Commun 207 (2), 807-812 (1995)
   PUBMED   7864876
REFERENCE   8  (bases 1 to 5067)
  AUTHORS   Schmidt,M., Kroger,B., Jacob,E., Seulberger,H., Subkowski,T.,
            Otter,R., Meyer,T., Schmalzing,G. and Hillen,H.
  TITLE     Molecular characterization of human and bovine endothelin
            converting enzyme (ECE-1)
  JOURNAL   FEBS Lett 356 (2-3), 238-243 (1994)
   PUBMED   7805846
REFERENCE   9  (bases 1 to 5067)
  AUTHORS   Xu,D., Emoto,N., Giaid,A., Slaughter,C., Kaw,S., deWit,D. and
            Yanagisawa,M.
  TITLE     ECE-1: a membrane-bound metalloprotease that catalyzes the
            proteolytic activation of big endothelin-1
  JOURNAL   Cell 78 (3), 473-485 (1994)
   PUBMED   8062389
REFERENCE   10 (bases 1 to 5067)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC117256.1, Z35307.1,
            AL031005.2, BC106022.1 and BU733112.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001397.2.
            
            Summary: The protein encoded by this gene is involved in
            proteolytic processing of endothelin precursors to biologically
            active peptides. Mutations in this gene are associated with
            Hirschsprung disease, cardiac defects and autonomic dysfunction.
            Alternatively spliced transcript variants encoding different
            isoforms have been noted for this gene.[provided by RefSeq, Sep
            2009].
            
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1 also known as isoform b).
            
            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 :: SRR1660809.258431.1,
                                           SRR1660809.141391.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374893.11/ ENSP00000364028.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                BC117256.1         27-93
            68-2780             Z35307.1           5-2717
            2781-4019           AL031005.2         46290-47528         c
            4020-4672           BC106022.1         83-735
            4673-5067           BU733112.1         22-416              c
FEATURES             Location/Qualifiers
     source          1..5067
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..5067
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /note="endothelin converting enzyme 1"
                     /db_xref="GeneID:1889"
                     /db_xref="HGNC:HGNC:3146"
                     /db_xref="MIM:600423"
     exon            1..100
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..2362
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /EC_number="3.4.24.71"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ECE-1"
                     /codon_start=1
                     /product="endothelin-converting enzyme 1 isoform 1"
                     /protein_id="NP_001388.1"
                     /db_xref="CCDS:CCDS215.1"
                     /db_xref="GeneID:1889"
                     /db_xref="HGNC:HGNC:3146"
                     /db_xref="MIM:600423"
                     /translation="MRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNG
                     LQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQTRSPSVCLSE
                     ACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAII
                     KHLLENSTASVSEAERKAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKD
                     NFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEK
                     VLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKV
                     TAAELQTLAPAINWLPFLNTIFYPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNN
                     YMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKTCLPRWKFCVSDTENNLGFALGPM
                     FVKATFAEDSKSIATEIILEIKKAFEESLSTLKWMDEETRKSAKEKADAIYNMIGYPN
                     FIMDPKELDKVFNDYTAVPDLYFENAMRFFNFSWRVTADQLRKAPNRDQWSMTPPMVN
                     AYYSPTKNEIVFPAGILQAPFYTRSSPKALNFGGIGVVVGHELTHAFDDQGREYDKDG
                     NLRPWWKNSSVEAFKRQTECMVEQYSNYSVNGEPVNGRHTLGENIADNGGLKAAYRAY
                     QNWVKKNGAEHSLPTLGLTNNQLFFLGFAQVWCSVRTPESSHEGLITDPHSPSRFRVI
                     GSLSNSKEFSEHFRCPPGSPMNPPHKCEVW"
     exon            101..187
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            188..329
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            330..542
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            543..664
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            665..811
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            812..877
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1069
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1212
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1327
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1438
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1537
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..1615
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1719
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1720..1830
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1831..1898
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2089
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            2090..2185
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     exon            2186..5067
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2784
                     /gene="ECE1"
                     /gene_synonym="ECE"
     regulatory      5048..5053
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /note="hexamer: AATAAA"
     polyA_site      5067
                     /gene="ECE1"
                     /gene_synonym="ECE"
                     /note="major polyA site"
ORIGIN      
        1 atcccatccc ggccacccgg gcagcgggac caggcgtctg gggcacagca tgcggggcgt
       61 gtggccgccc ccggtgtccg ccctgctgtc ggcgctgggg atgtcgacgt acaagcgggc
      121 cacgctggac gaggaggacc tggtggactc gctctccgag ggcgacgcat accccaacgg
      181 cctgcaggtg aacttccaca gcccccggag tggccagagg tgctgggctg cacggaccca
      241 ggtggagaag cggctggtgg tgttggtggt acttctggcg gcaggactgg tggcctgctt
      301 ggcagcactg ggcatccagt accagacaag atccccctct gtgtgcctga gcgaagcttg
      361 tgtctcagtg accagctcca tcttgagctc catggacccc acagtggacc cctgccatga
      421 cttcttcagc tacgcctgtg ggggctggat caaggccaac ccagtccctg atggccactc
      481 acgctggggg accttcagca acctctggga acacaaccaa gcaatcatca agcacctcct
      541 cgaaaactcc acggccagcg tgagcgaggc agagagaaag gcgcaagtat actaccgtgc
      601 gtgcatgaac gagaccagga tcgaggagct cagggccaaa cctctaatgg agttgattga
      661 gaggctcggg ggctggaaca tcacaggtcc ctgggccaag gacaacttcc aggacaccct
      721 gcaggtggtc accgcccact accgcacctc acccttcttc tctgtctatg tcagtgccga
      781 ttccaagaac tccaacagca acgtgatcca ggtggaccag tctggcctgg gcttgccctc
      841 gagagactat tacctgaaca aaactgaaaa cgagaaggtg ctgaccggat atctgaacta
      901 catggtccag ctggggaagc tgctgggcgg cggggacgag gaggccatcc ggccccagat
      961 gcagcagatc ttggactttg agacggcact ggccaacatc accatcccac aggagaagcg
     1021 ccgtgatgag gagctcatct accacaaagt gacggcagcc gagctgcaga ccttggcacc
     1081 cgccatcaac tggttgcctt ttctcaacac catcttctac cccgtggaga tcaatgaatc
     1141 cgagcctatt gtggtctatg acaaggaata ccttgagcag atctccactc tcatcaacac
     1201 caccgacaga tgcctgctca acaactacat gatctggaac ctggtgcgga aaacaagctc
     1261 cttccttgac cagcgctttc aggacgccga tgagaagttc atggaagtca tgtacgggac
     1321 caagaagacc tgtcttcctc gctggaagtt ttgcgtgagt gacacagaaa acaacctggg
     1381 ctttgcgttg ggccccatgt ttgtcaaagc aaccttcgcc gaggacagca agagcatagc
     1441 caccgagatc atcctggaga ttaagaaggc atttgaggaa agcctgagca ccctgaagtg
     1501 gatggatgag gaaacccgaa aatcagccaa ggaaaaggcc gatgccatct acaacatgat
     1561 aggatacccc aacttcatca tggatcccaa ggagctggac aaagtgttta atgactacac
     1621 tgcagttcca gacctctact ttgaaaatgc catgcggttt ttcaacttct catggagggt
     1681 cactgccgat cagctcagga aagcccccaa cagagatcag tggagcatga ccccgcccat
     1741 ggtgaacgcc tactactcgc ccaccaagaa tgagattgtg tttccggccg ggatcctgca
     1801 ggcaccattc tacacacgct cctcacccaa ggccttaaac tttggtggca taggtgtcgt
     1861 cgtgggccat gagctgactc atgcttttga tgatcaagga cgggagtatg acaaggacgg
     1921 gaacctccgg ccatggtgga agaactcatc cgtggaggcc ttcaagcgtc agaccgagtg
     1981 catggtagag cagtacagca actacagcgt gaacggggag ccggtgaacg ggcggcacac
     2041 cctgggggag aacatcgccg acaacggggg tctcaaggcg gcctatcggg cttaccagaa
     2101 ctgggtgaag aagaacgggg ctgagcactc gctccccacc ctgggcctca ccaataacca
     2161 gctcttcttc ctgggctttg cacaggtctg gtgctccgtc cgcacacctg agagctccca
     2221 cgaaggcctc atcaccgatc cccacagccc ctctcgcttc cgggtcatcg gctccctctc
     2281 caattccaag gagttctcag aacacttccg ctgcccacct ggctcaccca tgaacccgcc
     2341 tcacaagtgc gaagtctggt aaggacgaag cggagagagc caagacggag gaggggaagg
     2401 ggctgaggac gagaccccca tccagcctcc agggcattgc tcagcccgct tggccacccg
     2461 gggccctgct tcctcacact ggcgggtttt cagccggaac cgagcccatg gtgttggctc
     2521 tcaacgtgac ccgcagtctg atcccctgtg aagagccgga catcccaggc acacgtgtgc
     2581 gccaccttca gcaggcattc gggtgctggg ctggtggctc atcaggcctg ggccccacac
     2641 tgacaagcgc cagatacgcc acaaatacca ctgtgtcaaa tgctttcaag atatattttt
     2701 ggggaaacta ttttttaaac actgtggaat acactggaaa tcttcaggga aaaacacatt
     2761 taaacacttt tttttttaag gaaagaattg gtatatttat tatgttctgt ttttctaaat
     2821 aacctgtgga caagggaagc cccactgatt tactccctct cttccccact ccctgtgagg
     2881 ctgggctgag gcacggatcc ctgggccaca gagcaagtct ccaaatcaga cagctgcctc
     2941 agcccctggg atgtgtgatt tcagctcctg tcacctcatg caagggcgtg gagaccagta
     3001 gaggtgtgga ggccaggcag agagaggagc ctgctctgcg gggggcccag ctcatgggca
     3061 ctgccccttc agctagcctg cctccgtccc ctgagtccaa cagtgggagc cctagctggg
     3121 aagttctgat ccccaaagcc acagcagggg actgatggct atagcagaat gaggtcgggt
     3181 caggaccctc aaacaccatc tgggaacacc aagcaccctg aatcgagact gcaggagccc
     3241 tgcggggtga gactgtgtca gagatacact gctggccaca agtgtcccct ctcagtccca
     3301 ccttttcggg ctgtcccatg tctatctcag gggcccgtta cctctctgca gcagtccccc
     3361 atcccagcca caccagggtc tgtccggcca accctcttcc ccagggaaag gagaaaagag
     3421 aaaacaggct gggcccggtg gctcactcct gtaatcccag cactttggga ggttgaggtg
     3481 ggcggatcac ctgaggtcag gagtttgaga ccagcctggc caacgtggtg aaaccccatc
     3541 tctactaaaa aaaattacaa aaattagccg ggagtggtgg tgggcacctg taatcccagt
     3601 tactcgggag gctgaggcaa gagaatctct tgagctcagg aggcagaggt tgcagtgagc
     3661 tgagattgcg ccactgcact ccagcctggg tgacagaggg agactccgtc ccaaaaaaaa
     3721 gaaaagagaa acagctgtca cctcccgcag gacccaaatc ctctctctga gcaccgtcat
     3781 ccaccacatg gctgggcctg gctcccagga ccagtccagt cctctagtgc cttatctgag
     3841 gctgcagccg ccagtctcca ccccaaggag acagcccctg ctcctagatg cccttggcct
     3901 ccgcagtgca gcccccaggt gtcctgactg aagcacaggc catagcccca tttccccggt
     3961 gcctgcaggg ctaacctcca cgggagccca ggagctctgg ccggcaggtc catggcacag
     4021 ggcatcggaa gactgcaaaa ctgctggact taccctgggc tgcagtccat tgtcggcccc
     4081 tgggttgaat caagatagta cttgcagcta gatggatgct tttagccagg ggacattgtg
     4141 aggggaagat tcctccaccc agtctggcct gtggtgtctg tctcctccct gagaccacag
     4201 cttctccagt agcagactca tgggcgccac caagtggaag cacctggagc ggcctctgcc
     4261 atccagtggg gaagccaggc cccgagacgg aggtgggggc agcacgtgcc ctccacagcc
     4321 accgctttcc cgcctcagca gcccaggcct cctggcccag ccctgcctgg acagtgctct
     4381 cccctcaccc gggaagctgg aatcctcctg cccgagagga agcagacggc acagggacac
     4441 ccctgccacc ttgggatctg cctccaagct ggtgcagggt atcgagagtg gattccagat
     4501 ggaggtcctg gtcccagcac gcagcagtcc tggtagctct gcagaggaga caggaacccg
     4561 agaagtagct gaagcagaag ccagccgcag tccccttgcc acatagaggc gggcttctcc
     4621 cagccatggt gtcccctctg cctcccctcc cccgaccctc ctgccttccg cgtggagggt
     4681 ggtggtcctg tagtgtcagc accagcacca tgggcttgga ccccctccct ggacacaggc
     4741 aggtgtccta gggctggggg tgcagcccga gggaatggag accacactca tggctcaggt
     4801 ctgccggggc cggcaggggg ttggggaaga agagggctca ggcccagcag gggtggaagc
     4861 ccctgccact gccactaccc gctccagagc tttaaggaaa atgaagtgag acccctcccc
     4921 ttaggcctgg ggagccatag ggctggcttc tctgtgggtg cgtggacgtg gggttgggag
     4981 ctgggaatct attttttgta ttatgttttg agctactgta gttttggcgt ggcactattg
     5041 taatggaaat aaaatacttg tacggag
//
