LOCUS       NM_001100121            3223 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens endothelin converting enzyme 2 (ECE2), transcript
            variant 5, mRNA.
ACCESSION   NM_001100121
VERSION     NM_001100121.2
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 3223)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3223)
  AUTHORS   Liao,X., Cai,F., Sun,Z., Zhang,Y., Wang,J., Jiao,B., Guo,J., Li,J.,
            Liu,X., Guo,L., Zhou,Y., Wang,J., Yan,X., Jiang,H., Xia,K., Li,J.,
            Tang,B., Shen,L. and Song,W.
  TITLE     Identification of Alzheimer's disease-associated rare coding
            variants in the ECE2 gene
  JOURNAL   JCI Insight 5 (4), 135119 (2020)
   PUBMED   32102983
  REMARK    GeneRIF: Identification of Alzheimer's disease-associated rare
            coding variants in the ECE2 gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3223)
  AUTHORS   Smith-Anttila,C.J.A., Bensing,S., Alimohammadi,M., Dalin,F.,
            Oscarson,M., Zhang,M.D., Perheentupa,J., Husebye,E.S.,
            Gustafsson,J., Bjorklund,P., Fransson,A., Nordmark,G., Ronnblom,L.,
            Meloni,A., Scott,R.J., Hokfelt,T., Crock,P.A. and Kampe,O.
  TITLE     Identification of endothelin-converting enzyme-2 as an autoantigen
            in autoimmune polyendocrine syndrome type 1
  JOURNAL   Autoimmunity 50 (4), 223-231 (2017)
   PUBMED   28557628
  REMARK    GeneRIF: this is the first report of ECE-2 being an autoantigen in
            humans. We have identified ECE-2 as a specific autoantigen in APS1
            with a restricted neuroendocrine distribution.
REFERENCE   4  (bases 1 to 3223)
  AUTHORS   Miners,J.S. and Love,S.
  TITLE     Endothelin-converting enzymes degrade alpha-synuclein and are
            reduced in dementia with Lewy bodies
  JOURNAL   J Neurochem 141 (2), 275-286 (2017)
   PUBMED   28171705
  REMARK    GeneRIF: ECE-2 and ECE-1 levels are significantly reduced in
            post-mortem brain from dementia with Lewy body patients.
REFERENCE   5  (bases 1 to 3223)
  AUTHORS   Hamilton,G., Harris,S.E., Davies,G., Liewald,D.C., Tenesa,A.,
            Payton,A., Horan,M.A., Ollier,W.E., Pendleton,N., Starr,J.M.,
            Porteous,D. and Deary,I.J.
  CONSRTM   Genetic and Environmental Risk for Alzheimer's Disease (GERAD1)
            Consortium
  TITLE     The role of ECE1 variants in cognitive ability in old age and
            Alzheimer's disease risk
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 159B (6), 696-709 (2012)
   PUBMED   22693153
REFERENCE   6  (bases 1 to 3223)
  AUTHORS   Yasuda,H., Kamide,K., Takiuchi,S., Matayoshi,T., Hanada,H.,
            Kada,A., Yang,J., Miwa,Y., Yoshii,M., Horio,T., Yoshihara,F.,
            Nakamura,S., Nakahama,H., Tei,C., Miyata,T. and Kawano,Y.
  TITLE     Association of single nucleotide polymorphisms in endothelin family
            genes with the progression of atherosclerosis in patients with
            essential hypertension
  JOURNAL   J Hum Hypertens 21 (11), 883-892 (2007)
   PUBMED   17525706
REFERENCE   7  (bases 1 to 3223)
  AUTHORS   Weeraratna,A.T., Kalehua,A., Deleon,I., Bertak,D., Maher,G.,
            Wade,M.S., Lustig,A., Becker,K.G., Wood,W. 3rd, Walker,D.G.,
            Beach,T.G. and Taub,D.D.
  TITLE     Alterations in immunological and neurological gene expression
            patterns in Alzheimer's disease tissues
  JOURNAL   Exp Cell Res 313 (3), 450-461 (2007)
   PUBMED   17188679
  REMARK    GeneRIF: The most significantly downregulated gene in this data set
            was the endothelin converting enzyme 2 (ECE2), implicated in
            amyloid beta clearance.
REFERENCE   8  (bases 1 to 3223)
  AUTHORS   Iemitsu,M., Maeda,S., Otsuki,T., Sugawara,J., Tanabe,T., Jesmin,S.,
            Kuno,S., Ajisaka,R., Miyauchi,T. and Matsuda,M.
  TITLE     Polymorphism in endothelin-related genes limits exercise-induced
            decreases in arterial stiffness in older subjects
  JOURNAL   Hypertension 47 (5), 928-936 (2006)
   PUBMED   16567585
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3223)
  AUTHORS   Lorenzo,M.N., Khan,R.Y., Wang,Y., Tai,S.C., Chan,G.C., Cheung,A.H.
            and Marsden,P.A.
  TITLE     Human endothelin converting enzyme-2 (ECE2): characterization of
            mRNA species and chromosomal localization
  JOURNAL   Biochim Biophys Acta 1522 (1), 46-52 (2001)
   PUBMED   11718899
REFERENCE   10 (bases 1 to 3223)
  AUTHORS   Davenport,A.P. and Kuc,R.E.
  TITLE     Cellular expression of isoforms of endothelin-converting enzyme-1
            (ECE-1c, ECE-1b and ECE-1a) and endothelin-converting enzyme-2
  JOURNAL   J Cardiovasc Pharmacol 36 (5 Suppl 1), S12-S14 (2000)
   PUBMED   11078322
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC142950.1, AF192531.1, AY359003.1 and AF428263.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001100121.1.
            
            Transcript Variant: This variant (5) differs in the 5' UTR and CDS
            compared to variant 1. The resulting isoform (E) has a distinct
            N-terminus compared to isoform A.
            
            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 :: SRR1803611.12800.1,
                                           SRR1803613.60881.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000404464.8/ ENSP00000385846.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                BC142950.1         12-95
            85-848              AF192531.1         1-764
            849-1463            AY359003.1         729-1343
            1464-2451           AF428263.1         1652-2639
            2452-2722           AY359003.1         2332-2602
            2723-3223           BC142950.1         2647-3147
FEATURES             Location/Qualifiers
     source          1..3223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.1"
     gene            1..3223
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /note="endothelin converting enzyme 2"
                     /db_xref="GeneID:9718"
                     /db_xref="HGNC:HGNC:13275"
                     /db_xref="MIM:610145"
     exon            1..171
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             133..2430
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /EC_number="3.4.24.71"
                     /note="isoform E is encoded by transcript variant 5; EEF1A
                     lysine methyltransferase 4; EEF1AKMT4-ECE2; EEF1AKMT4-ECE2
                     readthrough transcript protein"
                     /codon_start=1
                     /product="endothelin-converting enzyme 2 isoform E"
                     /protein_id="NP_001093591.1"
                     /db_xref="CCDS:CCDS46969.1"
                     /db_xref="GeneID:9718"
                     /db_xref="HGNC:HGNC:13275"
                     /db_xref="MIM:610145"
                     /translation="MNVALQELGAGSNMVEYKRATLRDEDAPETPVEGGASPDAMEVG
                     FQKGTRQLLGSRTQLELVLAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRV
                     AGKILESLDRGVSPCEDFYQFSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLE
                     NTTFNSSSEAEQKTQRFYLSCLQVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFME
                     VLKAVAGTYRATPFFTVYISADSKSSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTA
                     YLDYMEELGMLLGGRPTSTREQMQQVLELEIQLANITVPQDQRRDEEKIYHKMSISEL
                     QALAPSMDWLEFLSFLLSPLELSDSEPVVVYGMDYLQQVSELINRTEPSILNNYLIWN
                     LVQKTTSSLDRRFESAQEKLLETLYGTKKSCVPRWQTCISNTDDALGFALGSLFVKAT
                     FDRQSKEIAEGMISEIRTAFEEALGQLVWMDEKTRQAAKEKADAIYDMIGFPDFILEP
                     KELDDVYDGYEISEDSFFQNMLNLYNFSAKVMADQLRKPPSRDQWSMTPQTVNAYYLP
                     TKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGHELTHAFDDQGREYDKEGNLRPW
                     WQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGENIADNGGLKAAYNAYKAWLR
                     KHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGLVTDPHSPARFRVLGTLSN
                     SRDFLRHFGCPVGSPMNPGQLCEVW"
     exon            172..258
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            259..394
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            395..610
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            611..735
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            736..882
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            883..948
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1137
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1280
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1395
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1506
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1605
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1606..1683
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1787
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..1898
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..1966
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1967..2157
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..2253
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     exon            2254..3223
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3201..3206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /note="hexamer: AATAAA"
     polyA_site      3223
                     /gene="ECE2"
                     /gene_synonym="EEF1AKMT4"
                     /note="major polyA site"
ORIGIN      
        1 gcggccgagc gggggtgctg cgcggcggcc gtgatggctg gtgacggcgg ggccgggcag
       61 gggaccgggg ccgcggcccg ggagcgggcc agctgccggg agccctgaat caccgcctgg
      121 cccgactcca ccatgaacgt cgcgctgcag gagctgggag ctggcagcaa catggtggag
      181 tacaaacggg ccacgcttcg ggatgaagac gcacccgaga cccccgtaga gggcggggcc
      241 tccccggacg ccatggaggt gggattccag aaggggacaa gacagctgtt aggctcacgc
      301 acgcagctgg agctggtctt agcaggtgcc tctctactgc tggctgcact gcttctgggc
      361 tgccttgtgg ccctaggggt ccagtaccac agagacccat cccacagcac ctgccttaca
      421 gaggcctgca ttcgagtggc tggaaaaatc ctggagtccc tggaccgagg ggtgagcccc
      481 tgtgaggact tttaccagtt ctcctgtggg ggctggattc ggaggaaccc cctgcccgat
      541 gggcgttctc gctggaacac cttcaacagc ctctgggacc aaaaccaggc catactgaag
      601 cacctgcttg aaaacaccac cttcaactcc agcagtgaag ctgagcagaa gacacagcgc
      661 ttctacctat cttgcctaca ggtggagcgc attgaggagc tgggagccca gccactgaga
      721 gacctcattg agaagattgg tggttggaac attacggggc cctgggacca ggacaacttt
      781 atggaggtgt tgaaggcagt agcagggacc tacagggcca ccccattctt caccgtctac
      841 atcagtgccg actctaagag ttccaacagc aatgttatcc aggtggacca gtctgggctc
      901 tttctgccct ctcgggatta ctacttaaac agaactgcca atgagaaagt gctcactgcc
      961 tatctggatt acatggagga actggggatg ctgctgggtg ggcggcccac ctccacgagg
     1021 gagcagatgc agcaggtgct ggagttggag atacagctgg ccaacatcac agtgccccag
     1081 gaccagcggc gcgacgagga gaagatctac cacaagatga gcatttcgga gctgcaggct
     1141 ctggcgccct ccatggactg gcttgagttc ctgtctttct tgctgtcacc attggagttg
     1201 agtgactctg agcctgtggt ggtgtatggg atggattatt tgcagcaggt gtcagagctc
     1261 atcaaccgca cggaaccaag catcctgaac aattacctga tctggaacct ggtgcaaaag
     1321 acaacctcaa gcctggaccg acgctttgag tctgcacaag agaagctgct ggagaccctc
     1381 tatggcacta agaagtcctg tgtgccgagg tggcagacct gcatctccaa cacggatgac
     1441 gcccttggct ttgctttggg gtccctcttc gtgaaggcca cgtttgaccg gcaaagcaaa
     1501 gaaattgcag aggggatgat cagcgaaatc cggaccgcat ttgaggaggc cctgggacag
     1561 ctggtttgga tggatgagaa gacccgccag gcagccaagg agaaagcaga tgccatctat
     1621 gatatgattg gtttcccaga ctttatcctg gagcccaaag agctggatga tgtttatgac
     1681 gggtacgaaa tttctgaaga ttctttcttc caaaacatgt tgaatttgta caacttctct
     1741 gccaaggtta tggctgacca gctccgcaag cctcccagcc gagaccagtg gagcatgacc
     1801 ccccagacag tgaatgccta ctaccttcca actaagaatg agatcgtctt ccccgctggc
     1861 atcctgcagg cccccttcta tgcccgcaac caccccaagg ccctgaactt cggtggcatc
     1921 ggtgtggtca tgggccatga gttgacgcat gcctttgatg accaagggcg cgagtatgac
     1981 aaagaaggga acctgcggcc ctggtggcag aatgagtccc tggcagcctt ccggaaccac
     2041 acggcctgca tggaggaaca gtacaatcaa taccaggtca atggggagag gctcaacggc
     2101 cgccagacgc tgggggagaa cattgctgac aacggggggc tgaaggctgc ctacaatgct
     2161 tacaaagcat ggctgagaaa gcatggggag gagcagcaac tgccagccgt ggggctcacc
     2221 aaccaccagc tcttcttcgt gggatttgcc caggtgtggt gctcggtccg cacaccagag
     2281 agctctcacg aggggctggt gaccgacccc cacagccctg cccgcttccg cgtgctgggc
     2341 actctctcca actcccgtga cttcctgcgg cacttcggct gccctgtcgg ctcccccatg
     2401 aacccagggc agctgtgtga ggtgtggtag acctggatca ggggagaaat ggccagctgt
     2461 caccagacct ggggcagctc tcctgacaaa gctgtttgct cttgggttgg gaggaagcaa
     2521 atgcaagctg ggctgggtct agtccctccc ccccacaggt gacatgagta cagaccctcc
     2581 tcaatcacca cattgtgcct ctgctttggg ggtgcccctg cctccagcag agcccccacc
     2641 attcactgtg acatctttcc gtgtcaccct gcctggaaga ggtctgggtg gggaggccag
     2701 ttcccatagg aaggagtctg cctcttctgt ccccaggctc actcagcctg gcggccatgg
     2761 ggcctgccgt gcctgcccca ctgtgaccca caggcctggg tggtgtacct cctggacttc
     2821 tccccaggct cactcagtgc gcacttaggg gtggactcag ctctgtctgg ctcaccctca
     2881 cgggctaccc ccacctcacc ctgtgctcct tgtgccactg ctcccagtgc tgctgctgac
     2941 cttcactgac agctcctagt ggaagcccaa gggcctctga aagcctcctg ctgcccactg
     3001 tttccctggg ctgagagggg aagtgcatat gtgtagcggg tactggttcc tgtgtcttag
     3061 ggcacaagcc ttagcaaatg attgattctc cctggacaaa gcaggaaagc agatagagca
     3121 gggaaaagga agaacagagt ttatttttac agaaaagagg gtgggagggt gtggtcttgg
     3181 cccttatagg accctgtgcc aataaacaga catgcatccg tca
//
