LOCUS       NM_052846               3791 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.
ACCESSION   NM_052846 XM_029741
VERSION     NM_052846.2
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 3791)
  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 3791)
  AUTHORS   Zeng,W.J., Yang,Y.L., Liu,Z.Z., Wen,Z.P., Chen,Y.H., Hu,X.L.,
            Cheng,Q., Xiao,J., Zhao,J. and Chen,X.P.
  TITLE     Integrative Analysis of DNA Methylation and Gene Expression
            Identify a Three-Gene Signature for Predicting Prognosis in
            Lower-Grade Gliomas
  JOURNAL   Cell Physiol Biochem 47 (1), 428-439 (2018)
   PUBMED   29794476
  REMARK    GeneRIF: This study identified and validated a three-gene (EMP3,
            GSX2 and EMILIN3) prognostic signature in Lower-Grade Gliomas.
REFERENCE   3  (bases 1 to 3791)
  AUTHORS   Naba,A., Clauser,K.R., Whittaker,C.A., Carr,S.A., Tanabe,K.K. and
            Hynes,R.O.
  TITLE     Extracellular matrix signatures of human primary metastatic colon
            cancers and their metastases to liver
  JOURNAL   BMC Cancer 14, 518 (2014)
   PUBMED   25037231
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3791)
  AUTHORS   Schiavinato,A., Becker,A.K., Zanetti,M., Corallo,D., Milanetto,M.,
            Bizzotto,D., Bressan,G., Guljelmovic,M., Paulsson,M., Wagener,R.,
            Braghetta,P. and Bonaldo,P.
  TITLE     EMILIN-3, peculiar member of elastin microfibril interface-located
            protein (EMILIN) family, has distinct expression pattern, forms
            oligomeric assemblies, and serves as transforming growth factor
            beta (TGF-beta) antagonist
  JOURNAL   J Biol Chem 287 (14), 11498-11515 (2012)
   PUBMED   22334695
  REMARK    GeneRIF: characterization of the expression and biochemical
            properties of EMILIN-3
REFERENCE   5  (bases 1 to 3791)
  AUTHORS   Barallobre-Barreiro,J., Didangelos,A., Schoendube,F.A., Drozdov,I.,
            Yin,X., Fernandez-Caggiano,M., Willeit,P., Puntmann,V.O.,
            Aldama-Lopez,G., Shah,A.M., Domenech,N. and Mayr,M.
  TITLE     Proteomics analysis of cardiac extracellular matrix remodeling in a
            porcine model of ischemia/reperfusion injury
  JOURNAL   Circulation 125 (6), 789-802 (2012)
   PUBMED   22261194
REFERENCE   6  (bases 1 to 3791)
  AUTHORS   Cao,J.
  TITLE     Preparation and characterization of a novel monoclonal antibody
            specific to human EMILIN-5 protein
  JOURNAL   Hybridoma (Larchmt) 26 (6), 417-421 (2007)
   PUBMED   18158787
  REMARK    GeneRIF: Might play important roles in carcinogenesis of esophageal
            cancer.
REFERENCE   7  (bases 1 to 3791)
  AUTHORS   Doi,M., Nagano,A. and Nakamura,Y.
  TITLE     Molecular cloning and characterization of a novel gene, EMILIN-5,
            and its possible involvement in skeletal development
  JOURNAL   Biochem Biophys Res Commun 313 (4), 888-893 (2004)
   PUBMED   14706625
  REMARK    GeneRIF: EMILIN-5 gene plays an important role in skeletal
            development(EMILIN-5)
REFERENCE   8  (bases 1 to 3791)
  AUTHORS   Leimeister,C., Steidl,C., Schumacher,N., Erhard,S. and Gessler,M.
  TITLE     Developmental expression and biochemical characterization of Emu
            family members
  JOURNAL   Dev Biol 249 (2), 204-218 (2002)
   PUBMED   12221002
REFERENCE   9  (bases 1 to 3791)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB089149.1 and AL031667.21.
            
            On Nov 22, 2018 this sequence version replaced NM_052846.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB089149.1, BC101043.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332312.4/ ENSP00000332806.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3787              AB089149.1         41-3827
            3788-3791           AL031667.21        2326-2329           c
FEATURES             Location/Qualifiers
     source          1..3791
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q12"
     gene            1..3791
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /note="elastin microfibril interfacer 3"
                     /db_xref="GeneID:90187"
                     /db_xref="HGNC:HGNC:16123"
                     /db_xref="MIM:608929"
     exon            1..351
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..2485
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /note="elastin microfibril interfacer 5; EMILIN-3;
                     EMILIN-5; elastin microfibril interface-located protein 3;
                     elastin microfibril interface-located protein 5"
                     /codon_start=1
                     /product="EMILIN-3 precursor"
                     /protein_id="NP_443078.1"
                     /db_xref="CCDS:CCDS13316.1"
                     /db_xref="GeneID:90187"
                     /db_xref="HGNC:HGNC:16123"
                     /db_xref="MIM:608929"
                     /translation="MGRRRLLVWLCAVAALLSGAQARGTPLLARPAPPGASRYSLYTT
                     GWRPRLRPGPHKALCAYVVHRNVTCILQEGAESYVKAEYRQCRWGPKCPGTVTYRTVL
                     RPKYKVGYKTVTDLAWRCCPGFTGKRCPEHLTDHGAASPQLEPEPQIPSGQLDPGPRP
                     PSYSRAAPSPHGRKGPGLFGERLERLEGDVQRLAQTYGTLSGLVASHEDPNRMTGGPR
                     APAVPVGFGVIPEGLVGPGDRARGPLTPPLDEILSKVTEVSNTLQTKVQLLDKVHGLA
                     LGHEAHLQRLREAPPSPLTSLALLEEYVDRRLHRLWGSLLDGFEQKLQGVQSECDLRV
                     QEVRRQCEEGQAASRRLHQSLDGRELALRQELSQLGSQLQGLSVSGRGSCCGQLALIN
                     ARMDGLERALQAVTETQRGPGAPAGDELTRLSAAMLEGGVDGLLEGLETLNGTEGGAR
                     GCCLRLDMGGWGVGGFGTMLEERVQSLEERLATLAGELSHDSASPGRSARPLVQTELA
                     VLEQRLVSLETSCTPSTTSAILDSLVAEVKAWQSRSEALLRQVASHAALLQQLNGTVA
                     EVQGQLAEGTGSSLQGEITLLKVNLNSVSKSLTGLSDSVSQYSDAFLAANTSLDERER
                     KVEAEVQAIQEQVSSQGSRLQAGHRQVLNLRGELEQLKAGVAKVASGLSRCQDTAQKL
                     QHTVGHFDQRVAQVEGACRRLGLLAAGLDSLPTEPLRPREGLWSHVDQLNRTLAQHTQ
                     DIARLRDDLLDCQAQLAEQVRPGQAN"
     exon            352..474
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /inference="alignment:Splign:2.1.0"
     exon            475..698
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /inference="alignment:Splign:2.1.0"
     exon            699..3791
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3768..3773
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /note="hexamer: ATTAAA"
     polyA_site      3791
                     /gene="EMILIN3"
                     /gene_synonym="C20orf130; dJ620E11.4; EMILIN5"
                     /note="major polyA site"
ORIGIN      
        1 actccgcggg acgcagccgc cgcgaagcgc caggcggccg ggccagcgag ctcgggggcc
       61 gaaggggacc ccgggaccct cggggcggga cccgggccga ccagcggcgg gggcggcgcg
      121 gcgctgcagg cggacacccg gcggggggca ccgcgcgggg ccgggcagag gcgcgggggc
      181 cgctatgggc cgccgccgcc tgctcgtctg gctgtgcgcc gtcgcggcgc tgctctcggg
      241 ggcgcaggcc aggggcaccc cgctcctggc gcggcctgcg ccgcccggtg cctcccgcta
      301 cagtctctac acgacgggat ggcgcccgcg gctgcgcccg gggccgcaca aggccctctg
      361 tgcctatgtg gtgcacagga atgtgacctg catcctacag gagggagcgg agagctacgt
      421 aaaggctgaa taccggcagt gtagatgggg gcccaagtgc cccgggacag tcacgtaccg
      481 cacagtactc agacccaaat acaaggttgg ctacaagaca gtgacagacc tcgcctggcg
      541 ttgctgtccc ggcttcactg ggaaacgctg ccctgagcac ctcacggacc atggggctgc
      601 ctcaccccag ctggagcctg agcctcagat tccttcaggg cagctggacc caggccccag
      661 gcccccttcc tacagcagag cagcccccag ccctcatgga aggaaaggcc cagggctgtt
      721 tggtgagcgg ctggaacgcc tggagggtga tgtccagcgc ctggctcaaa catatggtac
      781 cctcagtggc ctggtggcta gccacgagga tcccaacagg atgactggtg gccccagggc
      841 tcctgctgtc cctgtgggct ttggggtcat ccctgagggg cttgtgggcc caggagacag
      901 agccagaggg ccactaacac ctcccttaga cgagatccta agcaaggtga cagaggtgag
      961 caacactctt cagaccaagg tgcagcttct agacaaggtg catgggctgg cacttggcca
     1021 tgaggcccac ctgcagcggc tgcgggaagc cccaccatcc ccgctcacct ccctggccct
     1081 gctggaggag tacgtggacc gacggctgca ccgactctgg gggagcctgc tggatggctt
     1141 tgagcagaag ctgcaaggcg tccagagtga gtgtgacctg cgggtgcagg aggtacggcg
     1201 gcaatgtgag gagggtcagg ccgccagccg gaggctgcac cagagccttg atggccggga
     1261 gctggccctg cgccaggagc tgtcacagct gggcagccag ctgcagggcc tgagcgtgtc
     1321 tggcaggggc agctgctgtg ggcaactagc cttgatcaat gcccgtatgg atggccttga
     1381 gagggccctg caggcagtca ccgagaccca aaggggcccc ggtgccccgg ccggggatga
     1441 gcttacgagg ctctctgctg ccatgctcga gggaggtgtg gacgggctgc ttgagggtct
     1501 ggagacgctc aatgggacag agggtggagc aaggggatgc tgtctgaggt tggacatggg
     1561 ggggtgggga gtgggcggct ttgggaccat gctggaagag cgcgtgcaga gcctcgagga
     1621 gcgcctagca acattggctg gggagctaag ccatgacagc gcctctccgg gcaggtcagc
     1681 tcggcccctt gtacagacag agctggctgt gctagagcaa cggttggtct cactggagac
     1741 ttcgtgcacc ccgagcacca cctcagccat cctggacagc ctcgtggcag aggtgaaggc
     1801 ctggcagagc cggagcgagg ccctcctacg ccaggtggcc agccacgcag cactgctcca
     1861 gcagctcaat ggcactgtgg ccgaggtcca gggacagctg gcagaaggga cgggcagctc
     1921 acttcaaggc gagatcactc tgctcaaggt caatctgaac tcagtgagca agtcgctcac
     1981 aggcctcagt gactctgtca gccagtactc tgatgccttc ttggctgcca acacgtccct
     2041 ggatgagcgg gaacgcaagg tggaagccga agtccaggcc atccaggagc aggtcagcag
     2101 ccaaggctcc aggcttcagg ctggccacag gcaggtcctg aacctgcgtg gggagctgga
     2161 gcaactcaag gctggtgtgg ccaaggtggc cagtgggctg agccgctgcc aggacacagc
     2221 ccagaaactt cagcacacag tgggacactt tgaccagcgg gtggcacaag tggagggtgc
     2281 gtgcaggagg ctgggcctgc tggccgcggg cctggacagc ttgcccactg agccactgag
     2341 gcccagagag ggcctgtgga gccatgtgga ccagctgaat cgtacgctgg cccagcacac
     2401 gcaggacatt gcccgcctcc gggatgacct actggactgc caggcccagc tggctgagca
     2461 ggtgcggcca gggcaagcca actagacagg ctggccagga cccaacccct agatcccacc
     2521 aactcgggga acatcacccc agagcccagc cttatccagc agcgccttcc agccttccct
     2581 ggctagccca aatggcacta aggaggccac tgagggaatc ctccacgtgg ctgtcccagc
     2641 caccaaaacc catgcacagt gctgcagaaa ctggacagtt ccggacagcg gtcaaggcaa
     2701 ggatgtcatg cttgaaggcc agggtagact tgagagagtt cacattccac tgtcagcaaa
     2761 tcagtgtctg gacagccagc tgcagggcct gagcatggct ggcaggggca gctgctgtgg
     2821 caaactggcc ttgatcagtg tccgtatgta aggccttgag aggaccctgc aggcagtcag
     2881 caccagcctc agcaactgtg cagagaccta caggcccaca gccagtggcc tgtccgcatt
     2941 gccctgtgcc cacaagcaac agtccacagc ccttggtggc ttctgttcct tgtcccctcg
     3001 gcttctcttc gcagccatca ggactaggtt tgtgcaggaa ggtgatgccc actggaactc
     3061 tcctcacacc tggcagcttc atggatgttg tatctgaact aaggaccaga ggctgccaga
     3121 tgtttctggc tcctcacgtg tccttcagga cagaacagaa gcacaaagac tcagccaaga
     3181 gttctcttta ttccctttga tcctccccca aggtgagggc ttaggcagct gtagaacccc
     3241 aggaaagaac ggaatccagg caatctgttt agagaccccc cactccaaat ttatcctttt
     3301 cctttccttc ccctaagatg tttccagggc cctctggtgc ccacactgtc ctcttccttc
     3361 cacttggggg tggggaaatc cttcctgcga ggtcagggca tttctctaca aagtggcctg
     3421 aatgaggcca ggccctgaga aggagccacc agctggagga aaggggctcc aagccttgct
     3481 tttaacaccc ctgcaaaacc cccaccctcc caagatgttc acaaaaggtg agaaattcag
     3541 gtacgaaacc atcaatggac aacttgaaaa tgcatgttcc tcaggcctat gcagttccca
     3601 gagactcttg acaccggtct ctgctgaggc tcccagcctc agtttccccc acagcagcac
     3661 gggccccact gtgctgctct tcaggtcccc acagccctgc ctttggttcc tggacatttg
     3721 gtattctgcc ctccactctg gtactatcag agtagggcag gctctggatt aaagctttta
     3781 gccggtctaa a
//
