LOCUS       NM_133918               3466 bp    mRNA    linear   ROD 09-OCT-2024
DEFINITION  Mus musculus elastin microfibril interfacer 1 (Emilin1), mRNA.
ACCESSION   NM_133918
VERSION     NM_133918.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3466)
  AUTHORS   Capuano,A., Vescovo,M., Canesi,S., Pivetta,E., Doliana,R.,
            Nadin,M.G., Yamamoto,M., Tsukamoto,T., Nomura,S., Pilozzi,E.,
            Palumbo,A., Canzonieri,V., Cannizzaro,R., Scanziani,E.,
            Baldassarre,G., Mongiat,M. and Spessotto,P.
  TITLE     The extracellular matrix protein EMILIN-1 impacts on the
            microenvironment by hampering gastric cancer development and
            progression
  JOURNAL   Gastric Cancer 27 (5), 1016-1030 (2024)
   PUBMED   38941035
  REMARK    GeneRIF: The extracellular matrix protein EMILIN-1 impacts on the
            microenvironment by hampering gastric cancer development and
            progression.
REFERENCE   2  (bases 1 to 3466)
  AUTHORS   Jacobson,K.R., Saleh,A.M., Lipp,S.N., Tian,C., Watson,A.R.,
            Luetkemeyer,C.M., Ocken,A.R., Spencer,S.L., Kinzer-Ursem,T.L. and
            Calve,S.
  TITLE     Extracellular matrix protein composition dynamically changes during
            murine forelimb development
  JOURNAL   iScience 27 (2), 108838 (2024)
   PUBMED   38303699
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3466)
  AUTHORS   Queen,R., Crosier,M., Eley,L., Kerwin,J., Turner,J.E., Yu,J.,
            Alqahtani,A., Dhanaseelan,T., Overman,L., Soetjoadi,H., Baldock,R.,
            Coxhead,J., Boczonadi,V., Laude,A., Cockell,S.J., Kane,M.A.,
            Lisgo,S. and Henderson,D.J.
  TITLE     Spatial transcriptomics reveals novel genes during the remodelling
            of the embryonic human arterial valves
  JOURNAL   PLoS Genet 19 (11), e1010777 (2023)
   PUBMED   38011284
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3466)
  AUTHORS   Lipp,S.N., Jacobson,K.R., Colling,H.A., Tuttle,T.G., Miles,D.T.,
            McCreery,K.P. and Calve,S.
  TITLE     Mechanical loading is required for initiation of extracellular
            matrix deposition at the developing murine myotendinous junction
  JOURNAL   Matrix Biol 116, 28-48 (2023)
   PUBMED   36709857
REFERENCE   5  (bases 1 to 3466)
  AUTHORS   Adamo,C.S., Beyens,A., Schiavinato,A., Keene,D.R., Tufa,S.F.,
            Morgelin,M., Brinckmann,J., Sasaki,T., Niehoff,A., Dreiner,M.,
            Pottie,L., Muino-Mosquera,L., Gulec,E.Y., Gezdirici,A.,
            Braghetta,P., Bonaldo,P., Wagener,R., Paulsson,M., Bornaun,H., De
            Rycke,R., De Bruyne,M., Baeke,F., Devine,W.P., Gangaram,B., Tam,A.,
            Balasubramanian,M., Ellard,S., Moore,S., Symoens,S., Shen,J.,
            Cole,S., Schwarze,U., Holmes,K.W., Hayflick,S.J., Wiszniewski,W.,
            Nampoothiri,S., Davis,E.C., Sakai,L.Y., Sengle,G. and Callewaert,B.
  TITLE     EMILIN1 deficiency causes arterial tortuosity with osteopenia and
            connects impaired elastogenesis with defective collagen
            fibrillogenesis
  JOURNAL   Am J Hum Genet 109 (12), 2230-2252 (2022)
   PUBMED   36351433
  REMARK    GeneRIF: EMILIN1 deficiency causes arterial tortuosity with
            osteopenia and connects impaired elastogenesis with defective
            collagen fibrillogenesis.
REFERENCE   6  (bases 1 to 3466)
  AUTHORS   Fabbro,C., de Gemmis,P., Braghetta,P., Colombatti,A., Volpin,D.,
            Bonaldo,P. and Bressan,G.M.
  TITLE     Analysis of regulatory regions of Emilin1 gene and their
            combinatorial contribution to tissue-specific transcription
  JOURNAL   J Biol Chem 280 (16), 15749-15760 (2005)
   PUBMED   15705587
  REMARK    GeneRIF: transcription in different tissues is achieved through
            combinatorial cooperation between various regions
REFERENCE   7  (bases 1 to 3466)
  AUTHORS   Braghetta,P., Ferrari,A., De Gemmis,P., Zanetti,M., Volpin,D.,
            Bonaldo,P. and Bressan,G.M.
  TITLE     Overlapping, complementary and site-specific expression pattern of
            genes of the EMILIN/Multimerin family
  JOURNAL   Matrix Biol 22 (7), 549-556 (2004)
   PUBMED   14996434
REFERENCE   8  (bases 1 to 3466)
  AUTHORS   Zanetti,M., Braghetta,P., Sabatelli,P., Mura,I., Doliana,R.,
            Colombatti,A., Volpin,D., Bonaldo,P. and Bressan,G.M.
  TITLE     EMILIN-1 deficiency induces elastogenesis and vascular cell defects
  JOURNAL   Mol Cell Biol 24 (2), 638-650 (2004)
   PUBMED   14701737
  REMARK    GeneRIF: may regulate elastogenesis and vascular cell maintenance
            by stabilizing molecular interactions between elastic fiber
            components and by endowing elastic fibers with specific cell
            adhesion properties
REFERENCE   9  (bases 1 to 3466)
  AUTHORS   Braghetta,P., Ferrari,A., de Gemmis,P., Zanetti,M., Volpin,D.,
            Bonaldo,P. and Bressan,G.M.
  TITLE     Expression of the EMILIN-1 gene during mouse development
  JOURNAL   Matrix Biol 21 (7), 603-609 (2002)
   PUBMED   12475644
REFERENCE   10 (bases 1 to 3466)
  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
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AC109606.11.
            
            On Nov 17, 2006 this sequence version replaced NM_133918.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC005481.1, AK029337.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-259               AC109606.11        137604-137862
            260-385             AC109606.11        138800-138925
            386-606             AC109606.11        139335-139555
            607-2532            AC109606.11        140752-142677
            2533-2649           AC109606.11        143074-143190
            2650-2667           AC109606.11        143749-143766
            2668-2805           AC109606.11        143898-144035
            2806-3466           AC109606.11        144433-145093
FEATURES             Location/Qualifiers
     source          1..3466
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 16.9 cM"
     gene            1..3466
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /note="elastin microfibril interfacer 1"
                     /db_xref="GeneID:100952"
                     /db_xref="MGI:MGI:1926189"
     exon            1..259
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..3143
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /note="elastin microfibril interface located protein 1"
                     /codon_start=1
                     /product="EMILIN-1 precursor"
                     /protein_id="NP_598679.1"
                     /db_xref="CCDS:CCDS19167.1"
                     /db_xref="GeneID:100952"
                     /db_xref="MGI:MGI:1926189"
                     /translation="MAPRALWSCYLCCLLTIATEAASYPPRGYSLYTGGTGALSPGGP
                     QAQNSPRPASRHRNWCAYVVTRTVSCVLEDGVETIVKPDYQPCGWGQPHCSRSIMYRS
                     FLRPRYRVAYKTVTDMEWRCCQGYGGDDCGEGPASVLGPAPSTPLPRPRPVRPNLSGS
                     SAGSHLSGLGGEGPVESEKVQQLERQVKSLTKELQGLRGVLQGMNGRLAEDVQRAVDT
                     VFNGRQQPADAAARPGVHETLSEIQQQLQLLDNRVSTHDQELGHLNNHHNGGPGGGGR
                     ASGPVPVPSGPSEELLRQLERQLQESCSVCLTGLDGFRQQQQEDRERLRTLEKLMSSM
                     EERQQQLVGPAMARRPPQECCPPELGRRVSELERRLDVVTGSLTVLSGRRGSELGGAA
                     GQGGHPPGYTSLASRLSRLEDRFNSTLGPSEEQEKNWPGGPGRLGHWLPAAPGRLEKL
                     EGLLANVSRELGGRMDLLEEQVAGAVRTCGQICSGAPGEQDSRVNEILSALERRVLDS
                     EGRLQLVGSGLHEAEAAGEAQQAVLEGLQGLLSRLRERMDAQEETAAEILLRLNLTAA
                     QLSQLEGLLQARGDEGCGACGGVQEELGRLRDGVERCSCPLLPPRGPGAGPGVGGPSR
                     GPLDGFSVFGGSSGSALQALQGELSEVILTFSSLNDSLHELQTTVEGQGADLADLGAT
                     KDSIISEINRLQQEATEHVTESEERFRGLEEGQAQAGQCPSLEGRLGRLEGVCERLDT
                     VAGGLQGLREGLSRHVAGLWAAVRESNSTSLTQAALLEKLLGGQAGLGRRLGALNNSL
                     LLLEDRLQQLSLKDFTGPSGKAGPPGPPGLQGPSGPAGPPGPPGKDGQQGAIGPPGPQ
                     GEQGAEGAPAAPVPRVAFSAALSLPRSEPGTVPFDRVLLNDGGYYDPETGVFTAPLAG
                     RYLLSAVLTGHRHEKVEAVLSRSNLGVARIDSGGYEPEGLENKPVAESQPSPGALGVF
                     SLILPLQVGDTVCIDLVMGQLAHSEEPLTIFSGALLYEDTELEQV"
     exon            260..385
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     exon            386..606
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     exon            607..2532
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     exon            2533..2649
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     exon            2650..2667
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     exon            2668..2805
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     exon            2806..3466
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3437..3442
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /note="hexamer: AATAAA"
     polyA_site      3466
                     /gene="Emilin1"
                     /gene_synonym="5830419M17Rik; EMILIN-1; gp115"
                     /note="major polyA site"
ORIGIN      
        1 ctgaagcagc ggcatcccct ggaagtgcgg tataggcatt attggtcaga ccaagatgtg
       61 cctctaaggg cagcaaggaa catttcacca tggcccccag agccctctgg agctgctatc
      121 tctgctgtct gctgaccata gccacggaag ctgccagcta ccctcctcga ggttacagcc
      181 tctacacagg aggcactggg gccctgagtc ctgggggacc ccaggcccag aactcaccac
      241 ggcctgccag ccgccacagg aactggtgtg cctacgtggt gactcggaca gtgagctgcg
      301 tccttgagga tggagtggag accattgtca agccagacta tcaaccctgt ggctggggcc
      361 agccccactg ttcccgaagt atcatgtacc ggagctttct tcgccctcgc tatcgggtgg
      421 cttacaagac agtgacagac atggagtgga ggtgctgtca gggttatggg ggcgatgact
      481 gtggagaggg ccctgcttcc gttctgggcc cagcaccctc cacaccactt ccccggccca
      541 ggcctgtgcg ccccaacctg tctggctcca gtgccggcag ccatctcagt ggactgggag
      601 gagaaggtcc tgttgagtca gagaaggtgc agcagctaga gcggcaggtg aagagtctga
      661 ccaaagagct gcaaggcctt cggggtgtcc tgcaggggat gaatgggcgc ctagcagaag
      721 atgtacagcg agctgtggac acagtcttta atggaaggca gcagccagca gatgcagctg
      781 cccgcccggg cgtgcatgaa accctcagtg agatccagca gcagctgcag ctcctggaca
      841 accgtgtctc cactcatgac caggagctgg gccaccttaa caaccatcat aatggaggcc
      901 ctggtggagg tggcagggcc tcaggccctg tcccagttcc ttctggcccc agtgaagaac
      961 tgttaaggca gctggaacgg cagctgcaag agtcttgctc agtgtgcctg acggggctgg
     1021 atggcttccg ccagcagcag caagaggata gggagcggct gcgaaccctg gagaagctaa
     1081 tgtcctctat ggaggagcgg cagcaacagc ttgtgggacc tgccatggcc aggagacccc
     1141 ctcaggaatg ctgcccccca gagctgggtc gacgagtgtc tgagctggag cggaggctag
     1201 atgtagtgac tggctcactg acagtgctaa gtggacgcag aggttctgag cttggaggag
     1261 cagctgggca ggggggccac cctccaggct acaccagctt ggcctcccgc ctttctcgcc
     1321 tggaggaccg cttcaactct accctaggtc cctcagagga gcaagagaag aactggcctg
     1381 gaggaccagg gaggctgggc cactggttgc ctgctgctcc aggacggcta gaaaagctgg
     1441 agggactact agccaatgtg agcagggagc tgggtggccg catggatctg ctggaagagc
     1501 aggtggcagg ggctgttcgg acttgtgggc agatttgctc tggggcaccc ggggaacagg
     1561 attctcgggt caatgagatc ctcagtgcct tggaacgcag ggtgctggac agcgagggcc
     1621 ggttacagct agtgggctct ggcttgcatg aagcagaggc agcaggggag gctcagcagg
     1681 ccgtgttgga gggactgcaa gggctcctga gccggcttcg ggagcgcatg gatgcacagg
     1741 aggagactgc agcagaaatc ttactgcgcc tcaatcttac cgcagcccag ctaagccagc
     1801 tggagggtct gctgcaagcc cgtggggatg agggttgtgg cgcctgtggt ggtgtccagg
     1861 aggagctggg ccgccttcgg gatggtgtgg aacgttgctc ctgcccattg ttacctccac
     1921 ggggccctgg agctggccca ggggttgggg gaccaagccg tgggcctctg gatggtttca
     1981 gtgtgtttgg gggcagttca ggctcagccc tccaggccct tcaaggagaa ctctctgagg
     2041 ttattctcac cttcagctcc ctgaacgact cactccacga gctccagacc actgtggagg
     2101 gtcagggtgc cgatctggct gacctggggg ccaccaagga cagcatcatc tctgaaatca
     2161 acagactaca gcaggaggcc acggagcacg tcacagagag cgaggagcgc ttccgaggcc
     2221 tggaggaggg ccaggcacag gctggccaat gccctagctt agaggggcga ttaggccgcc
     2281 ttgagggagt ctgcgaacga ctggacaccg tggcaggggg actacaaggc ctacgtgaag
     2341 gcctctccag acacgtggct gggctctggg ctgcagtacg ggaaagcaac agcaccagcc
     2401 tgacacaggc cgccctgctg gagaagctgc tggggggcca ggcaggcctg ggcaggcggc
     2461 ttggtgccct caacaattcc ctgctgctcc tggaagaccg tctgcagcaa cttagcctaa
     2521 aggacttcac tggaccttca ggcaaggctg ggcccccagg gcctcccggg ctacaagggc
     2581 cttcaggccc tgcaggacct ccaggacctc ctggcaaaga cggacaacag ggggccattg
     2641 gcccaccagg tcctcaaggg gagcagggag cggagggagc accagcagcc cctgtgccta
     2701 gggtagcatt ttcagctgcc ctgagtttgc cacggtcaga acctggcaca gtccccttcg
     2761 acagagtctt gctcaatgat ggaggctact atgacccaga gacaggtgta ttcactgcac
     2821 cactggctgg acgctatttg ctgagcgctg tacttactgg gcaccggcat gagaaagtgg
     2881 aagcagtatt gtcacgctcc aacctgggcg tggcccgcat agactcggga ggctatgaac
     2941 ccgagggact ggagaataag cctgtggccg aaagtcagcc cagcccaggc gctctgggcg
     3001 tcttcagcct cattctgcca ctgcaggtcg gagacactgt ctgcatcgac ctggtcatgg
     3061 ggcagctggc acactccgag gagccgctca ccatcttcag cggagccctg ctctacgagg
     3121 acacagagct tgaacaggtg tagacagggt ggacccgacc accaaactta tctacagggg
     3181 ccgcagagcc acctggatgg tggctaccca ccaaggcaag ggcaagtctg gcgaccacgt
     3241 cccgctgcgg ttcaggcatc caaatcggtc actccgtacg ttgtgactgc gtggtctatg
     3301 ggaccgaggc atctcctctt gacctttggc ctcattgccg tccccaccag agccctctcc
     3361 gggacccaag ctgcggaaga ggaacctacc ctccagggct ctccccagtc cacaccaccg
     3421 tactaaacta ttcaggaata aagacacttt ttttttttct acaaaa
//
