LOCUS       NM_001399395            3830 bp    mRNA    linear   ROD 30-MAR-2024
DEFINITION  Rattus norvegicus elastin microfibril interfacer 1 (Emilin1),
            transcript variant 1, mRNA.
ACCESSION   NM_001399395 XM_006239793
VERSION     NM_001399395.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3830)
  AUTHORS   Zimmer,J., Takahashi,T., Hofmann,A.D. and Puri,P.
  TITLE     Downregulated Elastin Microfibril Interfacer 1 Expression in the
            Pulmonary Vasculature of Experimental Congenital Diaphragmatic
            Hernia
  JOURNAL   Eur J Pediatr Surg 28 (1), 115-119 (2018)
   PUBMED   28701001
  REMARK    GeneRIF: This study demonstrates for the first time a decreased
            Emilin-1 gene and protein expression in the pulmonary vasculature
            of nitrofen-induced congenital diaphragmatic hernia. Emilin-1
            deficiency through its interaction with TGFss may result in
            abnormal vascular remodeling resulting in pulmonary hypertension in
            this model.
REFERENCE   2  (bases 1 to 3830)
  AUTHORS   Barallobre-Barreiro,J., Oklu,R., Lynch,M., Fava,M., Baig,F.,
            Yin,X., Barwari,T., Potier,D.N., Albadawi,H., Jahangiri,M.,
            Porter,K.E., Watkins,M.T., Misra,S., Stoughton,J. and Mayr,M.
  TITLE     Extracellular matrix remodelling in response to venous
            hypertension: proteomics of human varicose veins
  JOURNAL   Cardiovasc Res 110 (3), 419-430 (2016)
   PUBMED   27068509
REFERENCE   3  (bases 1 to 3830)
  AUTHORS   Capuano,A., Bucciotti,F., Farwell,K.D., Tippin Davis,B., Mroske,C.,
            Hulick,P.J., Weissman,S.M., Gao,Q., Spessotto,P., Colombatti,A. and
            Doliana,R.
  TITLE     Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1,
            Associated with Autosomal-Dominant Hereditary Connective Tissue
            Disease
  JOURNAL   Hum Mutat 37 (1), 84-97 (2016)
   PUBMED   26462740
REFERENCE   4  (bases 1 to 3830)
  AUTHORS   Munjal,C., Opoka,A.M., Osinska,H., James,J.F., Bressan,G.M. and
            Hinton,R.B.
  TITLE     TGF-beta mediates early angiogenesis and latent fibrosis in an
            Emilin1-deficient mouse model of aortic valve disease
  JOURNAL   Dis Model Mech 7 (8), 987-996 (2014)
   PUBMED   25056700
REFERENCE   5  (bases 1 to 3830)
  AUTHORS   Abonnenc,M., Nabeebaccus,A.A., Mayr,U., Barallobre-Barreiro,J.,
            Dong,X., Cuello,F., Sur,S., Drozdov,I., Langley,S.R., Lu,R.,
            Stathopoulou,K., Didangelos,A., Yin,X., Zimmermann,W.H., Shah,A.M.,
            Zampetaki,A. and Mayr,M.
  TITLE     Extracellular matrix secretion by cardiac fibroblasts: role of
            microRNA-29b and microRNA-30c
  JOURNAL   Circ Res 113 (10), 1138-1147 (2013)
   PUBMED   24006456
REFERENCE   6  (bases 1 to 3830)
  AUTHORS   Manabe,R., Tsutsui,K., Yamada,T., Kimura,M., Nakano,I., Shimono,C.,
            Sanzen,N., Furutani,Y., Fukuda,T., Oguri,Y., Shimamoto,K.,
            Kiyozumi,D., Sato,Y., Sado,Y., Senoo,H., Yamashina,S., Fukuda,S.,
            Kawai,J., Sugiura,N., Kimata,K., Hayashizaki,Y. and Sekiguchi,K.
  TITLE     Transcriptome-based systematic identification of extracellular
            matrix proteins
  JOURNAL   Proc Natl Acad Sci U S A 105 (35), 12849-12854 (2008)
   PUBMED   18757743
REFERENCE   7  (bases 1 to 3830)
  AUTHORS   Verdone,G., Doliana,R., Corazza,A., Colebrooke,S.A., Spessotto,P.,
            Bot,S., Bucciotti,F., Capuano,A., Silvestri,A., Viglino,P.,
            Campbell,I.D., Colombatti,A. and Esposito,G.
  TITLE     The solution structure of EMILIN1 globular C1q domain reveals a
            disordered insertion necessary for interaction with the alpha4beta1
            integrin
  JOURNAL   J Biol Chem 283 (27), 18947-18956 (2008)
   PUBMED   18463100
REFERENCE   8  (bases 1 to 3830)
  AUTHORS   Zacchigna,L., Vecchione,C., Notte,A., Cordenonsi,M., Dupont,S.,
            Maretto,S., Cifelli,G., Ferrari,A., Maffei,A., Fabbro,C.,
            Braghetta,P., Marino,G., Selvetella,G., Aretini,A., Colonnese,C.,
            Bettarini,U., Russo,G., Soligo,S., Adorno,M., Bonaldo,P.,
            Volpin,D., Piccolo,S., Lembo,G. and Bressan,G.M.
  TITLE     Emilin1 links TGF-beta maturation to blood pressure homeostasis
  JOURNAL   Cell 124 (5), 929-942 (2006)
   PUBMED   16530041
REFERENCE   9  (bases 1 to 3830)
  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
REFERENCE   10 (bases 1 to 3830)
  AUTHORS   Mongiat,M., Mungiguerra,G., Bot,S., Mucignat,M.T., Giacomello,E.,
            Doliana,R. and Colombatti,A.
  TITLE     Self-assembly and supramolecular organization of EMILIN
  JOURNAL   J Biol Chem 275 (33), 25471-25480 (2000)
   PUBMED   10821830
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000006.1.
            
            On Jan 7, 2022 this sequence version replaced XM_006239793.4.
            
            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 :: SRR26643297.21769.1,
                                           SRR26643291.17434.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760383,
                                           SAMEA5760389 [ECO:0006172]
            ##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
            1-627               JAXUCZ010000006.1  31183031-31183657   c
            628-753             JAXUCZ010000006.1  31181954-31182079   c
            754-974             JAXUCZ010000006.1  31181274-31181494   c
            975-2900            JAXUCZ010000006.1  31178160-31180085   c
            2901-3017           JAXUCZ010000006.1  31177644-31177760   c
            3018-3035           JAXUCZ010000006.1  31177247-31177264   c
            3036-3173           JAXUCZ010000006.1  31176981-31177118   c
            3174-3830           JAXUCZ010000006.1  31175919-31176575   c
FEATURES             Location/Qualifiers
     source          1..3830
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="6"
                     /map="6q14"
     gene            1..3830
                     /gene="Emilin1"
                     /note="elastin microfibril interfacer 1"
                     /db_xref="GeneID:298845"
                     /db_xref="RGD:1311209"
     exon            1..627
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     CDS             458..3511
                     /gene="Emilin1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; EMILIN-1"
                     /codon_start=1
                     /product="EMILIN-1 isoform 1 precursor"
                     /protein_id="NP_001386324.1"
                     /db_xref="GeneID:298845"
                     /db_xref="RGD:1311209"
                     /translation="MAPRILWSCYLCCLLTIATEAASYPPRGYSLYTGGSGALSPGGP
                     QAQNSPRPASRHRNWCAYVVTRTVSCVLEDGVETFVKPDYQPCGWGQPQCPRSIMYRS
                     FLRPRYRVAYKTVTDMEWRCCQGYGGDDCGEGPASVLGPAPSTPLPRPRPARPNLSGS
                     SAGSHLSGLGGEGPGETEKVQQLEQQVKSLTKELQGLRGVLQGMNGRLAEDVQRAVEA
                     AFNGRQQPADAAARPGVHETLNEIQQQLQLLDNRVSTHDQELGHLNNHHNGGPGGSGR
                     ASAPVPVPSGPSEELLRQLERQLQESCSVCLAGLDGFRQQQQEDRERLRTLEKLMSSM
                     EERQQQLMGPAMARRPPQECCPPELGRRVSELERRLDVVAGSVTVLSGRRGSELGGAA
                     GQGGHPPGYTSLASRLSHLEDRFNSTLGPSEEQEKNWPGGPGRLGQWLPAAPGQLEKL
                     EVLLANVSRELGGRLDLLEEQVAGAVRACGQICSEGPGEQDSRVSEILSALERRVLDS
                     EGQLRLVGSGLHKAETAGEAQQAMLEGLQGILGRLQERMDTQEETAAELSLRLNLTAA
                     QLSQLEGLLQARGDEGCGACGGVQEELGRLRDGVERCSCPLLPPRGPGAGPGVGGPSR
                     GPLDGFSVFGGGSGSALQALQGELSEVILTFSSLNDSLHELQTTVEGQGADLADLGAT
                     KDSIISEINRLQQEATEHITEIEERFRGLEEGQAQAGQCPSLEGRLGRLEGVCERLDT
                     VAGGLQGLREGLSRHVAGLWAAVRESNSTSLTQAALLEKLLGGQAGLGRRLGALNSSL
                     LLLEDRLQQLSLKDFTGPSGKAGPPGPPGLQGPPGPAGPPGPPGKDGQRGAIGPPGPQ
                     GEQGVEGAPAAPVPRVAFSAALSLPRSEPGTVPFDRVLLNDGGYYDPETGVFTAPLAG
                     RYLLSAVLTGHRHEKVEAVLSRSNLGVARIDSGGYEPEGLENKPVAESQPSPGALGVF
                     SLILPLQVGDTVCIDLVMGQLAHSEEPLTIFSGALLYEDTDLEQV"
     exon            628..753
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     exon            754..974
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     exon            975..2900
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     exon            2901..3017
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     exon            3018..3035
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     exon            3036..3173
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
     exon            3174..3830
                     /gene="Emilin1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcaccatagt cactcttgtg cctctcaaca gccacagggg caaagctctg tcatctttag
       61 gatccagtca ccagggaaca aaacagggag accagaagag ggccagctgg agccaggggg
      121 tggaggctca ggaagcagtt tctgaaaggg gcagggacca ggcacaggag gccaggggcc
      181 cggagaacag actcccctca gaagtgcaga agaggagagc ggaaggaact gagggaggga
      241 cagacaggag cctgaggagg aaagaggagg gggaaagagg ggtcaggccc agcagccaag
      301 gaggaggcgt gcagctgggg gctgcaggca ggaagctagg gacagagctg gctcagcgtg
      361 ctgtcccctg aagcagcggc atcccctgga agcacgggta caggcatcat tggtcagacc
      421 aagatgtgtc tctaagggta gcaaggaaca cctcaccatg gcccccagaa tcctctggag
      481 ctgctatctc tgctgtctgc tgaccattgc cacagaagct gccagctacc ctcctcgggg
      541 ctacagcctg tacacagggg gcagtggggc cctcagtcct gggggacccc aggcccagaa
      601 ctcaccccgg cctgccagcc gccacaggaa ctggtgtgcc tacgtggtga ctcggacagt
      661 gagctgcgtc cttgaggatg gagtggagac ctttgtcaag ccagactatc aaccctgtgg
      721 ctggggccag ccccagtgtc ctcgaagtat catgtaccgc agcttccttc gccctcgcta
      781 ccgggtggcc tacaagacgg tgacagacat ggagtggagg tgctgtcagg ggtatggggg
      841 cgatgactgc ggagagggtc ctgcttctgt tctgggccct gcaccctcca caccacttcc
      901 ccggcccagg cctgcgcgtc ccaacctgtc tggctccagt gccggcagcc acctcagtgg
      961 actaggagga gaaggccctg gtgagacaga gaaggtgcag cagctagagc agcaggtaaa
     1021 gagtctgacc aaagagctgc aaggccttcg aggtgtcctt cagggaatga atgggcgcct
     1081 ggcagaagat gtacagaggg ctgtggaggc ggcctttaat gggaggcagc agccagcaga
     1141 tgcagctgcc cgcccaggtg tgcacgaaac cctcaatgag atccagcagc agctgcagct
     1201 cctggacaac cgtgtctcca cccatgacca ggaactgggc caccttaaca accatcataa
     1261 tggaggccct ggtggaagcg gcagggcctc agcccctgtc cctgttcctt ctggccccag
     1321 cgaggaactg ttaaggcagc tggaacggca gctgcaggag tcttgctcag tgtgcctggc
     1381 agggctggat ggcttccgcc agcagcaaca agaggatagg gagcggctgc gaaccctgga
     1441 gaagctgatg tcctctatgg aggagcggca gcagcagctt atgggacctg ccatggccag
     1501 aagaccccct caggaatgct gccccccgga gctgggtcgg agagtgtcag agctggaacg
     1561 gaggctggat gtggtggctg gctcggtgac agtgctaagc ggacgtagag gttctgagct
     1621 cggaggagca gcagggcagg ggggccatcc cccggggtac accagcttgg cctcccgcct
     1681 ttctcacctg gaggaccgct tcaactctac cctaggtccc tcagaggaac aagagaagaa
     1741 ctggcctgga ggaccaggga ggctgggcca gtggttgcct gctgctcctg gacagctgga
     1801 aaagctggag gtgctactag ccaatgtgag cagggagctg ggtggccgcc tagatctatt
     1861 ggaagagcag gtggcagggg ctgttagggc ttgtggtcag atctgttccg aggggcctgg
     1921 ggaacaggac tctcgggtca gtgagatcct cagtgccttg gagcgcaggg tgctggacag
     1981 cgagggccag ttaaggctgg tgggttcagg cttacacaaa gcagaaacgg caggggaggc
     2041 ccagcaggcc atgttggagg gactgcaagg gattctgggc cggcttcagg agcgcatgga
     2101 cacacaggaa gagacagcag cagaactctc actgcgcctc aatcttaccg cagcccagct
     2161 aagccaactg gagggtctgc tgcaagcccg tggggacgag ggctgtggtg cctgtggtgg
     2221 tgtccaggag gagctaggcc gtcttcggga tggtgtggaa cgttgctcct gcccattgtt
     2281 acctccacgg ggccctggag ctggcccagg ggttgggggc ccaagccgtg ggcctctgga
     2341 cggtttcagt gtgtttgggg gcggctcggg ctcagccctc caggcccttc aaggagaact
     2401 ctctgaggtt attctcacct tcagctccct taatgactca ctgcatgagc tccagaccac
     2461 tgtggagggc cagggcgctg atctggctga cctgggggcc accaaggaca gcatcatctc
     2521 tgagatcaac aggctacagc aggaggccac agagcacatt acagagatcg aggagcgttt
     2581 ccgaggcctg gaggaaggcc aggcccaggc gggccaatgc cctagcttag aggggcgact
     2641 aggccgcctt gagggagttt gtgaacgact ggacactgtg gcagggggac tacaaggcct
     2701 ccgtgaaggc ctttccagac acgtggccgg gctctgggct gcagtaaggg aaagcaacag
     2761 taccagtctg acgcaggccg cactgctgga gaagctgctg gggggccagg caggcctggg
     2821 caggcggctt ggtgccctca acagttccct gctgctccta gaagaccgtc tgcagcaact
     2881 tagcctaaag gacttcactg gaccttcagg caaggctggg ccccctgggc ctcctgggct
     2941 acaagggcct ccaggccctg caggacctcc aggacctcct ggcaaagatg gacaaagggg
     3001 ggccattgga ccaccaggtc ctcaaggtga acagggagtg gagggagcac cagcagcccc
     3061 cgtgcctagg gtggcatttt cagctgccct gagtttgcct cggtcagaac ccggcacagt
     3121 ccccttcgac agagtcttgc tcaacgatgg aggctactat gacccagaga caggtgtatt
     3181 cactgcgcca ctggctgggc gctacttgct gagcgctgta cttacagggc accggcacga
     3241 gaaagtggag gcagtactgt cccgctccaa cctgggcgtg gcccgcatag actcgggagg
     3301 ctatgaaccc gagggactgg agaataaacc tgtggccgaa agtcagccta gcccgggcgc
     3361 tctgggagtc ttcagcctca tcctgccact gcaggtcgga gacactgtct gcatcgacct
     3421 ggtcatgggg cagctggcac actcagagga gccgcttacc atcttcagcg gagccctgct
     3481 ttacgaggac acagaccttg aacaggtgta gacagggtgg gccggaccac caaacttatc
     3541 tacaccggtc gcagagccac ccgagtggcg gctccccacc aaggctgggg gcaagtcggg
     3601 accacgcccc actgcggttc aggcatccag atcggctcct cagcgcgtgt gactgcgtgg
     3661 tctctgggac ttaggcgtct tttcttgact tttggtctca ctaccgtccc catcagagcc
     3721 ctctccaggg cctaggctgc ggaagaggaa ccgaccttcc agggctctcc ccagcccaca
     3781 ccaccgtact aaactattca ggaataaaga cacttttttt ctacaaaaca
//
