LOCUS       NM_146015               2036 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus epidermal growth factor-containing fibulin-like
            extracellular matrix protein 1 (Efemp1), mRNA.
ACCESSION   NM_146015 XM_904562
VERSION     NM_146015.2
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 2036)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2036)
  AUTHORS   Xiao,X., Chen,C.B., Wu,Z., Ye,Y., Deng,F., Cao,Y., Liu,P. and
            Zhang,M.
  TITLE     Novel mutation in EFEMP1 identified from two Chinese POAG families
            differentially activated endoplasmic reticulum stress markers and
            induced glaucoma in mouse
  JOURNAL   J Cell Biochem 125 (1), 45-58 (2024)
   PUBMED   38083999
  REMARK    GeneRIF: Novel mutation in EFEMP1 identified from two Chinese POAG
            families differentially activated endoplasmic reticulum stress
            markers and induced glaucoma in mouse.
REFERENCE   3  (bases 1 to 2036)
  AUTHORS   Murtha,L.A., Hardy,S.A., Mabotuwana,N.S., Bigland,M.J., Bailey,T.,
            Raguram,K., Liu,S., Ngo,D.T., Sverdlov,A.L., Tomin,T.,
            Birner-Gruenberger,R., Hume,R.D., Iismaa,S.E., Humphreys,D.T.,
            Patrick,R., Chong,J.J.H., Lee,R.J., Harvey,R.P., Graham,R.M.,
            Rainer,P.P. and Boyle,A.J.
  TITLE     Fibulin-3 is necessary to prevent cardiac rupture following
            myocardial infarction
  JOURNAL   Sci Rep 13 (1), 14995 (2023)
   PUBMED   37696945
  REMARK    GeneRIF: Fibulin-3 is necessary to prevent cardiac rupture
            following myocardial infarction.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2036)
  AUTHORS   Zhi,K., Yin,R., Guo,H. and Qu,L.
  TITLE     PUM2 regulates the formation of thoracic aortic dissection through
            EFEMP1
  JOURNAL   Exp Cell Res 427 (2), 113602 (2023)
   PUBMED   37062520
  REMARK    GeneRIF: PUM2 regulates the formation of thoracic aortic dissection
            through EFEMP1.
REFERENCE   5  (bases 1 to 2036)
  AUTHORS   Crowley,M.A., Garland,D.L., Sellner,H., Banks,A., Fan,L.,
            Rejtar,T., Buchanan,N., Delgado,O., Xu,Y.Y., Jose,S., Adams,C.M.,
            Mogi,M., Wang,K., Bigelow,C.E., Poor,S., Anderson,K., Jaffee,B.D.,
            Prasanna,G., Grosskreutz,C., Fernandez-Godino,R., Pierce,E.A.,
            Dryja,T.P. and Liao,S.M.
  TITLE     Complement factor B is critical for sub-RPE deposit accumulation in
            a model of Doyne honeycomb retinal dystrophy with features of
            age-related macular degeneration
  JOURNAL   Hum Mol Genet 32 (2), 204-217 (2023)
   PUBMED   35943778
REFERENCE   6  (bases 1 to 2036)
  AUTHORS   Marmorstein,L.Y., McLaughlin,P.J., Peachey,N.S., Sasaki,T. and
            Marmorstein,A.D.
  TITLE     Formation and progression of sub-retinal pigment epithelium
            deposits in Efemp1 mutation knock-in mice: a model for the early
            pathogenic course of macular degeneration
  JOURNAL   Hum Mol Genet 16 (20), 2423-2432 (2007)
   PUBMED   17664227
  REMARK    GeneRIF: The Efemp1 knock-in mice reconstitute the most important
            histopathologic symptoms of both Malattia leventinese and
            age-related macular degeneration.
REFERENCE   7  (bases 1 to 2036)
  AUTHORS   Kobayashi,N., Kostka,G., Garbe,J.H., Keene,D.R., Bachinger,H.P.,
            Hanisch,F.G., Markova,D., Tsuda,T., Timpl,R., Chu,M.L. and
            Sasaki,T.
  TITLE     A comparative analysis of the fibulin protein family. Biochemical
            characterization, binding interactions, and tissue localization
  JOURNAL   J Biol Chem 282 (16), 11805-11816 (2007)
   PUBMED   17324935
REFERENCE   8  (bases 1 to 2036)
  AUTHORS   Ehlermann,J., Weber,S., Pfisterer,P. and Schorle,H.
  TITLE     Cloning, expression and characterization of the murine Efemp1, a
            gene mutated in Doyne-Honeycomb retinal dystrophy
  JOURNAL   Gene Expr Patterns 3 (4), 441-447 (2003)
   PUBMED   12915309
REFERENCE   9  (bases 1 to 2036)
  AUTHORS   Pfisterer,P., Ehlermann,J., Hegen,M. and Schorle,H.
  TITLE     A subtractive gene expression screen suggests a role of
            transcription factor AP-2 alpha in control of proliferation and
            differentiation
  JOURNAL   J Biol Chem 277 (8), 6637-6644 (2002)
   PUBMED   11741941
REFERENCE   10 (bases 1 to 2036)
  AUTHORS   Stone,E.M., Lotery,A.J., Munier,F.L., Heon,E., Piguet,B.,
            Guymer,R.H., Vandenburgh,K., Cousin,P., Nishimura,D.,
            Swiderski,R.E., Silvestri,G., Mackey,D.A., Hageman,G.S., Bird,A.C.,
            Sheffield,V.C. and Schorderet,D.F.
  TITLE     A single EFEMP1 mutation associated with both Malattia Leventinese
            and Doyne honeycomb retinal dystrophy
  JOURNAL   Nat Genet 22 (2), 199-202 (1999)
   PUBMED   10369267
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK077302.1 and AY251056.1.
            
            On Jan 11, 2008 this sequence version replaced NM_146015.1.
            
            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 :: AY251056.1, AK077302.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AK077302.1         3-7
            6-2036              AY251056.1         1-2031
FEATURES             Location/Qualifiers
     source          1..2036
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 16.32 cM"
     gene            1..2036
                     /gene="Efemp1"
                     /note="epidermal growth factor-containing fibulin-like
                     extracellular matrix protein 1"
                     /db_xref="GeneID:216616"
                     /db_xref="MGI:MGI:1339998"
     exon            1..120
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            121..210
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..1611
                     /gene="Efemp1"
                     /note="EGF-containing fibulin-like extracellular matrix
                     protein 1; FIBL-3; fibulin-3"
                     /codon_start=1
                     /product="EGF-containing fibulin-like extracellular matrix
                     protein 1 precursor"
                     /protein_id="NP_666127.2"
                     /db_xref="CCDS:CCDS48761.1"
                     /db_xref="GeneID:216616"
                     /db_xref="MGI:MGI:1339998"
                     /translation="MLQTLFLTMLTLALVKSQYTEETITYTQCTDGYEWDPIRQQCKD
                     IDECDIVPDACKGGMKCVNHYGGYLCLPKTAQIIVNNEHPQQETPAAEASSGATTGTV
                     AARSMATSGVVPGGGFMASATAVAGPEVQTGRNNFVIRRNPADPQRIPSNPSHRIQCA
                     AGYEQSEHNVCQDIDECTSGTHNCRTDQVCINLRGSFTCQCLPGYQKRGEQCVDIDEC
                     TVPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFI
                     CQCNQGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFSCMCPQGYEVVRSRTCQD
                     INECETTNECREDEMCWNYHGGFRCYPRNPCQDHYVLTSENRCVCPVSNTMCRELPQS
                     IVYKYMSIRSDRSVPSDIFQIQATMIYANTINTFRIKSGNENGEFYLRQTSPVSAMLV
                     LVKSLSGPREYIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF"
     exon            211..259
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            260..646
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            647..769
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            770..889
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1009
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1129
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1253
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1449
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..2036
                     /gene="Efemp1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2006..2011
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Efemp1"
                     /note="hexamer: AATAAA"
     polyA_site      2033
                     /gene="Efemp1"
                     /note="major polyA site"
ORIGIN      
        1 tttttcctcc tcctgtggct gctgctgcag ccagacctcg ccagttcaga cctaccaggc
       61 tgccctcccc tacgcactcc ttcgctgccc gggcaggaaa gttgcgcggc ccccccgcag
      121 agaatcacga tgttgcaaac acttttccta actatgctga ctctggcgct ggtcaagtca
      181 cagtacaccg aggaaaccat cacatacacg caatgcaccg atggatatga atgggacccc
      241 ataagacagc agtgtaaaga tattgatgaa tgtgacattg tcccagatgc ttgcaaaggt
      301 ggaatgaaat gtgtcaacca ctatggagga tatctctgcc ttcctaaaac agcccaaatt
      361 attgtcaata atgagcatcc tcagcaagaa acaccagctg cagaagcttc gtcaggtgcc
      421 accactggga ctgtagctgc caggagcatg gcaaccagtg gtgtggtgcc tgggggtggc
      481 ttcatggcca gtgctactgc agttgctggc cctgaagttc aaactggccg aaataacttt
      541 gtcatccgaa gaaacccagc tgaccctcag cgcatccctt ccaacccttc ccaccggatc
      601 cagtgtgcag caggctatga acagagtgag cataatgtgt gccaagatat tgatgagtgc
      661 acctcaggga ctcacaattg tagaacggac caagtatgca tcaatttacg aggttccttc
      721 acatgtcagt gtcttcctgg gtatcagaag cgaggtgaac agtgtgtgga tatagatgaa
      781 tgcacagtgc ctccatattg ccaccaaaga tgtgttaaca cacctggttc cttctactgc
      841 cagtgcagtc cagggtttca gctggcagca aacaactaca cttgtgtgga tataaatgaa
      901 tgtgatgcca gcaaccagtg tgctcaacaa tgctacaaca ttcttggctc attcatctgt
      961 cagtgtaatc aaggatatga actaagcagt gacagactca actgtgaaga catcgacgaa
     1021 tgcagaacct caagctacct atgccaatat caatgtgtca atgaacctgg gaagttctca
     1081 tgtatgtgcc cacagggtta cgaagtggtg cgcagcagaa cctgtcagga tataaatgaa
     1141 tgtgagacca ccaatgaatg ccgagaagat gagatgtgct ggaattacca tgggggcttc
     1201 cgctgttacc cacgaaaccc atgtcaagat cactatgttc taacatcaga aaaccgatgt
     1261 gtttgcccag tctcaaacac tatgtgccgg gagctgcccc agtccattgt ctacaaatac
     1321 atgagcatcc gatctgacag gtccgtgcct tcagacatct tccagataca ggcaacaatg
     1381 atttatgcaa acaccattaa tacttttcgg attaaatctg gaaatgaaaa tggagagttc
     1441 tacctacgac aaacaagccc tgtgagtgca atgctggtgc ttgtgaagtc tctatcagga
     1501 ccaagagaat acatcgtgga cctggagatg ctgacagtca gtagtatagg aaccttccgc
     1561 acaagctctg tgttaagatt gacaataata gtggggccat tttcatttta gccttttact
     1621 catataaagc ctactacaag catttaaatc agccaaacaa tatcattacc ttaaaactct
     1681 attttattta tagctatatc tagtacatgt atattcaaat agctagacta tggtaagaag
     1741 tgggcattta atccataaga gtcaatgttt atcgttatca ctgtgtgtaa attagacctt
     1801 tatccaacat taagagagct aatcatatat tatctagtga aacttggatt ctttcctgca
     1861 aaatgggacc aagcaaggat actgttctgt gttgtataga gaaatataca cctccacaga
     1921 ccatcccgtg agaattggcc atcttagcat gaagatcaag aaggagggtt tttttaactg
     1981 ctttgtaaga aaatggaaaa aagtcaataa agatatattt ctttagaaaa tgagaa
//
