LOCUS       NM_001406718            2534 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens fibrillin 1 (FBN1), transcript variant 4, mRNA.
ACCESSION   NM_001406718
VERSION     NM_001406718.1
KEYWORDS    RefSeq.
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 2534)
  AUTHORS   Dougarem,D., Chen,Y.X., Sun,Y.N., Huang,H.F. and Luo,Q.
  TITLE     A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant
            RNA Splicing in Marfan Syndrome
  JOURNAL   Mol Genet Genomic Med 12 (9), e70004 (2024)
   PUBMED   39219382
  REMARK    GeneRIF: A Novel Heterozygous Intronic FBN1 Variant Contributes to
            Aberrant RNA Splicing in Marfan Syndrome.
REFERENCE   2  (bases 1 to 2534)
  AUTHORS   Romere,C., Duerrschmid,C., Bournat,J., Constable,P., Jain,M.,
            Xia,F., Saha,P.K., Del Solar,M., Zhu,B., York,B., Sarkar,P.,
            Rendon,D.A., Gaber,M.W., LeMaire,S.A., Coselli,J.S., Milewicz,D.M.,
            Sutton,V.R., Butte,N.F., Moore,D.D. and Chopra,A.R.
  TITLE     Asprosin, a Fasting-Induced Glucogenic Protein Hormone
  JOURNAL   Cell 165 (3), 566-579 (2016)
   PUBMED   27087445
  REMARK    GeneRIF: Authors discovered a protein hormone that regulates
            glucose homeostasis. It is the C-terminal cleavage product of
            profibrillin (encoded by FBN1). Its absence in humans results in a
            unique pattern of metabolic dysregulation that includes partial
            lipodystrophy, accompanied by reduced plasma insulin, while
            maintaining euglycemia.
REFERENCE   3  (bases 1 to 2534)
  AUTHORS   Ramachandra,C.J., Mehta,A., Guo,K.W., Wong,P., Tan,J.L. and Shim,W.
  TITLE     Molecular pathogenesis of Marfan syndrome
  JOURNAL   Int J Cardiol 187, 585-591 (2015)
   PUBMED   25863307
  REMARK    GeneRIF: Progressive pathological aortic root enlargement as the
            result of degeneration of microfibril architecture and
            consequential loss of extracellular matrix integrity due to
            fibrillin-1 (FBN1) mutations are commonly diagnosed clinical
            manifestations of MFS.
            Review article
REFERENCE   4  (bases 1 to 2534)
  AUTHORS   Marzin,P. and Cormier-Daire,V.
  TITLE     Geleophysic Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301776
REFERENCE   5  (bases 1 to 2534)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   6  (bases 1 to 2534)
  AUTHORS   Dietz,H.
  TITLE     FBN1-Related Marfan Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301510
REFERENCE   7  (bases 1 to 2534)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   8  (bases 1 to 2534)
  AUTHORS   Marzin,P., Cormier-Daire,V. and Tsilou,E.
  TITLE     Weill-Marchesani Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301293
REFERENCE   9  (bases 1 to 2534)
  AUTHORS   Magenis,R.E., Maslen,C.L., Smith,L., Allen,L. and Sakai,L.Y.
  TITLE     Localization of the fibrillin (FBN) gene to chromosome 15, band
            q21.1
  JOURNAL   Genomics 11 (2), 346-351 (1991)
   PUBMED   1769651
REFERENCE   10 (bases 1 to 2534)
  AUTHORS   Maslen,C.L., Corson,G.M., Maddox,B.K., Glanville,R.W. and
            Sakai,L.Y.
  TITLE     Partial sequence of a candidate gene for the Marfan syndrome
  JOURNAL   Nature 352 (6333), 334-337 (1991)
   PUBMED   1852207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC084757.2 and AC022467.7.
            
            Summary: This gene encodes a member of the fibrillin family of
            proteins. The encoded preproprotein is proteolytically processed to
            generate two proteins including the extracellular matrix component
            fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an
            extracellular matrix glycoprotein that serves as a structural
            component of calcium-binding microfibrils. These microfibrils
            provide force-bearing structural support in elastic and nonelastic
            connective tissue throughout the body. Asprosin, secreted by white
            adipose tissue, has been shown to regulate glucose homeostasis.
            Mutations in this gene are associated with Marfan syndrome and the
            related MASS phenotype, as well as ectopia lentis syndrome,
            Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and
            neonatal progeroid syndrome. [provided by RefSeq, Apr 2016].
            
            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##
            CDS exon combination :: AI167710.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2154125 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-135               AC084757.2         45337-45471         c
            136-480             AC084757.2         44368-44712         c
            481-2534            AC022467.7         191427-193480       c
FEATURES             Location/Qualifiers
     source          1..2534
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..2534
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="fibrillin 1"
                     /db_xref="GeneID:2200"
                     /db_xref="HGNC:HGNC:3603"
                     /db_xref="MIM:134797"
     exon            1..135
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /inference="alignment:Splign:2.1.0"
     exon            136..480
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             317..547
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="isoform c preproprotein is encoded by transcript
                     variant 4; fibrillin 15; fibrillin-1 preproprotein;
                     asprosin; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="fibrillin-1 isoform c preproprotein"
                     /protein_id="NP_001393647.1"
                     /db_xref="GeneID:2200"
                     /db_xref="HGNC:HGNC:3603"
                     /db_xref="MIM:134797"
                     /translation="MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKR
                     RGGGGHDALKGIAPVYKGRGDLILWLKICREV"
     exon            481..2534
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1035..1040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="hexamer: AATAAA"
     polyA_site      1062
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="major polyA site"
     regulatory      2509..2514
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
                     /note="hexamer: AATAAA"
     polyA_site      2534
                     /gene="FBN1"
                     /gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFLS;
                     MFS1; OCTD; SGS; SSKS; WMS; WMS2"
ORIGIN      
        1 agagactgtg ggtgccacaa gcggacagga gccacagctg ggacagctgc gagcggagcc
       61 gagcagtggc tgtagcggcc acgactggga gcagccgccg ccgcctcctc gggagtcgga
      121 gccgccgctt ctccactggc aggggccgcc tgaagtggga gcagcgcctg gagaaggcgg
      181 gaggagcccg gcccggggga cgggcggcgg gatagcggga ccccggcggc gcggtgcgct
      241 tcagggcgca gcggcggccg cagaccgagc cccgggcgcg gcaagaggcg gcgggagccg
      301 gtggcggctc ggcatcatgc gtcgagggcg tctgctggag atcgccctgg gatttaccgt
      361 gcttttagcg tcctacacga gccatggggc ggacgccaat ttggaggctg ggaacgtgaa
      421 ggaaaccaga gccagtcggg ccaagagaag aggcggtgga ggacacgacg cgcttaaagg
      481 gattgctcct gtatataaag gacgtgggga tttaattctg tggctgaaga tctgcagaga
      541 ggtgtgaggc ctggtcagac atttgtctca tttctctggg ctgtcaccaa ctagtgtgtt
      601 cccttgggaa tgtgaaaaaa gaaactaagc tttactttgt tgcttaacag gatgccacac
      661 ttttactcac acttgtgctt tttctctctg gttttaaatt tgtttgtgat tatagagaga
      721 tacctctctg tgctcctcac agtatttgat cattaacaca gaccttatcc tattgtaaac
      781 tatttataaa gccttcctaa aaacagggta ttaatagaat tgtaattatg tgtgttccta
      841 attctcatgt taattataag attttataat aagtgatata tatatataca cacacacaca
      901 cacacacaca tacacggggg tgaaaataat aatttaaaaa tatatacaat taaaagtatt
      961 tccctgccac ctttcagaga ccattttctt gtgtattttt ctataaatct tttaggcata
     1021 tgtatacatg tacaaataaa cacaaatata tatgtataca tacacatgtg tgtgtgtatc
     1081 ctttttaata catggaatgt attgtacatg caatattctg aactttactt actttttatg
     1141 tatctttaat gcatccatct attaactcat atggatctac ctcattcatt ttctttcttt
     1201 ttttttgaga cacagtcttg ctctgttgcc caggctggag tgtagtggtg caatcttggc
     1261 ttactgcctc caccttcccg gctcaagcga ttctcctgcc tcagcctcca gagtagctgg
     1321 gattacaggt gggtgccacc aagcccggct aattttttgt atttttagta gagatggggt
     1381 ttcgccatgt tggccaggat ggtctcaaac tcttggcctc aagcgatcca cccacctctg
     1441 cctctccaaa ttacaggctt gagccactgc gccctacccc attttcttgt tgtatagaac
     1501 ctcattatgt cactggaaca gttccctagt gatggctctt tagattacat tgagtctttt
     1561 gctattacca actttcttct gcatacctgt gtttacatac acgtgtttat atgtggtata
     1621 aattagtaaa aatagaattg ctggatcaaa gtctttccca tagattttaa gcaaacccca
     1681 attcttatgt taaatttgaa taacatttta aatttattcc ctctgcttat tgccgttaca
     1741 gtctcatatg aataaatcct ttaacggtgc cctgctgtat aaatcatcag aaaaagcagt
     1801 tatgtactac atttttccag ttattgctta aaatttctgt ttttgtctgt taaaatatta
     1861 ccggcttcaa aactcacctc tttgactaca gtgaaacctg tttaccattc tgattggaga
     1921 tgcacagttt atgaagtgaa agtgatttgt aacccccgag tctgcctgat gcccagttgg
     1981 tggcagcaac tttcagcacc tcactaatct ttcctctagt taaaaggtac cttaaactca
     2041 tcagtatctg ctgtgcactg gttccttctc cccagcaaat actgccttct tgtttttctc
     2101 tgatgtggca ggtgactaca aaatccgcct tggtattctt caaatgcata tatattcctt
     2161 tcttgtcagc tccctctctt cctagattag aaaactgcct cattttctgc tcactggatg
     2221 tgcagtccca gcttgtcttc ctctcctccc cccctgttgc aggtgttctt tttttttttt
     2281 attctctccc cactgggcag caaaagttgt tccacagtgg aaatttaggc atcctcaagt
     2341 ttcttcccag cttctgctgt gttttcttag agtaaattgc caatttctgt ttttacagga
     2401 aatccttttt taaaaatgga atcagtgtgg tccccatcta ctctgcaaaa attgcatttt
     2461 tctctatttt caaatgagat ttgttcaagt ttcaaaacca cgtgaaataa taaatgtata
     2521 gtagttttct tttc
//
