LOCUS       NM_006486               2904 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.
ACCESSION   NM_006486
VERSION     NM_006486.3
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 2904)
  AUTHORS   Yang,H., Wang,W., Liu,H., Zhang,C., Cao,Y., Long,L., Han,X.,
            Wang,Y., Yan,F., Li,G., Zhu,M., Jin,L. and Fan,Z.
  TITLE     miR615-3p inhibited FBLN1 and osteogenic differentiation of
            umbilical cord mesenchymal stem cells by associated with YTHDF2 in
            a m6A-miRNA interaction manner
  JOURNAL   Cell Prolif 57 (6), e13607 (2024)
   PUBMED   38353178
  REMARK    GeneRIF: miR615-3p inhibited FBLN1 and osteogenic differentiation
            of umbilical cord mesenchymal stem cells by associated with YTHDF2
            in a m[6]A-miRNA interaction manner.
REFERENCE   2  (bases 1 to 2904)
  AUTHORS   Yang,F., Shi,J., Zhang,L., Wang,H. and Li,Y.
  TITLE     Role of fibulin-1 gene promoter methylation in the carcinogenesis
            and development of tongue squamous cell carcinoma
  JOURNAL   Oral Surg Oral Med Oral Pathol Oral Radiol 133 (4), 432-440 (2022)
   PUBMED   35153187
  REMARK    GeneRIF: Role of fibulin-1 gene promoter methylation in the
            carcinogenesis and development of tongue squamous cell carcinoma.
REFERENCE   3  (bases 1 to 2904)
  AUTHORS   Wan,Y., Song,Y., Chen,J., Kong,J., Gu,C., Huang,J. and Zuo,L.
  TITLE     Upregulated Fibulin-1 Increased Endometrial Stromal Cell Viability
            and Migration by Repressing EFEMP1-Dependent Ferroptosis in
            Endometriosis
  JOURNAL   Biomed Res Int 2022, 4809415 (2022)
   PUBMED   35127942
  REMARK    GeneRIF: Upregulated Fibulin-1 Increased Endometrial Stromal Cell
            Viability and Migration by Repressing EFEMP1-Dependent Ferroptosis
            in Endometriosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2904)
  AUTHORS   Xu,G., Geng,X., Yang,F. and Zhang,H.
  TITLE     FBLN1 promotes chondrocyte proliferation by increasing
            phosphorylation of Smad2
  JOURNAL   J Orthop Sci 27 (1), 242-248 (2022)
   PUBMED   33610427
  REMARK    GeneRIF: FBLN1 promotes chondrocyte proliferation by increasing
            phosphorylation of Smad2.
REFERENCE   5  (bases 1 to 2904)
  AUTHORS   Ustunyurt,E., Dundar,B., Simsek,D. and Temur,M.
  TITLE     Act of fibulin-1 in preeclamptic patients: can it be a predictive
            marker?
  JOURNAL   J Matern Fetal Neonatal Med 34 (22), 3775-3781 (2021)
   PUBMED   34238097
  REMARK    GeneRIF: Act of fibulin-1 in preeclamptic patients: can it be a
            predictive marker?
REFERENCE   6  (bases 1 to 2904)
  AUTHORS   Sasaki,T., Gohring,W., Pan,T.C., Chu,M.L. and Timpl,R.
  TITLE     Binding of mouse and human fibulin-2 to extracellular matrix
            ligands
  JOURNAL   J Mol Biol 254 (5), 892-899 (1995)
   PUBMED   7500359
REFERENCE   7  (bases 1 to 2904)
  AUTHORS   Roark,E.F., Keene,D.R., Haudenschild,C.C., Godyna,S., Little,C.D.
            and Argraves,W.S.
  TITLE     The association of human fibulin-1 with elastic fibers: an
            immunohistological, ultrastructural, and RNA study
  JOURNAL   J Histochem Cytochem 43 (4), 401-411 (1995)
   PUBMED   7534784
REFERENCE   8  (bases 1 to 2904)
  AUTHORS   Balbona,K., Tran,H., Godyna,S., Ingham,K.C., Strickland,D.K. and
            Argraves,W.S.
  TITLE     Fibulin binds to itself and to the carboxyl-terminal
            heparin-binding region of fibronectin
  JOURNAL   J Biol Chem 267 (28), 20120-20125 (1992)
   PUBMED   1400330
REFERENCE   9  (bases 1 to 2904)
  AUTHORS   Argraves,W.S., Tran,H., Burgess,W.H. and Dickerson,K.
  TITLE     Fibulin is an extracellular matrix and plasma glycoprotein with
            repeated domain structure
  JOURNAL   J Cell Biol 111 (6 Pt 2), 3155-3164 (1990)
   PUBMED   2269669
REFERENCE   10 (bases 1 to 2904)
  AUTHORS   Argraves,W.S., Dickerson,K., Burgess,W.H. and Ruoslahti,E.
  TITLE     Fibulin, a novel protein that interacts with the fibronectin
            receptor beta subunit cytoplasmic domain
  JOURNAL   Cell 58 (4), 623-629 (1989)
   PUBMED   2527614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021391.3, Z98047.1 and
            Z95331.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006486.2.
            
            Summary: Fibulin 1 is a secreted glycoprotein that becomes
            incorporated into a fibrillar extracellular matrix. Calcium-binding
            is apparently required to mediate its binding to laminin and
            nidogen. It mediates platelet adhesion via binding fibrinogen. Four
            splice variants which differ in the 3' end have been identified.
            Each variant encodes a different isoform, but no functional
            distinctions have been identified among the four variants.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (D) encodes the longest isoform
            (D).
            
            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 :: AF126110.1, SRR1803614.235972.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327858.11/ ENSP00000331544.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-182               AL021391.3         135806-135987
            183-288             Z98047.1           13577-13682
            289-424             Z98047.1           20438-20573
            425-587             Z98047.1           22742-22904
            588-647             Z98047.1           26160-26219
            648-749             Z98047.1           27958-28059
            750-887             Z98047.1           28656-28793
            888-1025            Z98047.1           30095-30232
            1026-1169           Z98047.1           36124-36267
            1170-1298           Z98047.1           37050-37178
            1299-1424           Z98047.1           38296-38421
            1425-1544           Z98047.1           41980-42099
            1545-1676           Z98047.1           43508-43639
            1677-1800           Z98047.1           45387-45510
            1801-1943           Z95331.2           21968-22110
            1944-2075           Z95331.2           24434-24565
            2076-2904           Z95331.2           47764-48592
FEATURES             Location/Qualifiers
     source          1..2904
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..2904
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /note="fibulin 1"
                     /db_xref="GeneID:2192"
                     /db_xref="HGNC:HGNC:3600"
                     /db_xref="MIM:135820"
     exon            1..182
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..2215
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /note="isoform D precursor is encoded by transcript
                     variant D"
                     /codon_start=1
                     /product="fibulin-1 isoform D precursor"
                     /protein_id="NP_006477.3"
                     /db_xref="CCDS:CCDS14067.1"
                     /db_xref="GeneID:2192"
                     /db_xref="HGNC:HGNC:3600"
                     /db_xref="MIM:135820"
                     /translation="MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMA
                     THQKDCSLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLE
                     ATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQE
                     TDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVN
                     ECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPD
                     FICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTC
                     QKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDG
                     ISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPC
                     SQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCS
                     CPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAAT
                     LQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTVISLPTFREFTRPEEIIFLRAITPP
                     HPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNYVV
                     GGVVSHRNVVNVHIFVSEYWF"
     exon            183..288
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            289..424
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            425..587
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            588..647
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            648..749
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..887
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1025
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1169
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1298
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1424
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1544
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1676
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..1800
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..1943
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..2075
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2076..2904
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2879..2884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /note="hexamer: AATAAA"
     polyA_site      2904
                     /gene="FBLN1"
                     /gene_synonym="FBLN; FIBL1"
                     /note="major polyA site"
ORIGIN      
        1 gttggctgcc gaggctcggc cggagcgtgg agcccgcgcc gctgccccag gaccgcgccc
       61 gcgcctttgt ccgccgccgc ccaccgcccg tcgcccgccg cccatggagc gcgccgcgcc
      121 gtcgcgccgg gtcccgcttc cgctgctgct gctcggcggc cttgcgctgc tggcggccgg
      181 agtggacgcg gatgtcctcc tggaggcctg ctgtgcggac ggacaccgga tggccactca
      241 tcagaaggac tgctcgctgc catatgctac ggaatccaaa gaatgcagga tggtgcagga
      301 gcagtgctgc cacagccagc tggaggagct gcactgtgcc acgggcatca gcctggccaa
      361 cgagcaggac cgctgtgcca cgccccacgg tgacaacgcc agcctggagg ccacatttgt
      421 gaagaggtgc tgccattgct gtctgctggg gagggcggcc caggcccagg gccagagctg
      481 cgagtacagc ctcatggttg gctaccagtg tggacaggtc ttccaggcat gctgtgtcaa
      541 gagccaggag accggagatt tggatgtcgg gggcctccaa gaaacggata agatcattga
      601 ggttgaggag gaacaagagg acccatatct gaatgaccgc tgccgaggag gcgggccctg
      661 caagcagcag tgccgagaca cgggtgacga ggtggtctgc tcctgcttcg tgggctacca
      721 gctgctgtct gatggtgtct cctgtgaaga tgtcaatgaa tgcatcacgg gcagccacag
      781 ctgccggctt ggagaatcct gcatcaacac agtgggctct ttccgctgcc agcgggacag
      841 cagctgcggg actggctatg agctcacaga ggacaatagc tgcaaagata ttgacgagtg
      901 tgagagtggt attcataact gcctccccga ttttatctgt cagaatactc tgggatcctt
      961 ccgctgccga cccaagctac agtgcaagag tggctttata caagatgctc taggcaactg
     1021 tattgatatc aatgagtgtt tgagtatcag tgccccgtgc cctatcgggc atacatgcat
     1081 caacacagag ggctcctaca cgtgccagaa gaacgtgccc aactgtggcc gtggctacca
     1141 tctcaacgag gagggaacgc gctgtgttga tgtggacgag tgcgcgccac ctgctgagcc
     1201 ctgtgggaag ggacatcgct gcgtgaactc tcccggcagt ttccgctgcg aatgcaagac
     1261 gggttactat tttgacggca tcagcaggat gtgtgtcgat gtcaacgagt gccagcgcta
     1321 ccccgggcgc ctgtgtggcc acaagtgcga gaacacgctg ggctcctacc tctgcagctg
     1381 ttccgtgggc ttccggctct ctgtggatgg caggtcatgt gaagacatca atgagtgcag
     1441 cagcagcccc tgtagccagg agtgtgccaa cgtctacggc tcctaccagt gttactgccg
     1501 gcgaggctac cagctcagcg atgtggatgg agtcacctgt gaagacatcg acgagtgcgc
     1561 cctgcccacc gggggccaca tctgctccta ccgctgcatc aacatccctg gaagcttcca
     1621 gtgcagctgc ccctcgtctg gctacaggct ggcccccaat ggccgcaact gccaagacat
     1681 tgatgagtgt gtgactggca tccacaactg ctccatcaac gagacctgct tcaacatcca
     1741 gggcggcttc cgctgcctgg ccttcgagtg ccctgagaac taccgccgct ccgcagccac
     1801 gctccagcag gagaagacag acacggtccg ctgcatcaag tcctgccgcc ccaacgatgt
     1861 cacatgcgtg ttcgaccccg tgcacaccat ctcccacacc gtcatctcgc tgcctacctt
     1921 ccgcgagttc acccgccctg aagagatcat cttcctccgg gccatcacgc caccgcatcc
     1981 tgccagccag gctaacatca tcttcgacat cacggaaggg aacctgcggg actcttttga
     2041 catcatcaag cgttacatgg acggcatgac cgtgggtgtc gtgcgccagg tgcggcccat
     2101 cgtgggccca tttcatgccg tcctgaagct ggagatgaac tatgtggtcg ggggcgtggt
     2161 ctcccaccga aatgttgtca acgtccacat cttcgtctct gagtactggt tctgagggct
     2221 ggtctgccgc acagccgcag gtgcacctcc aggccaaatc attgctgcca gtgactgtgg
     2281 tctgtacttg tttataccct cagacttttt taatgttagg tatttgtagc attaggccaa
     2341 catgtattaa gctgagccag atgaataagt ccatctgatg tattttcggt gtttaaaaaa
     2401 tgagcccagt tgctcaactg tttggttgaa aaccttgctc attttttaat gcgaaggcta
     2461 agtgtcaccc cctttctctg cctctggctg ggccttgcta agggccaagg aaagaaagac
     2521 attttttagg gggcagccag tccaaatgcc aaaagaagac cagttcttgc cctgattgta
     2581 tgaaatttga cattttggca cttttttttt ttttttggcc aatcagattt tctatgttct
     2641 aaggacatgg ctgctgtaga atagcacaga cgtggatgat aaattatccc cagaagcagc
     2701 atgacagaat gcctcgggga gcacttggaa gggaaattgc agttctgttg aaatagagga
     2761 aaatcccttg gtaaagacac agcctgttag gctcgtgtgg gcctccagta tgttcaccag
     2821 gggaatggct gggatttctc ggcactctgc atcatccatc ttttcttata ggtgggaaaa
     2881 taaacaactt tgtgatcctc ctga
//
