LOCUS       NM_006329               2625 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens fibulin 5 (FBLN5), transcript variant 1, mRNA.
ACCESSION   NM_006329
VERSION     NM_006329.4
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 2625)
  AUTHORS   Zhao,M., Rong,R., Zhang,C., Yang,H., Han,X., Fan,Z., Zheng,Y. and
            Zhang,J.
  TITLE     FBLN5 was Regulated by PRDM9, and Promoted Senescence and
            Osteogenic Differentiation of Human Periodontal Ligament Stem Cells
  JOURNAL   Curr Stem Cell Res Ther 19 (3), 417-425 (2024)
   PUBMED   37608663
  REMARK    GeneRIF: FBLN5 was Regulated by PRDM9, and Promoted Senescence and
            Osteogenic Differentiation of Human Periodontal Ligament Stem
            Cells.
REFERENCE   2  (bases 1 to 2625)
  AUTHORS   Masood,M., Ding,Q., Cawte,A.D., Rueda,D.S., Grimm,S.W., Yague,E.
            and El-Bahrawy,M.
  TITLE     Genetic screening for anticancer genes highlights FBLN5 as a
            synthetic lethal partner of MYC
  JOURNAL   Cell Commun Signal 21 (1), 295 (2023)
   PUBMED   37864183
  REMARK    GeneRIF: Genetic screening for anticancer genes highlights FBLN5 as
            a synthetic lethal partner of MYC.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2625)
  AUTHORS   Kapuganti,R.S., Bharati,B., Mohanty,P.P. and Alone,D.P.
  TITLE     Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated
            with pseudoexfoliation glaucoma but not with pseudoexfoliation
            syndrome
  JOURNAL   Biosci Rep 43 (3) (2023)
   PUBMED   36794549
  REMARK    GeneRIF: Genetic variants and haplotypes in fibulin-5 (FBLN5) are
            associated with pseudoexfoliation glaucoma but not with
            pseudoexfoliation syndrome.
REFERENCE   4  (bases 1 to 2625)
  AUTHORS   Garcia-Valero,J., Olloquequi,J., Rodriguez,E., Martin-Satue,M.,
            Texido,L. and Ferrer,J.
  TITLE     Decreased Expression of EC-SOD and Fibulin-5 in Alveolar Walls of
            Lungs From COPD Patients
  JOURNAL   Arch Bronconeumol 58 (6), 482-489 (2022)
   PUBMED   35312591
  REMARK    GeneRIF: Decreased Expression of EC-SOD and Fibulin-5 in Alveolar
            Walls of Lungs From COPD Patients.
REFERENCE   5  (bases 1 to 2625)
  AUTHORS   Li,Y., Yang,X. and Lu,D.
  TITLE     Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T) suppresses
            lung adenocarcinoma progression via targeting fibulin-5 (FBLN5)
  JOURNAL   Bioengineered 13 (5), 11867-11880 (2022)
   PUBMED   35543375
  REMARK    GeneRIF: Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T)
            suppresses lung adenocarcinoma progression via targeting fibulin-5
            (FBLN5).
REFERENCE   6  (bases 1 to 2625)
  AUTHORS   Yanagisawa,H., Davis,E.C., Starcher,B.C., Ouchi,T., Yanagisawa,M.,
            Richardson,J.A. and Olson,E.N.
  TITLE     Fibulin-5 is an elastin-binding protein essential for elastic fibre
            development in vivo
  JOURNAL   Nature 415 (6868), 168-171 (2002)
   PUBMED   11805834
REFERENCE   7  (bases 1 to 2625)
  AUTHORS   Kobayashi,M. and Hanai,R.
  TITLE     M phase-specific association of human topoisomerase IIIbeta with
            chromosomes
  JOURNAL   Biochem Biophys Res Commun 287 (1), 282-287 (2001)
   PUBMED   11549288
REFERENCE   8  (bases 1 to 2625)
  AUTHORS   Nakamura,T., Ruiz-Lozano,P., Lindner,V., Yabe,D., Taniwaki,M.,
            Furukawa,Y., Kobuke,K., Tashiro,K., Lu,Z., Andon,N.L., Schaub,R.,
            Matsumori,A., Sasayama,S., Chien,K.R. and Honjo,T.
  TITLE     DANCE, a novel secreted RGD protein expressed in developing,
            atherosclerotic, and balloon-injured arteries
  JOURNAL   J Biol Chem 274 (32), 22476-22483 (1999)
   PUBMED   10428823
REFERENCE   9  (bases 1 to 2625)
  AUTHORS   Kowal,R.C., Jolsin,J.M., Olson,E.N. and Schultz,R.A.
  TITLE     Assignment of fibulin-5 (FBLN5) to human chromosome 14q31 by in
            situ hybridization and radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 2-3 (1999)
   PUBMED   10640802
REFERENCE   10 (bases 1 to 2625)
  AUTHORS   Van Maldergem,L. and Loeys,B.
  TITLE     FBLN5-Related Cutis Laxa
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301756
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049872.3 and AL590328.2.
            
            On Jun 2, 2020 this sequence version replaced NM_006329.3.
            
            Summary: The protein encoded by this gene is a secreted,
            extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif
            and calcium-binding EGF-like domains. It promotes adhesion of
            endothelial cells through interaction of integrins and the RGD
            motif. It is prominently expressed in developing arteries but less
            so in adult vessels. However, its expression is reinduced in
            balloon-injured vessels and atherosclerotic lesions, notably in
            intimal vascular smooth muscle cells and endothelial cells.
            Therefore, the protein encoded by this gene may play a role in
            vascular development and remodeling. Defects in this gene are a
            cause of autosomal dominant cutis laxa, autosomal recessive cutis
            laxa type I (CL type I), and age-related macular degeneration type
            3 (ARMD3). [provided by RefSeq, Jul 2008].
            
            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 :: HM005698.1, AY358898.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342058.9/ ENSP00000345008.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-482               AL049872.3         24805-25286         c
            483-537             AL049872.3         20499-20553         c
            538-589             AL049872.3         18157-18208         c
            590-844             AL049872.3         14539-14793         c
            845-967             AL590328.2         64879-65001
            968-1084            AL590328.2         68614-68730
            1085-1204           AL590328.2         72639-72758
            1205-1327           AL590328.2         76875-76997
            1328-1454           AL590328.2         78533-78659
            1455-1650           AL590328.2         82269-82464
            1651-2625           AL590328.2         89566-90540
FEATURES             Location/Qualifiers
     source          1..2625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.12"
     gene            1..2625
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /note="fibulin 5"
                     /db_xref="GeneID:10516"
                     /db_xref="HGNC:HGNC:3602"
                     /db_xref="MIM:604580"
     exon            1..482
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     CDS             466..1812
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; urine p50 protein; developmental arteries and
                     neural crest EGF-like protein; testis tissue sperm-binding
                     protein Li 75n; embryonic vascular EGF-like
                     repeat-containing protein"
                     /codon_start=1
                     /product="fibulin-5 isoform 1 precursor"
                     /protein_id="NP_006320.2"
                     /db_xref="CCDS:CCDS9898.1"
                     /db_xref="GeneID:10516"
                     /db_xref="HGNC:HGNC:3602"
                     /db_xref="MIM:604580"
                     /translation="MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDID
                     ECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAP
                     NYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQICINTEGGYTCSCTDGYW
                     LLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNECATENPCV
                     QTCVNTYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPG
                     YILLDDNRSCQDINECEHRNHTCNLQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMC
                     PAENPGCRDQPFTILYRDMDVVSGRSVPADIFQMQATTRYPGAYYIFQIKSGNEGREF
                     YMRQTGPISATLVMTRPIKGPREIQLDLEMITVNTVINFRGSSVIRLRIYVSQYPF"
     exon            483..537
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            538..589
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            590..844
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            845..967
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1084
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1204
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            1205..1327
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1454
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1650
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..2625
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2608..2613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /note="hexamer: ATTAAA"
     polyA_site      2625
                     /gene="FBLN5"
                     /gene_synonym="ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC;
                     FIBL-5; HNARMD; UP50"
                     /note="major polyA site"
ORIGIN      
        1 gccttctgcc cgggcgctcg cagccgagcg cggccgggga agggctctcc tcccagcgcc
       61 gagcactggg ccctggcaga cgccccaaga ttgttgtgag gagtctagcc agttggtgag
      121 cgctgtaatc tgaaccagct gtgtccagac tgaggcccca tttgcattgt ttaacatact
      181 tagaaaatga agtgttcatt tttaacattc ctcctccaat tggtttaatg ctgaattact
      241 gaagagggct aagcaaaacc aggtgcttgc gctgagggct ctgcagtggc tgggaggacc
      301 ccggcgctct ccccgtgtcc tctccacgac tcgctcggcc cctctggaat aaaacacccg
      361 cgagccccga gggcccagag gaggccgacg tgcccgagct cctccggggg tcccgcccgc
      421 gagctttctt ctcgccttcg catctcctcc tcgcgcgtct tggacatgcc aggaataaaa
      481 aggatactca ctgttaccat tctggctctc tgtcttccaa gccctgggaa tgcacaggca
      541 cagtgcacga atggctttga cctggatcgc cagtcaggac agtgtttaga tattgatgaa
      601 tgccgaacca tccccgaggc ctgccgagga gacatgatgt gtgttaacca aaatggcggg
      661 tatttatgca ttccccggac aaaccctgtg tatcgagggc cctactcgaa cccctactcg
      721 accccctact caggtccgta cccagcagct gccccaccac tctcagctcc aaactatccc
      781 acgatctcca ggcctcttat atgccgcttt ggataccaga tggatgaaag caaccaatgt
      841 gtggatgtgg acgagtgtgc aacagattcc caccagtgca accccaccca gatctgcatc
      901 aatactgaag gcgggtacac ctgctcctgc accgacggat attggcttct ggaaggccag
      961 tgcttagaca ttgatgaatg tcgctatggt tactgccagc agctctgtgc gaatgttcct
     1021 ggatcctatt cttgtacatg caaccctggt tttaccctca atgaggatgg aaggtcttgc
     1081 caagatgtga acgagtgtgc caccgagaac ccctgcgtgc aaacctgcgt caacacctac
     1141 ggctctttca tctgccgctg tgacccagga tatgaacttg aggaagatgg cgttcattgc
     1201 agtgatatgg acgagtgcag cttctctgag ttcctctgcc aacatgagtg tgtgaaccag
     1261 cccggcacat acttctgctc ctgccctcca ggctacatcc tgctggatga caaccgaagc
     1321 tgccaagaca tcaacgaatg tgagcacagg aaccacacgt gcaacctgca gcagacgtgc
     1381 tacaatttac aagggggctt caaatgcatt gaccccatcc gctgtgagga gccttatctg
     1441 aggatcagtg ataaccgctg tatgtgtcct gctgagaacc ctggctgcag agaccagccc
     1501 tttaccatct tgtaccggga catggacgtg gtgtcaggac gctccgttcc cgctgacatc
     1561 ttccaaatgc aagccacgac ccgctaccct ggggcctatt acattttcca gatcaaatct
     1621 gggaatgagg gcagagaatt ttacatgcgg caaacgggcc ccatcagtgc caccctggtg
     1681 atgacacgcc ccatcaaagg gccccgggaa atccagctgg acttggaaat gatcactgtc
     1741 aacactgtca tcaacttcag aggcagctcc gtgatccgac tgcggatata tgtgtcgcag
     1801 tacccattct gagcctcggg ctggagcctc cgacgctgcc tctcattggc accaagggac
     1861 aggagaagag aggaaataac agagagaatg agagcgacac agacgttagg catttcctgc
     1921 tgaacgtttc cccgaagagt cagccccgac ttcctgactc tcacctgtac tattgcagac
     1981 ctgtcaccct gcaggacttg ccacccccag ttcctatgac acagttatca aaaagtatta
     2041 tcattgctcc cctgatagaa gattgttggt gaattttcaa ggccttcagt ttatttccac
     2101 tattttcaaa gaaaatagat taggtttgcg ggggtctgag tctatgttca aagactgtga
     2161 acagcttgct gtcacttctt cacctcttcc actccttctc tcactgtgtt actgctttgc
     2221 aaagacccgg gagctggcgg ggaaccctgg gagtagctag tttgcttttt gcgtacacag
     2281 agaaggctat gtaaacaaac cacagcagga tcgaagggtt tttagagaat gtgtttcaaa
     2341 accatgcctg gtattttcaa ccataaaaga agtttcagtt gtccttaaat ttgtataacg
     2401 gtttaattct gtcttgttca ttttgagtat ttttaaaaaa tatgtcgtag aattccttcg
     2461 aaaggccttc agacacatgc tatgttctgt cttcccaaac ccagtctcct ctccatttta
     2521 gcccagtgtt ttctttgagg accccttaat cttgctttct ttagaatttt tacccaattg
     2581 gattggaatg cagaggtctc caaactgatt aaatatttga agaga
//
