LOCUS       NM_153214               2303 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.
ACCESSION   NM_153214
VERSION     NM_153214.3
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 2303)
  AUTHORS   Zheng,X., Liu,L., Liu,J., Zhang,C., Zhang,J., Qi,Y., Xie,L.,
            Zhang,C., Yao,G. and Bu,P.
  TITLE     Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR
            Binding and EGFR-Dependent FAK/AKT Signaling Activation
  JOURNAL   Adv Sci (Weinh) 10 (24), e2207631 (2023)
   PUBMED   37344348
  REMARK    GeneRIF: Fibulin7 Mediated Pathological Cardiac Remodeling through
            EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.
REFERENCE   2  (bases 1 to 2303)
  AUTHORS   Sugiura,H., Tsunezumi,J., Yanagisawa,H., Futaya,M., Nitta,K. and
            Tsuchiya,K.
  TITLE     Fibulin7 aggravates calcium oxalate-induced acute kidney injury by
            binding to calcium oxalate crystals
  JOURNAL   J Cell Physiol 238 (1), 165-178 (2023)
   PUBMED   36370444
  REMARK    GeneRIF: Fibulin7 aggravates calcium oxalate-induced acute kidney
            injury by binding to calcium oxalate crystals.
REFERENCE   3  (bases 1 to 2303)
  AUTHORS   Velasco,H.M., Ullah,E., Martin,A.M., Hufnagel,R.B. and Prada,C.E.
  TITLE     Novel progressive acrodysostosis-like skeletal dysplasia,
            cerebellar atrophy, and ichthyosis
  JOURNAL   Am J Med Genet A 182 (10), 2214-2221 (2020)
   PUBMED   32783359
  REMARK    GeneRIF: Novel progressive acrodysostosis-like skeletal dysplasia,
            cerebellar atrophy, and ichthyosis.
REFERENCE   4  (bases 1 to 2303)
  AUTHORS   de Vega,S., Kondo,A., Suzuki,M., Arai,H., Jiapaer,S., Sabit,H.,
            Nakada,M., Ikeuchi,T., Ishijima,M., Arikawa-Hirasawa,E., Yamada,Y.
            and Okada,Y.
  TITLE     Fibulin-7 is overexpressed in glioblastomas and modulates
            glioblastoma neovascularization through interaction with
            angiopoietin-1
  JOURNAL   Int J Cancer 145 (8), 2157-2169 (2019)
   PUBMED   30924128
  REMARK    GeneRIF: fibulin-7 (Fbln7) bound to angiopoietin-1 through
            interaction between the N-terminal portions of Fbln7 and
            angiopoietin-1.
REFERENCE   5  (bases 1 to 2303)
  AUTHORS   Basu,K., Maurya,N., Kaur,J., Saxena,R., Gupta,V., Sihota,R. and
            Ghosh,I.
  TITLE     Possible role of differentially expressing novel protein markers
            (ligatin and fibulin-7) in human aqueous humor and trabecular
            meshwork tissue in glaucoma progression
  JOURNAL   Cell Biol Int 43 (7), 820-834 (2019)
   PUBMED   30958601
  REMARK    GeneRIF: this is the first report which confirms the presence of
            ligatin and fibulin-7 in human aqueous humor, quantified their
            differential expression, and indicated the possibility of their
            involvement in the maintenance of the trabecular meshwork structure
            in glaucoma progression.
REFERENCE   6  (bases 1 to 2303)
  AUTHORS   Russell,M.W., Raeker,M.O., Geisler,S.B., Thomas,P.E., Simmons,T.A.,
            Bernat,J.A., Thorsson,T. and Innis,J.W.
  TITLE     Functional analysis of candidate genes in 2q13 deletion syndrome
            implicates FBLN7 and TMEM87B deficiency in congenital heart defects
            and FBLN7 in craniofacial malformations
  JOURNAL   Hum Mol Genet 23 (16), 4272-4284 (2014)
   PUBMED   24694933
  REMARK    GeneRIF: Heterozygous loss of FBLN7 and TMEM87B account for some of
            the clinical features, including cardiac defects and craniofacial
            abnormalities associated with 2q13 deletion syndrome.
REFERENCE   7  (bases 1 to 2303)
  AUTHORS   de Vega,S., Suzuki,N., Nonaka,R., Sasaki,T., Forcinito,P.,
            Arikawa-Hirasawa,E. and Yamada,Y.
  TITLE     A C-terminal fragment of fibulin-7 interacts with endothelial cells
            and inhibits their tube formation in culture
  JOURNAL   Arch Biochem Biophys 545, 148-153 (2014)
   PUBMED   24480309
  REMARK    GeneRIF: Fbln7-C terminal fragment inhibited the HUVEC tube
            formation and the vessel sprouting in aortic ring assays.
REFERENCE   8  (bases 1 to 2303)
  AUTHORS   Kuo,J.C., Han,X., Hsiao,C.T., Yates,J.R. 3rd and Waterman,C.M.
  TITLE     Analysis of the myosin-II-responsive focal adhesion proteome
            reveals a role for beta-Pix in negative regulation of focal
            adhesion maturation
  JOURNAL   Nat Cell Biol 13 (4), 383-393 (2011)
   PUBMED   21423176
REFERENCE   9  (bases 1 to 2303)
  AUTHORS   Lisi,S., D'Amore,M., Scagliusi,P., Mitolo,V. and Sisto,M.
  TITLE     Anti-Ro/SSA autoantibody-mediated regulation of extracellular
            matrix fibulins in human epithelial cells of the salivary gland
  JOURNAL   Scand J Rheumatol 38 (3), 198-206 (2009)
   PUBMED   19229767
  REMARK    GeneRIF: Dysregulation of fibulin expression by anti-Ro/SSA
            antibodiess may contribute to disorganization of the extracellular
            environment and thus cause injury to the salivary gland
            architecture and functionality observed in Sjogren syndrome
REFERENCE   10 (bases 1 to 2303)
  AUTHORS   de Vega,S., Iwamoto,T., Nakamura,T., Hozumi,K., McKnight,D.A.,
            Fisher,L.W., Fukumoto,S. and Yamada,Y.
  TITLE     TM14 is a new member of the fibulin family (fibulin-7) that
            interacts with extracellular matrix molecules and is active for
            cell binding
  JOURNAL   J Biol Chem 282 (42), 30878-30888 (2007)
   PUBMED   17699513
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK094759.1, BC035784.1 and AC092645.2.
            
            On Nov 23, 2018 this sequence version replaced NM_153214.2.
            
            Transcript Variant: This variant (1) encodes the longer protein
            isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK094759.1, BC035784.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331203.7/ ENSP00000331411.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-625               AK094759.1         1-625
            626-1695            BC035784.1         579-1648
            1696-1838           AK094759.1         1696-1838
            1839-2299           BC035784.1         1792-2252
            2300-2303           AC092645.2         79673-79676
FEATURES             Location/Qualifiers
     source          1..2303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13-q14.1"
     gene            1..2303
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /note="fibulin 7"
                     /db_xref="GeneID:129804"
                     /db_xref="HGNC:HGNC:26740"
                     /db_xref="MIM:611551"
     exon            1..346
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     CDS             272..1591
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; FIBL-7"
                     /codon_start=1
                     /product="fibulin-7 isoform 1 precursor"
                     /protein_id="NP_694946.2"
                     /db_xref="CCDS:CCDS2095.1"
                     /db_xref="GeneID:129804"
                     /db_xref="HGNC:HGNC:26740"
                     /db_xref="MIM:611551"
                     /translation="MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLL
                     KGQETRFAEGIRHMKSRLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHE
                     VHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRC
                     ICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAG
                     DSVCQDVNECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVG
                     LQPVCPQGTTCINTGGSFQCVSPECPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLP
                     KTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQ
                     TGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF"
     exon            347..506
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     exon            507..677
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     exon            678..803
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     exon            804..941
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1079
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1218
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..2303
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2278..2283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /note="hexamer: AATAAA"
     polyA_site      2303
                     /gene="FBLN7"
                     /gene_synonym="TM14"
                     /note="major polyA site"
ORIGIN      
        1 cttagcccag gggccggcgc ctccccgcct cgcgcggact gtctcgtgcg ggcagctgcg
       61 ggcgcacctg gaccctcgca aggcccgggc ggcgccgatc cccgcgggac gcgctgcgct
      121 cggggcctcc cgcctccccc cctgccccag ccgccccccg gccgcgcggc gccccgcacc
      181 ctgcagggac ggctgccgca tcgctgggac aaactcggca gcggaggcaa agttatttcc
      241 cctcccaggc agcgggattc cgactggcaa gatggtgccc agctctccgc gcgcgctctt
      301 ccttctgctc ctgatcctcg cctgccccga gccgcgggct tcccagaact gtctcagcaa
      361 acagcagctc ctctcggcca tccgccagct gcagcagctg ctgaagggcc aggagacacg
      421 cttcgccgag ggcatccgcc acatgaagag ccggctggcc gcgctgcaga actctgtggg
      481 cagggtgggc ccagatgccc ttccagtttc ctgcccggct ctgaacaccc ccgcagacgg
      541 cagaaagttt ggaagcaagt acttagtgga tcacgaagtc cattttacct gcaaccctgg
      601 gttccggctg gtcgggccca gcagcgtggt gtgtcttccc aatggcacct ggacagggga
      661 gcagccccac tgtagaggta tcagtgaatg ctccagccag ccttgtcaaa atggtggtac
      721 atgtgtagaa ggagtcaacc agtacagatg catttgtcct ccaggaagga ctgggaaccg
      781 ctgtcagcat caggcccaga ctgccgcccc cgagggcagc gtggccggcg actccgcctt
      841 cagccgcgcg ccgcgctgtg cgcaggtgga gcgggctcag cactgcagct gcgaggccgg
      901 attccacctg agcggcgccg ccggcgacag cgtctgccag gacgtgaacg agtgtgagct
      961 ctacgggcag gaggggcgcc cccggctctg catgcacgcc tgcgtgaaca ccccgggctc
     1021 ttaccgttgc acctgccccg gtggataccg aactctggct gacgggaaga gctgtgagga
     1081 tgtggatgaa tgtgtgggcc tgcagccggt gtgcccccag gggaccacat gcatcaacac
     1141 cggtggaagc ttccagtgtg tcagccctga gtgccccgag ggcagcggca atgtgagcta
     1201 cgtgaagacg tctccattcc agtgtgagcg gaacccctgc cccatggaca gcaggccctg
     1261 ccgccatctg cccaagacca tctccttcca ttacctctct ctgccttcca acctgaagac
     1321 gcccatcacg ctcttccgca tggccacagc ctctgccccc ggccgagctg ggcccaacag
     1381 cctgcggttt gggatcgtgg gtgggaacag ccgcggccac tttgtgatgc agcgttcaga
     1441 ccggcagact ggggatctga tccttgtgca gaacctggag gggcctcaga cgctggaggt
     1501 ggacgtcgac atgtcggaat acctggaccg ctccttccag gccaaccacg tgtccaaggt
     1561 caccatcttt gtatccccct atgacttctg agggtacaca ggggcactgg ggtgtggaga
     1621 gctgacctca tttctcttcc ccgaaggctc agcttcgggc accgactgcg tggagcctcc
     1681 cgcctgttcc cgccctctca ccagtgcacc caggcttcta gggcagcgtt gcacggcgcc
     1741 ccatggaata gcacggaaga gcagccacaa aactcaactg ctgccatcac tctttttttt
     1801 tttctgcttt gaggcccttc ccttagatta tgcactaact ttcttaaaac tttttcatcc
     1861 aggggatggg tggctttcca aaatgctgtg caaatggcct tgtgagtttg aactagctgg
     1921 ggagagaaaa ggtggcaatg tgtgtcaggt gactatcagc ccttctgcct ttttgtagcc
     1981 aggcttgcta tgaatgaaac ggttctagtc gtgcgggggg ccctagtcat gcctctgcgc
     2041 atgtggcata ggaagtggag tctcctccca tgacccagca cgttgttctt atctgccttt
     2101 tcctctgtga catgcctgcc tgcctgcctt ctcatcagag agtcacagga gggccttaaa
     2161 ccccacgcag atccttctag accaaggacc cattgttaaa agcatggatt ctgcctgagt
     2221 tacttccctt ttgagaaatc atatctcaaa tacataacct ggtaatataa ctgaaaaaat
     2281 aaaagtgatt gctccttcct gcc
//
