LOCUS       NM_017556               3314 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript
            variant 1, mRNA.
ACCESSION   NM_017556
VERSION     NM_017556.4
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 3314)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3314)
  AUTHORS   d'Adamo,A.P., Bianco,A.M., Ferrara,G., La Bianca,M., Insalaco,A.,
            Tommasini,A., Pardeo,M., Cattalini,M., La Torre,F., Finetti,M.,
            Alizzi,C., Simonini,G., Messia,V., Pastore,S., Cimaz,R.,
            Gattorno,M. and Taddio,A.
  CONSRTM   Italian Pediatric Rheumatology Study Group
  TITLE     High prevalence of rare FBLIM1 gene variants in an Italian cohort
            of patients with Chronic Non-bacterial Osteomyelitis (CNO)
  JOURNAL   Pediatr Rheumatol Online J 18 (1), 55 (2020)
   PUBMED   32650789
  REMARK    GeneRIF: High prevalence of rare FBLIM1 gene variants in an Italian
            cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3314)
  AUTHORS   Assmann,G., Kohm,M., Schuster,V., Behrens,F., Mossner,R.,
            Magnolo,N., Oji,V., Burkhardt,H. and Huffmeier,U.
  TITLE     Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome
            and chronic recurrent multifocal osteomyelitis in typical patient
            groups
  JOURNAL   BMC Med Genet 21 (1), 102 (2020)
   PUBMED   32397996
  REMARK    GeneRIF: Genetic analyses of FBLIM1 did not provide evidence that
            this gene is relevant in our patient group. Our study indicates the
            need to elucidate SAPHO's and CRMO/CNO's pathogenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3314)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3314)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3314)
  AUTHORS   Gkretsi,V., Zhang,Y., Tu,Y., Chen,K., Stolz,D.B., Yang,Y.,
            Watkins,S.C. and Wu,C.
  TITLE     Physical and functional association of migfilin with cell-cell
            adhesions
  JOURNAL   J Cell Sci 118 (Pt 4), 697-710 (2005)
   PUBMED   15671069
REFERENCE   7  (bases 1 to 3314)
  AUTHORS   Akazawa,H., Kudoh,S., Mochizuki,N., Takekoshi,N., Takano,H.,
            Nagai,T. and Komuro,I.
  TITLE     A novel LIM protein Cal promotes cardiac differentiation by
            association with CSX/NKX2-5
  JOURNAL   J Cell Biol 164 (3), 395-405 (2004)
   PUBMED   14757752
REFERENCE   8  (bases 1 to 3314)
  AUTHORS   Tu,Y., Wu,S., Shi,X., Chen,K. and Wu,C.
  TITLE     Migfilin and Mig-2 link focal adhesions to filamin and the actin
            cytoskeleton and function in cell shape modulation
  JOURNAL   Cell 113 (1), 37-47 (2003)
   PUBMED   12679033
REFERENCE   9  (bases 1 to 3314)
  AUTHORS   Takafuta,T., Saeki,M., Fujimoto,T.T., Fujimura,K. and Shapiro,S.S.
  TITLE     A new member of the LIM protein family binds to filamin B and
            localizes at stress fibers
  JOURNAL   J Biol Chem 278 (14), 12175-12181 (2003)
   PUBMED   12496242
  REMARK    GeneRIF: The association between filamin B and FBLP-1 may play a
            hitherto unknown role in cytoskeletal function, cell adhesion, and
            cell motility.
REFERENCE   10 (bases 1 to 3314)
  AUTHORS   Jia,L., Young,M.F., Powell,J., Yang,L., Ho,N.C., Hotchkiss,R.,
            Robey,P.G. and Francomano,C.A.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK055259.1, AL133035.1 and
            AW069718.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017556.3.
            
            Summary: This gene encodes a protein with an N-terminal
            filamin-binding domain, a central proline-rich domain, and,
            multiple C-terminal LIM domains. This protein localizes at cell
            junctions and may link cell adhesion structures to the actin
            cytoskeleton. This protein may be involved in the assembly and
            stabilization of actin-filaments and likely plays a role in
            modulating cell adhesion, cell morphology and cell motility. This
            protein also localizes to the nucleus and may affect cardiomyocyte
            differentiation after binding with the CSX/NKX2-5 transcription
            factor. Alternative splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes isoform a. Variants 1
            and 4 encode the same protein (isoform a).
            
            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 :: AK055259.1, SRR7346977.1841270.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375766.8/ ENSP00000364921.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-835               AK055259.1         377-1211
            836-2067            AL133035.1         54-1285
            2068-3025           AL133035.1         1287-2244
            3026-3314           AW069718.1         23-311              c
FEATURES             Location/Qualifiers
     source          1..3314
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..3314
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /note="filamin binding LIM protein 1"
                     /db_xref="GeneID:54751"
                     /db_xref="HGNC:HGNC:24686"
                     /db_xref="MIM:607747"
     exon            1..54
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            55..244
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            245..514
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             265..1386
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /note="isoform a is encoded by transcript variant 1;
                     CSX-associated LIM; mitogen-inducible 2 interacting
                     protein; MIG2-interacting protein; migfilin"
                     /codon_start=1
                     /product="filamin-binding LIM protein 1 isoform a"
                     /protein_id="NP_060026.2"
                     /db_xref="CCDS:CCDS163.1"
                     /db_xref="GeneID:54751"
                     /db_xref="HGNC:HGNC:24686"
                     /db_xref="MIM:607747"
                     /translation="MASKPEKRVASSVFITLAPPRRDVAVAEEVRQAVCEARRGRPWE
                     APAPMKTPEAGLAGRPSPWTTPGRAAATVPAAPMQLFNGGCPPPPPVLDGEDVLPDLD
                     LLPPPPPPPPVLLPSEEEAPAPMGASLIADLEQLHLSPPPPPPQAPAEGPSVQPGPLR
                     PMEEELPPPPAEPVEKGASTDICAFCHKTVSPRELAVEAMKRQYHAQCFTCRTCRRQL
                     AGQSFYQKDGRPLCEPCYQDTLERCGKCGEVVRDHIIRALGQAFHPSCFTCVTCARCI
                     GDESFALGSQNEVYCLDDFYRKFAPVCSICENPIIPRDGKDAFKIECMGRNFHENCYR
                     CEDCRILLSVEPTDQGCYPLNNHLFCKPCHVKRSAAGCC"
     exon            515..702
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            703..805
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            806..975
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1154
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1272
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..3314
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3289..3294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /note="hexamer: AATAAA"
     polyA_site      3314
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /note="major polyA site"
ORIGIN      
        1 gggctccgct ggctcgggcg tcggatcgga gccgccgggg cgcgggcggc ccagagctgg
       61 cctgaacctc caggacttca gcccttctag gagaatctga tcccaggtga gggaggtcac
      121 ttggggtgtg gcccagcagg caggcgggac tccagactgg gaacggaagt cagccctgct
      181 ggggctggga gctgaagcat ctgttccttc ctcgcgggtg tgagacaagg aagagtgatc
      241 attgccacac caggagctga agccatggcc tcaaagcctg agaagagggt ggcatcgtct
      301 gtctttatca ccctggcacc cccgcgccgc gatgtggccg tggcggagga agtgaggcag
      361 gcagtttgtg aggcccggcg tggccgcccc tgggaggctc ctgcccccat gaagacaccc
      421 gaggctggct tggcggggag gcccagcccc tggacaaccc ctggcagagc tgcagccaca
      481 gtgccggctg cacctatgca gctcttcaat ggaggatgcc caccccctcc tcctgtcctg
      541 gatggtgagg acgtgcttcc tgacctggac ctcctcccac cccctccacc gccccctcca
      601 gtgcttctgc cttctgaaga ggaggctcct gctccaatgg gggcctcact cattgcagac
      661 ttagagcagc tgcacctgtc cccgcccccg cccccaccac aggccccagc ggagggacct
      721 tcagtccagc ccggtcccct caggcccatg gaggaagagc tgccacctcc cccggcagaa
      781 cctgttgaga aaggggcatc cacagacatc tgtgccttct gccacaagac cgtgtccccc
      841 cgagagctgg ctgtggaggc catgaagagg cagtaccatg cccagtgctt cacgtgccgc
      901 acctgccgcc gccagctggc tgggcagagc ttctaccaga aggatgggcg acccctctgc
      961 gaaccctgct accaggacac actggagagg tgcggcaagt gtggcgaggt ggtccgggac
     1021 cacatcatca gggccctggg ccaggccttc cacccctcct gcttcacgtg tgtgacctgc
     1081 gcccggtgca ttggggatga gagctttgcc ctgggcagcc agaacgaggt gtactgcctg
     1141 gacgacttct acaggaaatt cgcccccgtc tgcagcatct gtgaaaatcc catcatccct
     1201 cgggatggga aagatgcctt caaaatcgaa tgcatgggaa gaaacttcca tgaaaattgc
     1261 tacaggtgtg aggactgcag gatcctcctg tctgtcgagc ccacggacca aggctgctac
     1321 cccctgaaca accatctctt ctgcaagcca tgccatgtga agcggagtgc tgcggggtgc
     1381 tgctgagagt gcccgctggg cagtgaacag accactagcc ccggctgggg cccttccctg
     1441 acttggtttc ccttcctaac ctgctcttgc acactttcct tctgagcctc catggagacc
     1501 agcctgcaag ccggcccagc ctgtccagga tacagtgggg ctgagcaccc ccaggccttc
     1561 cactcctcta ccctctgggc accagaaggc tcctggacca tgagcttcac ccccagaatt
     1621 ccctgctgac cctgccccac ttccagggaa aagctggggg aggttggacc cctctcactg
     1681 actagctgtc tggtaggggt gctaggacca gcctcgcctg tggggttgag ctgtttgagg
     1741 acaaactcca aggtccctta aaaagtgcct tttagaggct gggcatggtg gctcacgctt
     1801 gtaatcccag cactttggga ggccaaggtg ggtggatcac ctgaggtcag gagttcaaga
     1861 ccagcctggc caacatggtg aaaccctgtc tctactaaaa atacaaaaat tagccaggca
     1921 tggtagcagg tgcctgtaat cccagctact ggggaaagct gaggcaggag aattgcttca
     1981 atctggaagg cagaggttgc agtgagattg caccattgca ttccagcctg ggcaacaaga
     2041 gggaaactcc gtctcaaaaa aaaaaaagtg ccttttaggc cggatgtggt ggctcatgcc
     2101 tgtaatccca gcactttggg aggccaaggc aggcagatca cttgaggtca ggagtttgag
     2161 accagcctgg ccaacacggc aaaaccccgt ttctactaaa aatacaaaaa ttagctgggt
     2221 gtggtggcgt gcgcctgtaa tcccagctac tcaggaggct gaggcaggag cattgcttga
     2281 acccgggagg cagaggttgc agtgagctga gatggcacca ctgcactcca gcctgggaga
     2341 cacagcgaga ctctgtctcc aaaaaaaaaa gtgctttttg aaaatgttga ggttgaaatg
     2401 atgggaacca acattctttg gatttagtgg ggagcataat agcaaacacc cccttggttc
     2461 gcacatgtac aggaatggga cccagttggg gcacagccat ggacttcccc gccctggaat
     2521 gtgtggtgca aagtggggcc agggcccaga cccaagagga gagggtggtc cgcagacacc
     2581 ccgggatgtc agcatccccc gacctgcctt ctggcggcac ctcccgggtg ctgtgttgag
     2641 tcagcaggca tggggtgaga gcctggtata tgctgggaac agggtgcagg ggccaagcgt
     2701 tcctccttca gccttgactt gggccatgca ccccctctcc cccaaacaca aacaagcact
     2761 tctccagtat ggtgccagga caggtgtccc ttcagtcctc tggttatgac ctcaagtcct
     2821 acttgggccc tgcagcccag cctgtgttgt aacctctgcg tcctcaagac cacacctgga
     2881 agattcttct tccctttgaa ggagaatcat cattgttgct ttatcacttc taagacattt
     2941 tgtacggcac ggacaagtta aacagaatgt gcttccctcc ctggggtctc acacgctccc
     3001 acgagaatgc cacaggggcc gtgcactggg caggcttctc tgtagaaccc caggggcttc
     3061 ggcccagacc acagcgtctt gccctgagcc tagagcaggg agtcccgaac ttctgcattc
     3121 acagaccacc tccacaattg ttataaccaa aggcctcctg ttctgttatt tcacttaaat
     3181 caacatgcta ttttgttttc actcacttct gactttagcc tcgtgctgag ccgtgtatcc
     3241 atgcagtcat gttcacgtgc tagttacgtt tttcttctta cacatgaaaa taaatgcata
     3301 agtgttagaa gctc
//
