LOCUS       NM_001024215            1521 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript
            variant 2, mRNA.
ACCESSION   NM_001024215
VERSION     NM_001024215.1
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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 1521)
  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 AL450998.19, AF459643.1 and
            CN278745.1.
            
            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 (2) lacks multiple 3' exons and
            contains an extra segment with an early stop codon, compared to
            variant 1. The encoded protein (isoform b) is longer and has a
            distinct C-terminus, compared to 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 :: AF459643.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               AL450998.19        41735-41921
            188-457             AL450998.19        42200-42469
            458-645             AL450998.19        44612-44799
            646-748             AL450998.19        45764-45866
            749-779             AL450998.19        47645-47675
            780-1462            AF459643.1         780-1462
            1463-1521           CN278745.1         636-694
FEATURES             Location/Qualifiers
     source          1..1521
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..1521
                     /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..187
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            188..457
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             208..1332
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /note="isoform b is encoded by transcript variant 2;
                     CSX-associated LIM; mitogen-inducible 2 interacting
                     protein; MIG2-interacting protein; migfilin"
                     /codon_start=1
                     /product="filamin-binding LIM protein 1 isoform b"
                     /protein_id="NP_001019386.1"
                     /db_xref="CCDS:CCDS44064.1"
                     /db_xref="GeneID:54751"
                     /db_xref="HGNC:HGNC:24686"
                     /db_xref="MIM:607747"
                     /translation="MASKPEKRVASSVFITLAPPRRDVAVAEEVRQAVCEARRGRPWE
                     APAPMKTPEAGLAGRPSPWTTPGRAAATVPAAPMQLFNGGCPPPPPVLDGEDVLPDLD
                     LLPPPPPPPPVLLPSEEEAPAPMGASLIADLEQLHLSPPPPPPQAPAEGPSVQPGPLR
                     PMEEELPPPPAEPVEKGASTDICAFCHKTVSPRELAVEAMKRQYHAQCFTCRTCRRQL
                     AGQSFYQKDGRPLCEPCYQDTLERCGKCGEVVRDHIIRALGQAFHPSCFTCVTCARCI
                     GDESFALGSQNEVYCLDDFYRYEKGLCTGWGAGTGRDPSRVKELSLSPGCWARVSCLL
                     VYYKEYYRAGLGAVAHACNPSTLGGRGGWITRSGDRDHPG"
     exon            458..645
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            646..748
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            749..918
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1521
                     /gene="FBLIM1"
                     /gene_synonym="CAL; FBLP-1; FBLP1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tggcctgaac ctccaggact tcagcccttc taggagaatc tgatcccagg tgagggaggt
       61 cacttggggt gtggcccagc aggcaggcgg gactccagac tgggaacgga agtcagccct
      121 gctggggctg ggagctgaag catctgttcc ttcctcgcgg gtgtgagaca aggaagagtg
      181 atcattgcca caccaggagc tgaagccatg gcctcaaagc ctgagaagag ggtggcatcg
      241 tctgtcttta tcaccctggc acccccgcgc cgcgatgtgg ccgtggcgga ggaagtgagg
      301 caggcagttt gtgaggcccg gcgtggccgc ccctgggagg ctcctgcccc catgaagaca
      361 cccgaggctg gcttggcggg gaggcccagc ccctggacaa cccctggcag agctgcagcc
      421 acagtgccgg ctgcacctat gcagctcttc aatggaggat gcccaccccc tcctcctgtc
      481 ctggatggtg aggacgtgct tcctgacctg gacctcctcc caccccctcc accgccccct
      541 ccagtgcttc tgccttctga agaggaggct cctgctccaa tgggggcctc actcattgca
      601 gacttagagc agctgcacct gtccccgccc ccgcccccac cacaggcccc agcggaggga
      661 ccttcagtcc agcccggtcc cctcaggccc atggaggaag agctgccacc tcccccggca
      721 gaacctgttg agaaaggggc atccacagac atctgtgcct tctgccacaa gaccgtgtcc
      781 ccccgagagc tggctgtgga ggccatgaag aggcagtacc atgcccagtg cttcacgtgc
      841 cgcacctgcc gccgccagct ggctgggcag agcttctacc agaaggatgg gcgacccctc
      901 tgcgaaccct gctaccagga cacactggag aggtgcggca agtgtggcga ggtggtccgg
      961 gaccacatca tcagggccct gggccaggcc ttccacccct cctgcttcac gtgtgtgacc
     1021 tgcgcccggt gcattgggga tgagagcttt gccctgggca gccagaacga ggtgtactgc
     1081 ctggacgact tctacaggta cgagaagggt ttgtgcactg ggtggggtgc agggacaggg
     1141 cgagacccaa gcagggtgaa ggagctgagc ttgagtcctg ggtgctgggc cagagtttcc
     1201 tgtctactgg tttattataa agaatattac agggctgggc tgggcgcggt ggctcacgcc
     1261 tgtaatccca gcactttggg aggccgaggc gggtggatca cgaggtcagg agatcgagat
     1321 catcctggct aacatggtga aaccccgtct ctactaaaaa tacaaaaaaa attagccagg
     1381 catggtggcg ggcgcctgta gtcccagcta ctcgggaggc tgaggcagga gaatggcgtg
     1441 aacctgggag gcagagcttg cagtgagccg agatcacgcc actgcactcc agcctgggca
     1501 acagagtgtg agactccgtc t
//
