LOCUS       NM_001318339            4041 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens formin binding protein 4 (FNBP4), transcript variant
            1, mRNA.
ACCESSION   NM_001318339 XM_005252833
VERSION     NM_001318339.3
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 4041)
  AUTHORS   Das,A., Bhattacharya,S., Bhattacharjee,S., Bagchi,A. and
            Dasgupta,R.
  TITLE     Computational analyses of the length and compositional variations
            of the FNBP4 gene across 10 different species
  JOURNAL   Gene 575 (2 Pt 3), 765-777 (2016)
   PUBMED   26456197
REFERENCE   2  (bases 1 to 4041)
  AUTHORS   Nourashrafeddin,S., Aarabi,M., Modarressi,M.H., Rahmati,M. and
            Nouri,M.
  TITLE     The Evaluation of WBP2NL-Related Genes Expression in Breast Cancer
  JOURNAL   Pathol Oncol Res 21 (2), 293-300 (2015)
   PUBMED   25417742
REFERENCE   3  (bases 1 to 4041)
  AUTHORS   Das,A., Bhattacharya,S., Bagchi,A. and Dasgupta,R.
  TITLE     In-silico characterization of Formin Binding Protein 4 Family of
            proteins
  JOURNAL   Interdiscip Sci 7 (1), 43-64 (2015)
   PUBMED   25183348
REFERENCE   4  (bases 1 to 4041)
  AUTHORS   Kondo,Y., Koshimizu,E., Megarbane,A., Hamanoue,H., Okada,I.,
            Nishiyama,K., Kodera,H., Miyatake,S., Tsurusaki,Y., Nakashima,M.,
            Doi,H., Miyake,N., Saitsu,H. and Matsumoto,N.
  TITLE     Whole-exome sequencing identified a homozygous FNBP4 mutation in a
            family with a condition similar to microphthalmia with limb
            anomalies
  JOURNAL   Am J Med Genet A 161A (7), 1543-1546 (2013)
   PUBMED   23703728
  REMARK    GeneRIF: A c.683C>T (p.Thr228Met) mutation in FNBP4 was found as a
            primary candidate to microphthalmia with limb anomalies
REFERENCE   5  (bases 1 to 4041)
  AUTHORS   Aspenstrom,P.
  TITLE     Formin-binding proteins: modulators of formin-dependent actin
            polymerization
  JOURNAL   Biochim Biophys Acta 1803 (2), 174-182 (2010)
   PUBMED   19589360
  REMARK    Review article
REFERENCE   6  (bases 1 to 4041)
  AUTHORS   Zucconi,A., Dente,L., Santonico,E., Castagnoli,L. and Cesareni,G.
  TITLE     Selection of ligands by panning of domain libraries displayed on
            phage lambda reveals new potential partners of synaptojanin 1
  JOURNAL   J Mol Biol 307 (5), 1329-1339 (2001)
   PUBMED   11292345
REFERENCE   7  (bases 1 to 4041)
  AUTHORS   Bedford,M.T., Sarbassova,D., Xu,J., Leder,P. and Yaffe,M.B.
  TITLE     A novel pro-Arg motif recognized by WW domains
  JOURNAL   J Biol Chem 275 (14), 10359-10369 (2000)
   PUBMED   10744724
REFERENCE   8  (bases 1 to 4041)
  AUTHORS   Depraetere,V. and Golstein,P.
  TITLE     WW domain-containing FBP-30 is regulated by p53
  JOURNAL   Cell Death Differ 6 (9), 883-889 (1999)
   PUBMED   10510470
REFERENCE   9  (bases 1 to 4041)
  AUTHORS   Chan,D.C. and Leder,P.
  TITLE     Genetic evidence that formins function within the nucleus
  JOURNAL   J Biol Chem 271 (38), 23472-23477 (1996)
   PUBMED   8798555
REFERENCE   10 (bases 1 to 4041)
  AUTHORS   Chan,D.C., Bedford,M.T. and Leder,P.
  TITLE     Formin binding proteins bear WWP/WW domains that bind proline-rich
            peptides and functionally resemble SH3 domains
  JOURNAL   EMBO J 15 (5), 1045-1054 (1996)
   PUBMED   8605874
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY166173.1, DA238225.1,
            AB023231.2, AI434014.1 and AC021443.27.
            
            On May 31, 2019 this sequence version replaced NM_001318339.2.
            
            Summary: This gene encodes a protein containing two tryptophan-rich
            WW domains that binds the proline-rich formin homology 1 domains of
            formin family proteins, suggesting a role in the regulation of
            cytoskeletal dynamics during cell division and migration. It also
            binds intersectin family proteins suggesting a role in the
            maintenance of membrane curvature at sites of nascent vesicle
            formation. Naturally occurring mutations in this gene are
            associated with Waardenburg anophthalmia syndrome. [provided by
            RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AB023231.2, SRR7346977.1716670.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-229               HY166173.1         138-366
            230-232             DA238225.1         349-351
            233-4015            AB023231.2         363-4145
            4016-4025           AI434014.1         8-17                c
            4026-4041           AC021443.27        68981-68996         c
FEATURES             Location/Qualifiers
     source          1..4041
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..4041
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="formin binding protein 4"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
     exon            1..279
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..3113
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="isoform 1 is encoded by transcript variant 1;
                     formin-binding protein 30"
                     /codon_start=1
                     /product="formin-binding protein 4 isoform 1"
                     /protein_id="NP_001305268.1"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
                     /translation="MGKKSRAVPGRRPILQLSPPGPRGSTPGRDPEPEPDTEPDSTAA
                     VPSQPAPSAATTTTTAVTAAAASDDSPSEGKDEQEAVQEVPRVVQNPPKPVMTTRPTA
                     VKATGGLCLLGAYADSDDDDNDVSEKLAQSKETNGNQSTDIDSTLANFLAEIDAITAP
                     QPAAPVGASAPPPTPPRPEPKEAATSTLSSSTSNGTDSTQTSGWQYDTQCSLAGVGIE
                     MGDWQEVWDENTGCYYYWNTQTNEVTWELPQYLATQVQGLQHYQPSSVPGAETSFVVN
                     TDIYSKEKTISVSSSKSGPVIAKREVKKEVNEGIQALSNSEEEKKGVAASLLAPLLPE
                     GIKEEEERWRRKVICKEEPVSEVKETSTTVEEATTIVKPQEIMLDNIEDPSQEDLCSV
                     VQSGESEEEEEQDTLELELVLERKKAELRALEEGDGSVSGSSPRSDISQPASQDGMRR
                     LMSKRGKWKMFVRATSPESTSRSSSKTGRDTPENGETAIGAENSEKIDENSDKEMEVE
                     ESPEKIKVQTTPKVEEEQDLKFQIGELANTLTSKFEFLGINRQSISNFHVLLLQTETR
                     IADWREGALNGNYLKRKLQDAAEQLKQYEINATPKGWSCHWDRDHRRYFYVNEQSGES
                     QWEFPDGEEEEEESQAQENRDETLAKQTLKDKTGTDSNSTESSETSTGSLCKESFSGQ
                     VSSSSLMPLTPFWTLLQSNVPVLQPPLPLEMPPPPPPPPESPPPPPPPPPPAEDGEIQ
                     EVEMEDEGSEEPPAPGTEEDTPLKPSAQTTVVTSQSSVDSTISSSSSTKGIKRKATEI
                     STAVVQRSATIGSSPVLYSQSAIATGHQAAGIGNQATGIGHQTIPVSLPAAGMGHQAR
                     GMSLQSNYLGLAAAPAIMSYAECSVPIGVTAPSLQPVQARGAVPTATIIEPPPPPPPP
                     PPPPPPAPKMPPPEKTKKGRKDKAKKSKTKMPSLVKKWQSIQRELDEEDNSSSSEEDR
                     ESTAQKRIEEWKQQQLVSGMAERNANFEALPEDWRARLKRRKMAPNT"
     exon            280..372
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            373..509
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            510..696
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            697..844
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            845..965
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1304
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1515
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1516..1640
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1745
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1746..1879
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1880..2067
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2068..2378
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2379..2523
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2524..2864
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2865..3022
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            3023..4041
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3994..3999
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="hexamer: AATAAA"
     polyA_site      4018
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="major polyA site"
     polyA_site      4041
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
ORIGIN      
        1 agtgcccgcc cctctcggcc gcccgacgct ctctgctcgc gcttgggctc gcgatgggga
       61 agaagtcccg ggcggtaccc ggccgtaggc ccatcctgca actctctccg ccgggtcctc
      121 ggggcagcac gccgggccgg gacccggagc cggaacccga cactgagccg gactcaaccg
      181 cggcggtccc cagccagccc gccccgtcgg cggcgacgac caccaccacc gcggtgactg
      241 ccgccgcggc ctcggacgac tcgccttcag aaggcaagga tgaacaggaa gcggtgcagg
      301 aggttcctag agttgttcag aatcctccaa aaccagtcat gaccactaga cccacagctg
      361 ttaaagcaac aggcggtcta tgcttgcttg gtgcttatgc tgacagtgat gacgatgaca
      421 atgatgtttc cgaaaaacta gcacaatcca aagagacaaa tggaaaccag tcaactgata
      481 ttgatagtac attggccaac ttcctagcgg agatcgatgc cataacagct cctcagcctg
      541 cagctcctgt aggagcttct gctccacctc caactccacc tcgaccagag ccaaaggaag
      601 cagcaacatc taccctttct tcttctactt caaatggaac agactccacc caaacatctg
      661 gttggcaata tgatactcag tgttcactgg caggagtcgg aattgagatg ggcgattggc
      721 aggaagtctg ggatgagaac acgggatgtt attattattg gaatacacaa acaaatgaag
      781 tgacttggga gttaccccaa tatcttgcca cacaggtaca gggattacag cattaccagc
      841 ccagttctgt gccaggtgct gaaactagtt ttgtggtaaa tacagacata tattctaagg
      901 agaaaacgat ttctgtttcc agtagtaaaa gtggaccagt catagccaag cgagaagtta
      961 aaaaggaagt aaatgaagga attcaggctc tctcaaatag tgaggaggag aagaaagggg
     1021 tggcagcatc gctgcttgct cctttattgc ctgagggaat aaaagaagaa gaagagagat
     1081 ggagaagaaa agtaatttgt aaagaggagc cagtttcaga agtaaaagaa acaagtacaa
     1141 cagtagaaga agcaacaaca atagtaaagc cacaggaaat tatgttggac aatatagaag
     1201 acccttctca ggaggatctt tgcagtgttg tccaatctgg agaaagtgag gaggaagagg
     1261 aacaagatac ccttgaactg gagctagttt tggaaaggaa aaaagcagag ttgcgagcct
     1321 tggaggaagg agatggtagt gtgtcagggt ctagtccacg ttctgatatc agccagccag
     1381 catctcaaga tggaatgcgt aggcttatgt ctaaaagagg aaaatggaag atgtttgttc
     1441 gagctaccag tccagaatct accagtagga gttctagtaa aactggacga gatactccag
     1501 aaaatggaga aactgcaatt ggtgctgaaa attcagaaaa aatagatgag aattcagata
     1561 aagagatgga agtagaagaa tctccagaga aaataaaagt acagacaaca ccaaaagtag
     1621 aagaagaaca ggatttgaaa tttcagattg gagaactggc aaataccctg acaagtaaat
     1681 tcgagtttct aggcattaat agacaatcca tctccaactt tcatgtgctg ctcttacaga
     1741 ctgagactcg aattgcagac tggcgggaag gggctcttaa tggaaactac cttaaacgaa
     1801 aacttcagga tgcagcagaa caactaaaac agtatgaaat aaacgccact cctaaaggct
     1861 ggtcctgcca ctgggacagg gatcatagac ggtatttcta tgtaaacgaa cagtcgggcg
     1921 agtctcagtg ggagtttcca gatggtgaag aggaagaaga agaaagccaa gcacaagaaa
     1981 atagagatga gactcttgcc aaacagacct tgaaagacaa aactggcact gattcaaatt
     2041 caacagaatc ctctgaaact tccacaggtt ctctttgtaa agaatccttt tctggtcaag
     2101 tttcttcttc atcactcatg ccacttactc cattctggac cctccttcag tcaaatgttc
     2161 ctgtgcttca acctccatta cccttggaaa tgccaccacc cccacctcca cctccagaat
     2221 cacctccacc ccctcctcca ccacctcctc ctgcggaaga tggtgagatc caggaggtag
     2281 agatggagga tgagggaagt gaggagcccc ctgccccagg aacagaggaa gatacccctt
     2341 tgaaaccttc agcacaaacc acagttgtaa ctagccagag ttcagttgat tccaccatct
     2401 ctagttcttc ttccactaaa ggaataaaga ggaaagctac agaaattagc actgcagtgg
     2461 ttcagaggtc agctaccatt ggcagttctc cagttctcta tagccagtca gctatagcta
     2521 caggtcacca ggcagcaggg attggaaacc aggcaacagg aattggacat cagacaatac
     2581 cagttagcct tccagcagca ggaatgggtc atcaggccag aggaatgagc ctgcagtcaa
     2641 attaccttgg actagcggca gcacctgcaa ttatgagtta tgcagaatgt tctgtcccaa
     2701 ttggagtgac tgctccctca ttgcagccag ttcaggcccg aggtgctgtg cctaccgcta
     2761 ccattataga accaccacca ccacctcctc ctcctcctcc tccaccacca ccagctccca
     2821 aaatgccacc acctgaaaag acaaaaaaag gaaggaaaga caaggcaaag aagagtaaga
     2881 ccaaaatgcc atctttggta aaaaagtggc agagtatcca gcgtgagtta gatgaagagg
     2941 acaattctag ttccagtgaa gaggatcggg aatcaactgc acagaagcga attgaagagt
     3001 ggaaacagca gcagctggtt agtggcatgg cagagagaaa tgctaatttt gaagcccttc
     3061 ctgaggattg gagagcaagg ctgaagagaa ggaaaatggc tccaaacaca tagtttttaa
     3121 gtttttaaaa cttttttgta ttattgtttg ttttgtgttc agttcaaagt cttaaccagt
     3181 tttattgtca aataaactat aaatgttatg ggggagatct tataaatttc ctgggcaaga
     3241 gtgtatgcat acaaagtttt cacttttgtg aaatgtaatt tttctgtttt tgcaaaggga
     3301 tgaggtgatt ggaattgctt tgaccatgct gcctttattc tcaaactggc aaacttagca
     3361 tgttaggtgt attaacctca tcagtcttga agaacatgtg gctcatgagt ataacacttc
     3421 tgtagaggac tccctgacaa aagtgaagaa ttaacttctc ctccagaaca agtgcaattc
     3481 agaaggcagc tctgcattct accttgcttg actggaattg tctgaagctt tttctggcct
     3541 cttttctcta gtcggccacc cctgaagtgc tgaggtctaa gtggtttacc tcgtgctgat
     3601 agatggccac actctttaga gtagttctca taagttctag aactggtagc tcggtcgttt
     3661 cgcacactag gtggcataca ggcagcagca ggtgttcata tccttgattt tgagaatttc
     3721 ccctcaagta tgtggcagta aatacaacaa gacactctat gtattaatgt ctccattgtc
     3781 ttaaccctgt tccaaaacaa aattcacctc ctttctttat gtgaatgtat tctccataaa
     3841 attccagtat ttaaaaagca gtttactgtt ctgtactttc tgttgtatca caatcaggta
     3901 aaagtcactt taaactgagg aaacggcaaa ttgtgtttta aagctctttg tatttctcca
     3961 gtttctgacc ttgtaaattt gtatatatgc actaataaag ctttttttat aatcctgatg
     4021 ggttatcctt ttgctcgtca a
//
