LOCUS       NM_015308               4035 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens formin binding protein 4 (FNBP4), transcript variant
            2, mRNA.
ACCESSION   NM_015308
VERSION     NM_015308.5
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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 4035)
  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 DB458472.1, BC037404.1,
            AK054636.1, AI434014.1 and AC021443.27.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_015308.4.
            
            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 (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. It
            encodes isoform 2, which is shorter than 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 :: BC037404.1, AL137480.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263773.10/ ENSP00000263773.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DB458472.1         120-145
            27-224              BC037404.1         1-198
            225-2778            AK054636.1         185-2738
            2779-4011           BC037404.1         2747-3979
            4012-4019           AI434014.1         8-15                c
            4020-4035           AC021443.27        68981-68996         c
FEATURES             Location/Qualifiers
     source          1..4035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..4035
                     /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..273
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..3107
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="isoform 2 is encoded by transcript variant 2;
                     formin-binding protein 30"
                     /codon_start=1
                     /product="formin-binding protein 4 isoform 2"
                     /protein_id="NP_056123.2"
                     /db_xref="CCDS:CCDS41644.1"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
                     /translation="MGKKSRAVPGRRPILQLSPPGPRGSTPGRDPEPEPDTEPDSTAA
                     VPSQPAPSAATTTTTAVTAAAASDDSPSEDEQEAVQEVPRVVQNPPKPVMTTRPTAVK
                     ATGGLCLLGAYADSDDDDNDVSEKLAQSKETNGNQSTDIDSTLANFLAEIDAITAPQP
                     AAPVGASAPPPTPPRPEPKEAATSTLSSSTSNGTDSTQTSGWQYDTQCSLAGVGIEMG
                     DWQEVWDENTGCYYYWNTQTNEVTWELPQYLATQVQGLQHYQPSSVPGAETSFVVNTD
                     IYSKEKTISVSSSKSGPVIAKREVKKEVNEGIQALSNSEEEKKGVAASLLAPLLPEGI
                     KEEEERWRRKVICKEEPVSEVKETSTTVEEATTIVKPQEIMLDNIEDPSQEDLCSVVQ
                     SGESEEEEEQDTLELELVLERKKAELRALEEGDGSVSGSSPRSDISQPASQDGMRRLM
                     SKRGKWKMFVRATSPESTSRSSSKTGRDTPENGETAIGAENSEKIDENSDKEMEVEES
                     PEKIKVQTTPKVEEEQDLKFQIGELANTLTSKFEFLGINRQSISNFHVLLLQTETRIA
                     DWREGALNGNYLKRKLQDAAEQLKQYEINATPKGWSCHWDRDHRRYFYVNEQSGESQW
                     EFPDGEEEEEESQAQENRDETLAKQTLKDKTGTDSNSTESSETSTGSLCKESFSGQVS
                     SSSLMPLTPFWTLLQSNVPVLQPPLPLEMPPPPPPPPESPPPPPPPPPPAEDGEIQEV
                     EMEDEGSEEPPAPGTEEDTPLKPSAQTTVVTSQSSVDSTISSSSSTKGIKRKATEIST
                     AVVQRSATIGSSPVLYSQSAIATGHQAAGIGNQATGIGHQTIPVSLPAAGMGHQARGM
                     SLQSNYLGLAAAPAIMSYAECSVPIGVTAPSLQPVQARGAVPTATIIEPPPPPPPPPP
                     PPPPAPKMPPPEKTKKGRKDKAKKSKTKMPSLVKKWQSIQRELDEEDNSSSSEEDRES
                     TAQKRIEEWKQQQLVSGMAERNANFEALPEDWRARLKRRKMAPNT"
     exon            274..366
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            367..503
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            504..690
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            691..838
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            839..959
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1298
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1509
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1634
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..1739
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1873
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            1874..2061
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2062..2372
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2373..2517
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2518..2858
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            2859..3016
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     exon            3017..4035
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3988..3993
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="hexamer: AATAAA"
     polyA_site      4012
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="major polyA site"
     polyA_site      4035
                     /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 aagatgaaca ggaagcggtg caggaggttc
      301 ctagagttgt tcagaatcct ccaaaaccag tcatgaccac tagacccaca gctgttaaag
      361 caacaggcgg tctatgcttg cttggtgctt atgctgacag tgatgacgat gacaatgatg
      421 tttccgaaaa actagcacaa tccaaagaga caaatggaaa ccagtcaact gatattgata
      481 gtacattggc caacttccta gcggagatcg atgccataac agctcctcag cctgcagctc
      541 ctgtaggagc ttctgctcca cctccaactc cacctcgacc agagccaaag gaagcagcaa
      601 catctaccct ttcttcttct acttcaaatg gaacagactc cacccaaaca tctggttggc
      661 aatatgatac tcagtgttca ctggcaggag tcggaattga gatgggcgat tggcaggaag
      721 tctgggatga gaacacggga tgttattatt attggaatac acaaacaaat gaagtgactt
      781 gggagttacc ccaatatctt gccacacagg tacagggatt acagcattac cagcccagtt
      841 ctgtgccagg tgctgaaact agttttgtgg taaatacaga catatattct aaggagaaaa
      901 cgatttctgt ttccagtagt aaaagtggac cagtcatagc caagcgagaa gttaaaaagg
      961 aagtaaatga aggaattcag gctctctcaa atagtgagga ggagaagaaa ggggtggcag
     1021 catcgctgct tgctccttta ttgcctgagg gaataaaaga agaagaagag agatggagaa
     1081 gaaaagtaat ttgtaaagag gagccagttt cagaagtaaa agaaacaagt acaacagtag
     1141 aagaagcaac aacaatagta aagccacagg aaattatgtt ggacaatata gaagaccctt
     1201 ctcaggagga tctttgcagt gttgtccaat ctggagaaag tgaggaggaa gaggaacaag
     1261 atacccttga actggagcta gttttggaaa ggaaaaaagc agagttgcga gccttggagg
     1321 aaggagatgg tagtgtgtca gggtctagtc cacgttctga tatcagccag ccagcatctc
     1381 aagatggaat gcgtaggctt atgtctaaaa gaggaaaatg gaagatgttt gttcgagcta
     1441 ccagtccaga atctaccagt aggagttcta gtaaaactgg acgagatact ccagaaaatg
     1501 gagaaactgc aattggtgct gaaaattcag aaaaaataga tgagaattca gataaagaga
     1561 tggaagtaga agaatctcca gagaaaataa aagtacagac aacaccaaaa gtagaagaag
     1621 aacaggattt gaaatttcag attggagaac tggcaaatac cctgacaagt aaattcgagt
     1681 ttctaggcat taatagacaa tccatctcca actttcatgt gctgctctta cagactgaga
     1741 ctcgaattgc agactggcgg gaaggggctc ttaatggaaa ctaccttaaa cgaaaacttc
     1801 aggatgcagc agaacaacta aaacagtatg aaataaacgc cactcctaaa ggctggtcct
     1861 gccactggga cagggatcat agacggtatt tctatgtaaa cgaacagtcg ggcgagtctc
     1921 agtgggagtt tccagatggt gaagaggaag aagaagaaag ccaagcacaa gaaaatagag
     1981 atgagactct tgccaaacag accttgaaag acaaaactgg cactgattca aattcaacag
     2041 aatcctctga aacttccaca ggttctcttt gtaaagaatc cttttctggt caagtttctt
     2101 cttcatcact catgccactt actccattct ggaccctcct tcagtcaaat gttcctgtgc
     2161 ttcaacctcc attacccttg gaaatgccac cacccccacc tccacctcca gaatcacctc
     2221 caccccctcc tccaccacct cctcctgcgg aagatggtga gatccaggag gtagagatgg
     2281 aggatgaggg aagtgaggag ccccctgccc caggaacaga ggaagatacc cctttgaaac
     2341 cttcagcaca aaccacagtt gtaactagcc agagttcagt tgattccacc atctctagtt
     2401 cttcttccac taaaggaata aagaggaaag ctacagaaat tagcactgca gtggttcaga
     2461 ggtcagctac cattggcagt tctccagttc tctatagcca gtcagctata gctacaggtc
     2521 accaggcagc agggattgga aaccaggcaa caggaattgg acatcagaca ataccagtta
     2581 gccttccagc agcaggaatg ggtcatcagg ccagaggaat gagcctgcag tcaaattacc
     2641 ttggactagc ggcagcacct gcaattatga gttatgcaga atgttctgtc ccaattggag
     2701 tgactgctcc ctcattgcag ccagttcagg cccgaggtgc tgtgcctacc gctaccatta
     2761 tagaaccacc accaccacct cctcctcctc ctcctccacc accaccagct cccaaaatgc
     2821 caccacctga aaagacaaaa aaaggaagga aagacaaggc aaagaagagt aagaccaaaa
     2881 tgccatcttt ggtaaaaaag tggcagagta tccagcgtga gttagatgaa gaggacaatt
     2941 ctagttccag tgaagaggat cgggaatcaa ctgcacagaa gcgaattgaa gagtggaaac
     3001 agcagcagct ggttagtggc atggcagaga gaaatgctaa ttttgaagcc cttcctgagg
     3061 attggagagc aaggctgaag agaaggaaaa tggctccaaa cacatagttt ttaagttttt
     3121 aaaacttttt tgtattattg tttgttttgt gttcagttca aagtcttaac cagttttatt
     3181 gtcaaataaa ctataaatgt tatgggggag atcttataaa tttcctgggc aagagtgtat
     3241 gcatacaaag ttttcacttt tgtgaaatgt aatttttctg tttttgcaaa gggatgaggt
     3301 gattggaatt gctttgacca tgctgccttt attctcaaac tggcaaactt agcatgttag
     3361 gtgtattaac ctcatcagtc ttgaagaaca tgtggctcat gagtataaca cttctgtaga
     3421 ggactccctg acaaaagtga agaattaact tctcctccag aacaagtgca attcagaagg
     3481 cagctctgca ttctaccttg cttgactgga attgtctgaa gctttttctg gcctcttttc
     3541 tctagtcggc cacccctgaa gtgctgaggt ctaagtggtt tacctcgtgc tgatagatgg
     3601 ccacactctt tagagtagtt ctcataagtt ctagaactgg tagctcggtc gtttcgcaca
     3661 ctaggtggca tacaggcagc agcaggtgtt catatccttg attttgagaa tttcccctca
     3721 agtatgtggc agtaaataca acaagacact ctatgtatta atgtctccat tgtcttaacc
     3781 ctgttccaaa acaaaattca cctcctttct ttatgtgaat gtattctcca taaaattcca
     3841 gtatttaaaa agcagtttac tgttctgtac tttctgttgt atcacaatca ggtaaaagtc
     3901 actttaaact gaggaaacgg caaattgtgt tttaaagctc tttgtatttc tccagtttct
     3961 gaccttgtaa atttgtatat atgcactaat aaagcttttt ttataatcct gatgggttat
     4021 ccttttgctc gtcaa
//
