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2025-09-19 23:27:26, GGRNA.v2 : RefSeq release 231 (Jul, 2025)

LOCUS       NM_001441110            4595 bp    mRNA    linear   PRI 07-JUN-2025
DEFINITION  Homo sapiens formin binding protein 4 (FNBP4), transcript variant
            13, mRNA.
ACCESSION   NM_001441110 XM_024448409 XM_054332408 XM_054368196
VERSION     NM_001441110.1
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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 4595)
  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 AC021443.27.
            
            On or before Jun 7, 2025 this sequence version replaced
            XM_024448409.2, XM_054332408.1, XM_054368196.1.
            
            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].
            
            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 :: SRR14038196.2060156.1,
                                           SRR18074967.3530466.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-279               AC021443.27        119550-119828       c
            280-372             AC021443.27        117757-117849       c
            373-509             AC021443.27        107015-107151       c
            510-696             AC021443.27        105403-105589       c
            697-844             AC021443.27        103630-103777       c
            845-965             AC021443.27        103403-103523       c
            966-1304            AC021443.27        98543-98881         c
            1305-1515           AC021443.27        96440-96650         c
            1516-1640           AC021443.27        89103-89227         c
            1641-1745           AC021443.27        86512-86616         c
            1746-1879           AC021443.27        85024-85157         c
            1880-2067           AC021443.27        83861-84048         c
            2068-4595           AC021443.27        80147-82674         c
FEATURES             Location/Qualifiers
     source          1..4595
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..4595
                     /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..2105
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="isoform 13 is encoded by transcript variant 13;
                     formin-binding protein 30"
                     /codon_start=1
                     /product="formin-binding protein 4 isoform 13"
                     /protein_id="NP_001428039.1"
                     /db_xref="GeneID:23360"
                     /db_xref="HGNC:HGNC:19752"
                     /db_xref="MIM:615265"
                     /translation="
MGKKSRAVPGRRPILQLSPPGPRGSTPGRDPEPEPDTEPDSTAAVPSQPAPSAATTTTTAVTAAAASDDSPSEGKDEQEAVQEVPRVVQNPPKPVMTTRPTAVKATGGLCLLGAYADSDDDDNDVSEKLAQSKETNGNQSTDIDSTLANFLAEIDAITAPQPAAPVGASAPPPTPPRPEPKEAATSTLSSSTSNGTDSTQTSGWQYDTQCSLAGVGIEMGDWQEVWDENTGCYYYWNTQTNEVTWELPQYLATQVQGLQHYQPSSVPGAETSFVVNTDIYSKEKTISVSSSKSGPVIAKREVKKEVNEGIQALSNSEEEKKGVAASLLAPLLPEGIKEEEERWRRKVICKEEPVSEVKETSTTVEEATTIVKPQEIMLDNIEDPSQEDLCSVVQSGESEEEEEQDTLELELVLERKKAELRALEEGDGSVSGSSPRSDISQPASQDGMRRLMSKRGKWKMFVRATSPESTSRSSSKTGRDTPENGETAIGAENSEKIDENSDKEMEVEESPEKIKVQTTPKVEEEQDLKFQIGELANTLTSKFEFLGINRQSISNFHVLLLQTETRIADWREGALNGNYLKRKLQDAAEQLKQYEINATPKGWSCHWDRDHRRYFYVNEQSGESQWEFPDGEEEEEESQAQENRDETLAKQTLKDKTGTDSNSTESSETSTVNELKRLDRSSG"
     misc_feature    105..107
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N3X1.3);
                     phosphorylation site"
     misc_feature    405..407
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N3X1.3);
                     phosphorylation site"
     misc_feature    429..431
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    537..665
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    573..575
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:17081983; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    927..929
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); acetylation site"
     misc_feature    1320..1616
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N3X1.3);
                     Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
     misc_feature    1338..1340
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1353..1355
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1362..1364
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1371..1373
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1383..1385
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZQ03; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1449..1451
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1494..1496
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1554..1556
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:19690332,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1581..1583
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q8N3X1.3);
                     phosphorylation site"
     misc_feature    1605..1607
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     misc_feature    1608..1610
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q8N3X1.3); phosphorylation site"
     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..4595
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4573..4578
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="hexamer: AATAAA"
     polyA_site      4595
                     /gene="FNBP4"
                     /gene_synonym="FBP30"
                     /note="major polyA site"
ORIGIN      
agtgcccgcccctctcggccgcccgacgctctctgctcgcgcttgggctcgcgatggggaagaagtcccgggcggtacccggccgtaggcccatcctgcaactctctccgccgggtcctcggggcagcacgccgggccgggacccggagccggaacccgacactgagccggactcaaccgcggcggtccccagccagcccgccccgtcggcggcgacgaccaccaccaccgcggtgactgccgccgcggcctcggacgactcgccttcagaaggcaaggatgaacaggaagcggtgcaggaggttcctagagttgttcagaatcctccaaaaccagtcatgaccactagacccacagctgttaaagcaacaggcggtctatgcttgcttggtgcttatgctgacagtgatgacgatgacaatgatgtttccgaaaaactagcacaatccaaagagacaaatggaaaccagtcaactgatattgatagtacattggccaacttcctagcggagatcgatgccataacagctcctcagcctgcagctcctgtaggagcttctgctccacctccaactccacctcgaccagagccaaaggaagcagcaacatctaccctttcttcttctacttcaaatggaacagactccacccaaacatctggttggcaatatgatactcagtgttcactggcaggagtcggaattgagatgggcgattggcaggaagtctgggatgagaacacgggatgttattattattggaatacacaaacaaatgaagtgacttgggagttaccccaatatcttgccacacaggtacagggattacagcattaccagcccagttctgtgccaggtgctgaaactagttttgtggtaaatacagacatatattctaaggagaaaacgatttctgtttccagtagtaaaagtggaccagtcatagccaagcgagaagttaaaaaggaagtaaatgaaggaattcaggctctctcaaatagtgaggaggagaagaaaggggtggcagcatcgctgcttgctcctttattgcctgagggaataaaagaagaagaagagagatggagaagaaaagtaatttgtaaagaggagccagtttcagaagtaaaagaaacaagtacaacagtagaagaagcaacaacaatagtaaagccacaggaaattatgttggacaatatagaagacccttctcaggaggatctttgcagtgttgtccaatctggagaaagtgaggaggaagaggaacaagatacccttgaactggagctagttttggaaaggaaaaaagcagagttgcgagccttggaggaaggagatggtagtgtgtcagggtctagtccacgttctgatatcagccagccagcatctcaagatggaatgcgtaggcttatgtctaaaagaggaaaatggaagatgtttgttcgagctaccagtccagaatctaccagtaggagttctagtaaaactggacgagatactccagaaaatggagaaactgcaattggtgctgaaaattcagaaaaaatagatgagaattcagataaagagatggaagtagaagaatctccagagaaaataaaagtacagacaacaccaaaagtagaagaagaacaggatttgaaatttcagattggagaactggcaaataccctgacaagtaaattcgagtttctaggcattaatagacaatccatctccaactttcatgtgctgctcttacagactgagactcgaattgcagactggcgggaaggggctcttaatggaaactaccttaaacgaaaacttcaggatgcagcagaacaactaaaacagtatgaaataaacgccactcctaaaggctggtcctgccactgggacagggatcatagacggtatttctatgtaaacgaacagtcgggcgagtctcagtgggagtttccagatggtgaagaggaagaagaagaaagccaagcacaagaaaatagagatgagactcttgccaaacagaccttgaaagacaaaactggcactgattcaaattcaacagaatcctctgaaacttccacagttaatgaactgaagaggcttgatcgtagttctggataggtggctccactcctgaccactgtcaacatcccttatatgttccaaagttgaaaattccactgttaccaattctgaatgttctgtgaacactttagatgagtattaagctgttttctccctttatgacacacatagttgatactgtctggtaaaaggaggctcttgagccattcctatttaattaaaacagaactagttgtagtgtaggaaaaagccactgataaaacaggttatattcttaagcctctctttattgagaacccctagaattgcaggataaacttgatcgaagtaaaatccaaatcttaaactaagttctgtgagatttaagagcaataatcaacagttctaagcctaataaagagagctcttaatcagctcagtggtggttaaaaccagctatcttttaaagaagagaaaaaacaaaacacagcaatgccctgtctcttcagaaaattgttttaaaaagttagccaggcatagttagtggcccacgcctgtagtccgagctgtttgggaggttgaggtgggaagattggttgagcccaagattttgaggctgcagtaagccataattgtaccactgcactccagcctgagcgacagagaacaagaccctgtctcaaaaataaagtgggggaaggggtgcaaaattacactgtgagaagccaagaagtttcaaagttctatttatttttctaagtcatttttaatcattatttgttgtttcagtgtttgaatttaacattatgtttttaaagatggagtggattctaaagatgagttgggttcaagatatccaacatatcttttatattgggcttatgtcacttaggtgaagttgagctcctttttctttttaatctccatggaacaatttgtataatttcttgatttaaattgctaaactgagctcttcattcaaaatactaaacaataatttctctttggggggaaaattaaggaaggctttctatacatagaaataaagatgcctaggccgggtgcagtggctcatgcctgtaatcccaatactttggggggctgaggcgggtggatcacctgaggtcaagagttcaagaccagcctgggcaacatggtgaaaccctgcctctactaaaagtacaaaaattagctgggcgtggtggcagctgcctgtaatcccagctactcggaggctgaggcacgagaatcacttgaacctgggaggcgaaggttgcagtgaaccaagatcatgccattgcactccagcctgggcgacagagcaaaactctttatctaaaaaaaaaaaaaaaaaaaaagacgcctacagaagcaaggttcttaggtgcagtgactcatgcctgtaattccagcactttgggagtttgaggcaagaggatcacttgagctcaggaattcaaaaccagcctgggcaatatggcaagaccccatctttgcagaatattagcctagcttggtagcacgagtatgtggtcctagctacttggaaggctgaggtgggaaggatcacttgagcctggtaggttgaagctgcagtgagctatattcacaccattgcactctagcttgaacaacaaagtgagatcctgtctcaaaaagaaaaaggaaaaattacagctcacggctgtaatcccagcactttgggaggccaaggcgcgcagatcacttgaggtcaggagtttgagaccagccaacatggtatcaccctgtctctactaaaaatacaaaaattagccaggtgtcgtggcgggtgcctgtaatcccagctactcgggaggctgaggcaggagaatcgcttgaacccaggaggcagagattacagtgaaccaagatgacacctctgcactccagcctgggcaacaggcttaaagactccgtcttaaaaaaaaattaagaatttgtattctcataacatattcagttttaagcttgtagcttttaaatctttgagcacgtaataaaagctgcgtaggccaagtgtggtggctcatgcttgtaatcccagcactttgggaggctgaggcaggaggatcacctgaggtcgggagttcaagagcagcttacccaatatgtagaaaccccgcctctactaaaaatacaaaattagccaggcgtggtcgcatgcctgtaatcctagctactcgggaggctgaggcaggagaatcattgaacccaggaggcggaggttgtggtgggccaatatcacaccattgcactccaacctgggcaacaagagcaagagtccatctaaaaaaagagctgtatataccactttaatctgtccttgggcttcagacttaaatattctcttaaacagcaaaaatactaactaagttaaatttaaaagcaaggagaagcatcattgtaatacgacatccatgtgtattcaaactagaattttctgatggtcttcgtaagataaaggagataattgtcatttctatgacacagcttttataatttgaataaacttagttggagattgga
//

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]