2025-09-19 21:38:34, GGRNA.v2 : RefSeq release 231 (Jul, 2025)
LOCUS NM_001441109 4598 bp mRNA linear PRI 07-JUN-2025 DEFINITION Homo sapiens formin binding protein 4 (FNBP4), transcript variant 12, mRNA. ACCESSION NM_001441109 XM_024448408 XM_054332407 XM_054368195 VERSION NM_001441109.1 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 4598) 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 4598) 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 4598) 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 4598) 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 4598) 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 4598) 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 4598) 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 4598) 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 4598) 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 4598) 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_024448408.2, XM_054332407.1, XM_054368195.1. 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 :: SRR18074967.833127.1, SRR14038194.1516932.1 [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 2068-4598 AC021443.27 80147-82677 c FEATURES Location/Qualifiers source 1..4598 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p11.2" gene 1..4598 /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..2108 /gene="FNBP4" /gene_synonym="FBP30" /note="isoform 12 is encoded by transcript variant 12; formin-binding protein 30" /codon_start=1 /product="formin-binding protein 4 isoform 12" /protein_id="NP_001428038.1" /db_xref="GeneID:23360" /db_xref="HGNC:HGNC:19752" /db_xref="MIM:615265" /translation="
MGKKSRAVPGRRPILQLSPPGPRGSTPGRDPEPEPDTEPDSTAAVPSQPAPSAATTTTTAVTAAAASDDSPSEGKDEQEAVQEVPRVVQNPPKPVMTTRPTAVKATGGLCLLGAYADSDDDDNDVSEKLAQSKETNGNQSTDIDSTLANFLAEIDAITAPQPAAPVGASAPPPTPPRPEPKEAATSTLSSSTSNGTDSTQTSGWQYDTQCSLAGVGIEMGDWQEVWDENTGCYYYWNTQTNEVTWELPQYLATQVQGLQHYQPSSVPGAETSFVVNTDIYSKEKTISVSSSKSGPVIAKREVKKEVNEGIQALSNSEEEKKGVAASLLAPLLPEGIKEEEERWRRKVICKEEPVSEVKETSTTVEEATTIVKPQEIMLDNIEDPSQEDLCSVVQSGESEEEEEQDTLELELVLERKKAELRALEEGDGSVSGSSPRSDISQPASQDGMRRLMSKRGKWKMFVRATSPESTSRSSSKTGRDTPENGETAIGAENSEKIDENSDKEMEVEESPEKIKVQTTPKVEEEQDLKFQIGELANTLTSKFEFLGINRQSISNFHVLLLQTETRIADWREGALNGNYLKRKLQDAAEQLKQYEINATPKGWSCHWDRDHRRYFYVNEQSGESQWEFPDGEEEEEESQAQENRDETLAKQTLKDKTGTDSNSTESSETSTAVNELKRLDRSSG"
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..4598 /gene="FNBP4" /gene_synonym="FBP30" /inference="alignment:Splign:2.1.0" regulatory 4576..4581 /regulatory_class="polyA_signal_sequence" /gene="FNBP4" /gene_synonym="FBP30" /note="hexamer: AATAAA" polyA_site 4598 /gene="FNBP4" /gene_synonym="FBP30" /note="major polyA site" ORIGIN
agtgcccgcccctctcggccgcccgacgctctctgctcgcgcttgggctcgcgatggggaagaagtcccgggcggtacccggccgtaggcccatcctgcaactctctccgccgggtcctcggggcagcacgccgggccgggacccggagccggaacccgacactgagccggactcaaccgcggcggtccccagccagcccgccccgtcggcggcgacgaccaccaccaccgcggtgactgccgccgcggcctcggacgactcgccttcagaaggcaaggatgaacaggaagcggtgcaggaggttcctagagttgttcagaatcctccaaaaccagtcatgaccactagacccacagctgttaaagcaacaggcggtctatgcttgcttggtgcttatgctgacagtgatgacgatgacaatgatgtttccgaaaaactagcacaatccaaagagacaaatggaaaccagtcaactgatattgatagtacattggccaacttcctagcggagatcgatgccataacagctcctcagcctgcagctcctgtaggagcttctgctccacctccaactccacctcgaccagagccaaaggaagcagcaacatctaccctttcttcttctacttcaaatggaacagactccacccaaacatctggttggcaatatgatactcagtgttcactggcaggagtcggaattgagatgggcgattggcaggaagtctgggatgagaacacgggatgttattattattggaatacacaaacaaatgaagtgacttgggagttaccccaatatcttgccacacaggtacagggattacagcattaccagcccagttctgtgccaggtgctgaaactagttttgtggtaaatacagacatatattctaaggagaaaacgatttctgtttccagtagtaaaagtggaccagtcatagccaagcgagaagttaaaaaggaagtaaatgaaggaattcaggctctctcaaatagtgaggaggagaagaaaggggtggcagcatcgctgcttgctcctttattgcctgagggaataaaagaagaagaagagagatggagaagaaaagtaatttgtaaagaggagccagtttcagaagtaaaagaaacaagtacaacagtagaagaagcaacaacaatagtaaagccacaggaaattatgttggacaatatagaagacccttctcaggaggatctttgcagtgttgtccaatctggagaaagtgaggaggaagaggaacaagatacccttgaactggagctagttttggaaaggaaaaaagcagagttgcgagccttggaggaaggagatggtagtgtgtcagggtctagtccacgttctgatatcagccagccagcatctcaagatggaatgcgtaggcttatgtctaaaagaggaaaatggaagatgtttgttcgagctaccagtccagaatctaccagtaggagttctagtaaaactggacgagatactccagaaaatggagaaactgcaattggtgctgaaaattcagaaaaaatagatgagaattcagataaagagatggaagtagaagaatctccagagaaaataaaagtacagacaacaccaaaagtagaagaagaacaggatttgaaatttcagattggagaactggcaaataccctgacaagtaaattcgagtttctaggcattaatagacaatccatctccaactttcatgtgctgctcttacagactgagactcgaattgcagactggcgggaaggggctcttaatggaaactaccttaaacgaaaacttcaggatgcagcagaacaactaaaacagtatgaaataaacgccactcctaaaggctggtcctgccactgggacagggatcatagacggtatttctatgtaaacgaacagtcgggcgagtctcagtgggagtttccagatggtgaagaggaagaagaagaaagccaagcacaagaaaatagagatgagactcttgccaaacagaccttgaaagacaaaactggcactgattcaaattcaacagaatcctctgaaacttccacagcagttaatgaactgaagaggcttgatcgtagttctggataggtggctccactcctgaccactgtcaacatcccttatatgttccaaagttgaaaattccactgttaccaattctgaatgttctgtgaacactttagatgagtattaagctgttttctccctttatgacacacatagttgatactgtctggtaaaaggaggctcttgagccattcctatttaattaaaacagaactagttgtagtgtaggaaaaagccactgataaaacaggttatattcttaagcctctctttattgagaacccctagaattgcaggataaacttgatcgaagtaaaatccaaatcttaaactaagttctgtgagatttaagagcaataatcaacagttctaagcctaataaagagagctcttaatcagctcagtggtggttaaaaccagctatcttttaaagaagagaaaaaacaaaacacagcaatgccctgtctcttcagaaaattgttttaaaaagttagccaggcatagttagtggcccacgcctgtagtccgagctgtttgggaggttgaggtgggaagattggttgagcccaagattttgaggctgcagtaagccataattgtaccactgcactccagcctgagcgacagagaacaagaccctgtctcaaaaataaagtgggggaaggggtgcaaaattacactgtgagaagccaagaagtttcaaagttctatttatttttctaagtcatttttaatcattatttgttgtttcagtgtttgaatttaacattatgtttttaaagatggagtggattctaaagatgagttgggttcaagatatccaacatatcttttatattgggcttatgtcacttaggtgaagttgagctcctttttctttttaatctccatggaacaatttgtataatttcttgatttaaattgctaaactgagctcttcattcaaaatactaaacaataatttctctttggggggaaaattaaggaaggctttctatacatagaaataaagatgcctaggccgggtgcagtggctcatgcctgtaatcccaatactttggggggctgaggcgggtggatcacctgaggtcaagagttcaagaccagcctgggcaacatggtgaaaccctgcctctactaaaagtacaaaaattagctgggcgtggtggcagctgcctgtaatcccagctactcggaggctgaggcacgagaatcacttgaacctgggaggcgaaggttgcagtgaaccaagatcatgccattgcactccagcctgggcgacagagcaaaactctttatctaaaaaaaaaaaaaaaaaaaaagacgcctacagaagcaaggttcttaggtgcagtgactcatgcctgtaattccagcactttgggagtttgaggcaagaggatcacttgagctcaggaattcaaaaccagcctgggcaatatggcaagaccccatctttgcagaatattagcctagcttggtagcacgagtatgtggtcctagctacttggaaggctgaggtgggaaggatcacttgagcctggtaggttgaagctgcagtgagctatattcacaccattgcactctagcttgaacaacaaagtgagatcctgtctcaaaaagaaaaaggaaaaattacagctcacggctgtaatcccagcactttgggaggccaaggcgcgcagatcacttgaggtcaggagtttgagaccagccaacatggtatcaccctgtctctactaaaaatacaaaaattagccaggtgtcgtggcgggtgcctgtaatcccagctactcgggaggctgaggcaggagaatcgcttgaacccaggaggcagagattacagtgaaccaagatgacacctctgcactccagcctgggcaacaggcttaaagactccgtcttaaaaaaaaattaagaatttgtattctcataacatattcagttttaagcttgtagcttttaaatctttgagcacgtaataaaagctgcgtaggccaagtgtggtggctcatgcttgtaatcccagcactttgggaggctgaggcaggaggatcacctgaggtcgggagttcaagagcagcttacccaatatgtagaaaccccgcctctactaaaaatacaaaattagccaggcgtggtcgcatgcctgtaatcctagctactcgggaggctgaggcaggagaatcattgaacccaggaggcggaggttgtggtgggccaatatcacaccattgcactccaacctgggcaacaagagcaagagtccatctaaaaaaagagctgtatataccactttaatctgtccttgggcttcagacttaaatattctcttaaacagcaaaaatactaactaagttaaatttaaaagcaaggagaagcatcattgtaatacgacatccatgtgtattcaaactagaattttctgatggtcttcgtaagataaaggagataattgtcatttctatgacacagcttttataatttgaataaacttagttggagattgga
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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.
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