LOCUS       NM_001350451            3163 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens RNA binding fox-1 homolog 3 (RBFOX3), transcript
            variant 2, mRNA.
ACCESSION   NM_001350451 XM_011524363
VERSION     NM_001350451.2
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 3163)
  AUTHORS   Xu,Z., Zheng,L. and Li,S.
  TITLE     Paclitaxel-induced inhibition of NSCLC invasion and migration via
            RBFOX3-mediated circIGF1R biogenesis
  JOURNAL   Sci Rep 14 (1), 774 (2024)
   PUBMED   38191906
  REMARK    GeneRIF: Paclitaxel-induced inhibition of NSCLC invasion and
            migration via RBFOX3-mediated circIGF1R biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3163)
  AUTHORS   Wang,X., Guo,Z., Zhu,H., Xin,J., Yuan,L., Qin,C., Wang,M.,
            Zhang,Z., Wang,Y. and Chu,H.
  TITLE     Genetic variants in splicing factor genes and susceptibility to
            bladder cancer
  JOURNAL   Gene 809, 146022 (2022)
   PUBMED   34673209
  REMARK    GeneRIF: Genetic variants in splicing factor genes and
            susceptibility to bladder cancer.
REFERENCE   3  (bases 1 to 3163)
  AUTHORS   Ungari,M., Manotti,L., Tanzi,G., Varotti,E., Ferrero,G.,
            Gusolfino,M.D., Trombatore,M., Cavazzuti,L. and Tolomini,M.
  TITLE     NeuN, a DNA-binding neuron-specific protein expressed by Merkel
            cell carcinoma: analysis of 15 cases
  JOURNAL   Pathologica 113 (6), 421-426 (2021)
   PUBMED   34974547
  REMARK    GeneRIF: NeuN, a DNA-binding neuron-specific protein expressed by
            Merkel cell carcinoma: analysis of 15 cases.
REFERENCE   4  (bases 1 to 3163)
  AUTHORS   Behesti,H., Kocabas,A., Buchholz,D.E., Carroll,T.S. and Hatten,M.E.
  TITLE     Altered temporal sequence of transcriptional regulators in the
            generation of human cerebellar granule cells
  JOURNAL   Elife 10, e67074 (2021)
   PUBMED   34842137
  REMARK    GeneRIF: Altered temporal sequence of transcriptional regulators in
            the generation of human cerebellar granule cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3163)
  AUTHORS   Tascon-Arcila,J., Rojas-Jimenez,S., Cornejo-Sanchez,D.,
            Gomez-Builes,P., Ucroz-Benavides,A., Holguin,B.M.,
            Restrepo-Arbelaez,D., Gomez-Castillo,C., Solarte-Mia,R.,
            Cornejo-Ochoa,W. and Pineda-Trujillo,N.
  TITLE     Differential Clinical Features in Colombian Patients With Rolandic
            Epilepsy and Suggestion of Unlikely Association With GRIN2A,
            RBFOX1, or RBFOX3 Gene Variants
  JOURNAL   J Child Neurol 36 (10), 875-882 (2021)
   PUBMED   34039076
  REMARK    GeneRIF: Differential Clinical Features in Colombian Patients With
            Rolandic Epilepsy and Suggestion of Unlikely Association With
            GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
REFERENCE   6  (bases 1 to 3163)
  AUTHORS   Beaty,T.H., Taub,M.A., Scott,A.F., Murray,J.C., Marazita,M.L.,
            Schwender,H., Parker,M.M., Hetmanski,J.B., Balakrishnan,P.,
            Mansilla,M.A., Mangold,E., Ludwig,K.U., Noethen,M.M., Rubini,M.,
            Elcioglu,N. and Ruczinski,I.
  TITLE     Confirming genes influencing risk to cleft lip with/without cleft
            palate in a case-parent trio study
  JOURNAL   Hum Genet 132 (7), 771-781 (2013)
   PUBMED   23512105
  REMARK    GeneRIF: In addition, eight genes classified as 'second tier' hits
            in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2,
            GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and
            association in this replication sample.
REFERENCE   7  (bases 1 to 3163)
  AUTHORS   Hagel,C., Treszl,A., Fehlert,J., Harder,J., von Haxthausen,F.,
            Kern,M., von Bueren,A.O. and Kordes,U.
  TITLE     Supra- and infratentorial pediatric ependymomas differ
            significantly in NeuN, p75 and GFAP expression
  JOURNAL   J Neurooncol 112 (2), 191-197 (2013)
   PUBMED   23371454
  REMARK    GeneRIF: High NeuN levels are associated with supratentorial
            ependymomas.
REFERENCE   8  (bases 1 to 3163)
  AUTHORS   Dredge,B.K. and Jensen,K.B.
  TITLE     NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially
            regulate alternative splicing and nonsense-mediated decay of Rbfox2
  JOURNAL   PLoS One 6 (6), e21585 (2011)
   PUBMED   21747913
REFERENCE   9  (bases 1 to 3163)
  AUTHORS   Kim,K.K., Adelstein,R.S. and Kawamoto,S.
  TITLE     Identification of neuronal nuclei (NeuN) as Fox-3, a new member of
            the Fox-1 gene family of splicing factors
  JOURNAL   J Biol Chem 284 (45), 31052-31061 (2009)
   PUBMED   19713214
  REMARK    GeneRIF: NeuN (neuronal nuclei) is a neuron-specific nuclear
            protein identified by anti-NeuN antibody, and widely used as the
            postmitotic neuron marker. NeuN is identified as the Fox-3 gene
            product by mass spectrometry, immunoblotting, RNAi, and
            immunostaining.
REFERENCE   10 (bases 1 to 3163)
  AUTHORS   Underwood,J.G., Boutz,P.L., Dougherty,J.D., Stoilov,P. and
            Black,D.L.
  TITLE     Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal
            splicing regulators in mammals
  JOURNAL   Mol Cell Biol 25 (22), 10005-10016 (2005)
   PUBMED   16260614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233701.6, AC055858.18,
            AC020689.8, AC021534.19 and AC073624.28.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001350451.1.
            
            Summary: This gene encodes a member of the RNA-binding FOX protein
            family which is involved in the regulation of alternative splicing
            of pre-mRNA. The protein has an N-terminal proline-rich region, an
            RNA recognition motif (RRM) domain, and a C-terminal alanine-rich
            region. This gene produces the neuronal nuclei (NeuN) antigen that
            has been widely used as a marker for post-mitotic neurons. This
            gene has its highest expression in the central nervous system and
            plays a prominent role in neural tissue development and regulation
            of adult brain function. Mutations in this gene have been
            associated with numerous neurological disorders. Alternative
            splicing of this gene results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, May 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR3476690.968493.1,
                                           SRR3476690.56143.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000693108.1/ ENSP00000510395.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-226               AC233701.6         124379-124604
            227-371             AC055858.18        43075-43219
            372-472             AC020689.8         108171-108271
            473-512             AC021534.19        49495-49534
            513-767             AC021534.19        169552-169806
            768-905             AC021534.19        178512-178649
            906-959             AC021534.19        181174-181227
            960-1002            AC021534.19        182046-182088
            1003-1052           AC073624.28        1-50
            1053-1113           AC073624.28        1568-1628
            1114-1167           AC073624.28        5467-5520
            1168-1300           AC073624.28        5788-5920
            1301-1481           AC073624.28        6379-6559
            1482-1543           AC073624.28        7638-7699
            1544-1622           AC073624.28        8683-8761
            1623-3163           AC073624.28        12327-13867
FEATURES             Location/Qualifiers
     source          1..3163
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3163
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /note="RNA binding fox-1 homolog 3"
                     /db_xref="GeneID:146713"
                     /db_xref="HGNC:HGNC:27097"
                     /db_xref="MIM:616999"
     exon            1..226
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            227..371
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            372..472
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            473..512
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            513..767
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     CDS             546..1625
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /note="isoform 2 is encoded by transcript variant 2; fox-1
                     homolog C; hexaribonucleotide binding protein 3; neuN
                     antigen; neuronal nuclei antigen; RNA binding protein,
                     fox-1 homolog 3"
                     /codon_start=1
                     /product="RNA binding protein fox-1 homolog 3 isoform 2"
                     /protein_id="NP_001337380.1"
                     /db_xref="CCDS:CCDS92410.1"
                     /db_xref="GeneID:146713"
                     /db_xref="HGNC:HGNC:27097"
                     /db_xref="MIM:616999"
                     /translation="MAQPYPPAQYPPPPQNGIPAEYAPPPPHPTQDYSGQTPVPTEHG
                     MTLYTPAQTHPEQPGSEASTQPIAGTQTVPQTDEAAQTDSQPLHPSDPTEKQQPKRLH
                     VSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFETSSDADRAREKLNG
                     TIVEGRKIEVNNATARVMTNKKTGNPYTNGWKLNPVVGAVYGPEFYAVTGFPYPTTGT
                     AVAYRGAHLRGRGRAVYNTFRAAPPPPPIPTYGAALEQTLVKMPVPWAGLAPCPLPPQ
                     QTPEPAYPTSPAFPPLSCPFASRVVYQDGFYGAEIYGGYAAYRYAQPAAAAAAYSDSY
                     GRVYAAADPYHHTIGPAATYSIGTM"
     exon            768..905
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            906..959
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1052
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1113
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1167
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1300
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1481
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1482..1543
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..1622
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..3163
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3136..3141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /note="hexamer: AATAAA"
     polyA_site      3163
                     /gene="RBFOX3"
                     /gene_synonym="FOX-3; FOX3; HRNBP3; NEUN"
                     /note="major polyA site"
ORIGIN      
        1 agcagaacct cctcggacag cggccccagc cgggccccag cagctcgcgt ggtcggagga
       61 gaagcagctg ccacagctgc cgcccgagcc cggcctcgcg cgccccttgc cgctggctcg
      121 ccggtgcctg tgcggcccca ggacgccgct gcccgctcgg cggccgggat gcagccgggg
      181 catggccgcc ggcccccagt cacctgccgc ggggagcgct gagcccgttg aaattctgcc
      241 tctgagaagc taacagtctt cctgtggtcg ccactcctcc ccagcagccc cctccttgcc
      301 aaggacggtc cagaaggagc cccactgggg cctccccgct cagcaaagca gacctcacct
      361 cccactacca gcttgaagtc acagcagcca gaggaaattc tgccaccatt ttcccaggtc
      421 tgcagcccct ccagctggga acctgctcct ggagccatcc ctctgcaaac agagagccca
      481 gagtgcctcg gggaaaattg gctgaataaa agagcgatca ggacgccacg gctccgcctg
      541 aagcgatggc ccagccctac ccccccgccc agtacccccc tccgccacag aacggcatcc
      601 ctgccgagta cgccccgccc ccaccgcacc ccacgcagga ctactccggc cagaccccgg
      661 tccccacaga gcatggcatg accctgtaca caccagcaca gacccacccc gagcagccag
      721 gctccgaggc cagcacacag cccatcgccg ggacccagac agtgccgcag acagacgagg
      781 cggcacagac ggacagccag ccgctccacc cctccgaccc tacagagaag cagcagccca
      841 agcggctaca cgtctccaac atccccttcc ggttcaggga ccccgacttg cggcaaatgt
      901 tcgggcaatt cggaaaaatt ttagacgtgg agatcatttt taacgagcgg ggctccaagg
      961 gttttgggtt tgtaactttt gaaactagct cagatgctga ccgagcccgg gagaagctga
     1021 atgggacgat cgtagaggga cggaaaattg aggtcaataa tgccacggcc cgagtgatga
     1081 ccaacaagaa gacggggaac ccctacacca acggctggaa gctaaatcca gtggtcggcg
     1141 cagtctacgg gcctgaattc tatgcagtga cggggttccc ctaccccacc accggcacag
     1201 ccgttgccta ccggggcgca catcttcggg gccggggccg ggccgtgtat aatacatttc
     1261 gggctgcgcc acccccaccc cccatcccga cttacggagc ggcactggag caaacgcttg
     1321 ttaaaatgcc agtcccatgg gcggggctgg caccgtgccc cctccctcct cagcagacac
     1381 cggagccggc ctaccccacc tctccagcgt tcccaccact ttcttgtccg tttgcttcca
     1441 gggtcgtgta tcaggatgga ttttatggtg ctgagattta tggaggctac gcagcctaca
     1501 gatacgctca gcccgctgca gcggcggcag cctacagcga cagttacggc agagtctacg
     1561 cagctgccga cccgtaccat cacaccatcg ggcccgcggc gacctacagc attggaacca
     1621 tgtgaaacct tccaccgttt ccttctcgga ccatgaaggg caaaaacaaa aaaacaaaaa
     1681 aaatcacaaa acaaaaaaaa caaaaaaaga tgttaagatc caagcaacaa aaaaaaaacc
     1741 aaccaaacca agaggcatcc aaccaagtcc aagtcccgcg tcctggccac acgcccgcac
     1801 cgagggagca cgccggcagg ggcgccgagg agcggcccca ggacaggacg gccccaccgc
     1861 gtcctggctg gcagcacagt gggaacacgc ccctccgtct caggcagtgg gggagttgga
     1921 ggggaagggg cctcccttgt gggacccgtg gggggctctg ttttccatcc agtcttcctt
     1981 tcccagcccc caactcccaa gacagacagt gtggagccca gcggcggcgg agcaggcccg
     2041 ggcctgagca ggcaggcgct gctagcaaga cttgatcttt gtggccagct gtgccagggg
     2101 gccggcgggg ctgaggggtg cgggcagctt tcatcccagg ggctccactg ggccccgtca
     2161 ccctcctgtc gcgtcccctg cgtcccacct ccctcctgcc cggcagtccc gcccgtgccc
     2221 ccagcctggc gaggaagccg tccaacagta gccccggggc cagctcccaa cagaaagggc
     2281 tgacgtggct ccaggactca ggggcgctcc atgggaggac gaaggaagcc cagccagcca
     2341 ggagccactc ctcacacctc caagtgtggc caagtgggcc ctgaggccaa ggacttactt
     2401 gctcttcctg gccatctctc cctttctgga ggaggcccgg ggcctgtgta caccaaggct
     2461 gacctcgtgc tgcctgctgg gacccagccc tccctgccgc tcccctgtga gcccagtcca
     2521 ccgtgggcgc ccagggccag ggacgggcca gcgcccggct gcatcgcgag gttgggagtc
     2581 acagtggctg tgggcctgga cgggcacagc cagagcaggg gcccatggga agggcaaggg
     2641 atggggaagc ctgggccggc cccttccctg ctcccaaggc aggtgtccag gtggcgggag
     2701 cagcaccaag gacagccagg cttacccggt gggaggagca ggagcagagc aggtggcagg
     2761 gaggaacccc tggcgaggca gggagcactg aagtagggaa gcagcaaaaa atacaggctc
     2821 ccaacgtggc tccactgtct catgaagtgt caaaaattta aaaatacacc tcactttcta
     2881 ttcagcatca gctattgaaa tggaattctc cttttctatt cccgttgtac atagccccac
     2941 gccctgcctc cggctttgtc ctctgtacag agccccctgt cccctctgct gttccggacc
     3001 cttttcttgc agcagctcaa ccccccgact cactcagatc cccaggactg cagccgagcc
     3061 ccgggcttcc tttcttacca ttctgtatgc ttccaaggtg tgaccattca aactaacagt
     3121 attattaaga ttattaataa agatttcttt cttcaaacca gga
//
