LOCUS       NM_001415917            3925 bp    mRNA    linear   PRI 10-APR-2024
DEFINITION  Homo sapiens RNA binding fox-1 homolog 1 (RBFOX1), transcript
            variant 40, mRNA.
ACCESSION   NM_001415917 XM_047434251
VERSION     NM_001415917.1
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 3925)
  AUTHORS   Kostic,M., Raymond,J.J., Freyre,C.A.C., Henry,B., Tumkaya,T.,
            Khlghatyan,J., Dvornik,J., Li,J., Hsiao,J.S., Cheon,S.H., Chung,J.,
            Sun,Y., Dolmetsch,R.E., Worringer,K.A. and Ihry,R.J.
  TITLE     Patient Brain Organoids Identify a Link between the 16p11.2 Copy
            Number Variant and the RBFOX1 Gene
  JOURNAL   ACS Chem Neurosci 14 (22), 3993-4012 (2023)
   PUBMED   37903506
  REMARK    GeneRIF: Patient Brain Organoids Identify a Link between the
            16p11.2 Copy Number Variant and the RBFOX1 Gene.
REFERENCE   2  (bases 1 to 3925)
  AUTHORS   O'Leary,A., Fernandez-Castillo,N., Gan,G., Yang,Y., Yotova,A.Y.,
            Kranz,T.M., Grunewald,L., Freudenberg,F., Anton-Galindo,E.,
            Cabana-Dominguez,J., Harneit,A., Schweiger,J.I., Schwarz,K., Ma,R.,
            Chen,J., Schwarz,E., Rietschel,M., Tost,H., Meyer-Lindenberg,A.,
            Pane-Farre,C.A., Kircher,T., Hamm,A.O., Burguera,D., Mota,N.R.,
            Franke,B., Schweiger,S., Winter,J., Heinz,A., Erk,S.,
            Romanczuk-Seiferth,N., Walter,H., Strohle,A., Fehm,L., Fydrich,T.,
            Lueken,U., Weber,H., Lang,T., Gerlach,A.L., Nothen,M.M.,
            Alpers,G.W., Arolt,V., Witt,S., Richter,J., Straube,B., Cormand,B.,
            Slattery,D.A. and Reif,A.
  TITLE     Behavioural and functional evidence revealing the role of RBFOX1
            variation in multiple psychiatric disorders and traits
  JOURNAL   Mol Psychiatry 27 (11), 4464-4473 (2022)
   PUBMED   35948661
  REMARK    GeneRIF: Behavioural and functional evidence revealing the role of
            RBFOX1 variation in multiple psychiatric disorders and traits.
REFERENCE   3  (bases 1 to 3925)
  AUTHORS   Thibord,F., Chan,M.V., Chen,M.H. and Johnson,A.D.
  TITLE     A year of COVID-19 GWAS results from the GRASP portal reveals
            potential genetic risk factors
  JOURNAL   HGG Adv 3 (2), 100095 (2022)
   PUBMED   35224516
REFERENCE   4  (bases 1 to 3925)
  AUTHORS   Morini,A., Drossart,T., Timsit,M.O., Sibony,M., Vasiliu,V.,
            Gimenez-Roqueplo,A.P., Favier,J., Badoual,C., Mejean,A.,
            Burnichon,N. and Verkarre,V.
  TITLE     Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway
            genes and low expression of FOXI1
  JOURNAL   Mod Pathol 35 (3), 352-360 (2022)
   PUBMED   34531523
  REMARK    GeneRIF: Low-grade oncocytic renal tumor (LOT): mutations in mTOR
            pathway genes and low expression of FOXI1.
REFERENCE   5  (bases 1 to 3925)
  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 3925)
  AUTHORS   Ponthier,J.L., Schluepen,C., Chen,W., Lersch,R.A., Gee,S.L.,
            Hou,V.C., Lo,A.J., Short,S.A., Chasis,J.A., Winkelmann,J.C. and
            Conboy,J.G.
  TITLE     Fox-2 splicing factor binds to a conserved intron motif to promote
            inclusion of protein 4.1R alternative exon 16
  JOURNAL   J Biol Chem 281 (18), 12468-12474 (2006)
   PUBMED   16537540
  REMARK    GeneRIF: Fox-1 and Fox-2 splicing factors have roles in alternative
            splicing of protein 4.1R
REFERENCE   7  (bases 1 to 3925)
  AUTHORS   Auweter,S.D., Fasan,R., Reymond,L., Underwood,J.G., Black,D.L.,
            Pitsch,S. and Allain,F.H.
  TITLE     Molecular basis of RNA recognition by the human alternative
            splicing factor Fox-1
  JOURNAL   EMBO J 25 (1), 163-173 (2006)
   PUBMED   16362037
  REMARK    GeneRIF: These results demonstrate the unusual molecular mechanism
            of sequence-specific RNA recognition by Fox-1, which is exceptional
            in its high affinity for a defined but short sequence element.
REFERENCE   8  (bases 1 to 3925)
  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
  REMARK    GeneRIF: Fox-1 and Fox-2 isoforms specifically activate splicing of
            neuronally regulated exons, which requires UGCAUG enhancer elements
REFERENCE   9  (bases 1 to 3925)
  AUTHORS   Kiehl,T.R., Shibata,H., Vo,T., Huynh,D.P. and Pulst,S.M.
  TITLE     Identification and expression of a mouse ortholog of A2BP1
  JOURNAL   Mamm Genome 12 (8), 595-601 (2001)
   PUBMED   11471052
REFERENCE   10 (bases 1 to 3925)
  AUTHORS   Shibata,H., Huynh,D.P. and Pulst,S.M.
  TITLE     A novel protein with RNA-binding motifs interacts with ataxin-2
  JOURNAL   Hum Mol Genet 9 (9), 1303-1313 (2000)
   PUBMED   10814712
  REMARK    Erratum:[Hum Mol Genet 2000 Jul 22;9(12):1903]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC027683.6, AC005774.1 and
            KF456152.1.
            
            On Jan 5, 2023 this sequence version replaced XM_047434251.1.
            
            Summary: The Fox-1 family of RNA-binding proteins is evolutionarily
            conserved, and regulates tissue-specific alternative splicing in
            metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or
            in flanking introns. The protein binds to the C-terminus of
            ataxin-2 and may contribute to the restricted pathology of
            spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of
            the SCA2 gene which causes familial neurodegenerative diseases.
            Fox-1 and ataxin-2 are both localized in the trans-Golgi network.
            Several alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2011].
            
            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 :: SRR1803611.39011.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMN03465403
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-191               AC027683.6         11938-12128
            192-434             AC027683.6         19963-20205
            435-578             AC027683.6         81593-81736
            579-632             AC027683.6         89063-89116
            633-725             AC027683.6         97365-97457
            726-786             AC027683.6         99187-99247
            787-840             AC027683.6         109101-109154
            841-973             AC005774.1         118025-118157       c
            974-1013            AC005774.1         107004-107043       c
            1014-1078           AC005774.1         95134-95198         c
            1079-1131           AC005774.1         78605-78657         c
            1132-1207           KF456152.1         87-162
            1208-3925           AC005774.1         58632-61349         c
FEATURES             Location/Qualifiers
     source          1..3925
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3925
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /note="RNA binding fox-1 homolog 1"
                     /db_xref="GeneID:54715"
                     /db_xref="HGNC:HGNC:18222"
                     /db_xref="MIM:605104"
     exon            1..191
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1208
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /note="isoform 39 is encoded by transcript variant 40;
                     ataxin 2-binding protein 1; fox-1 homolog A; fox-1-like
                     RNA-binding protein 1; hexaribonucleotide-binding protein
                     1; RNA binding protein, fox-1 homolog 1"
                     /codon_start=1
                     /product="RNA binding protein fox-1 homolog 1 isoform 39"
                     /protein_id="NP_001402846.1"
                     /db_xref="GeneID:54715"
                     /db_xref="HGNC:HGNC:18222"
                     /db_xref="MIM:605104"
                     /translation="MEEKGSRMVQQGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYT
                     APHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDG
                     QPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGF
                     GFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVG
                     AVYSPEFYAVPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQ
                     DGFYGADIYGGYAAYRYAQPTPATAAAYSDRNQFVFVAADEISCNTSAVTDEFMLPTP
                     TTTHLLQPPPTALVP"
     exon            192..434
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            435..578
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            579..632
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            633..725
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            726..786
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            787..840
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            841..973
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1013
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1078
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1131
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1207
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..3925
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3901..3906
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /note="hexamer: AATAAA"
     polyA_site      3925
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /note="major polyA site"
ORIGIN      
        1 agatgttgag ggggaggtca gccaggcggc ctcagccccc caccttcctc aacaccccga
       61 tcatccacac attgcacagc gcgcacaccc tcgctcgtaa ttgaggcgtg cttggggcag
      121 atgctttgtg gtgtgggaca agaacagctg ctaagtttat ggaggagaaa ggaagcagga
      181 tggtgcagca gggtaatcag gaagcagccg ctgcccctga cacaatggct cagccttacg
      241 cttcggccca gtttgctccc ccgcagaacg gtatccccgc ggaatacacg gcccctcatc
      301 cccaccccgc gccagagtac acaggccaga ccacggttcc cgagcacaca ttaaacctgt
      361 accctcccgc ccagacgcac tccgagcaga gcccggcgga cacgagcgct cagaccgtct
      421 ctggcaccgc cacacagaca gatgacgcag caccgacgga tggccagccc cagacacaac
      481 cttctgaaaa cacggaaaac aagtctcagc ccaagcggct gcatgtctcc aatatcccct
      541 tcaggttccg ggatccggac ctcagacaaa tgtttggtca atttggtaaa atcttagatg
      601 ttgaaattat ttttaatgag cgaggctcaa agggatttgg tttcgtaact ttcgaaaata
      661 gtgccgatgc ggacagggcg agggagaaat tacacggcac cgtggtagag ggccgtaaaa
      721 tcgaggtaaa taatgccaca gcacgtgtaa tgacaaataa aaagaccgtc aacccttata
      781 caaatggctg gaaattgaat ccagttgtgg gtgcagtcta cagtcccgaa ttctatgcag
      841 tgccaggctt cccgtatcca gcagccaccg ccgcggccgc ctaccgaggg gcgcacctgc
      901 gaggccgcgg tcgcaccgtg tacaacacct tcagggccgc ggcgcccccg cccccgatcc
      961 cggcctacgg cggtgttgtt taccaggatg gattttatgg tgcagacatt tatggtggtt
     1021 atgctgcata ccgctacgcc cagcctaccc ctgccactgc cgctgcctac agtgacagaa
     1081 atcagttcgt cttcgttgca gcagatgaaa tttcttgtaa cacctctgca gttacggacg
     1141 agtttatgct gccgacccct accaccacgc acttgctcca gcccccacct acggcgttgg
     1201 tgccatgaat gcttttgcac ctttgactga tgccaagact aggagccatg ctgatgatgt
     1261 gggtctcgtt ctttcttcat tgcaggctag tatataccga gggggataca accgttttgc
     1321 tccatactaa atgacaaaac cataaaaacc ttccaatgtg gggagaaagg aagctttccg
     1381 aggcctgagt attgcaatac atgcagtagt acatcatttt agcaactcta aaaaaaaaaa
     1441 aaatacaaat aaaaaggaaa aaaaattaca ttttttatct tatacctcag atattttgtt
     1501 ctgtgtattt taatattgtg ggtctttaat ttctgaaggt tccgtagttt ggttgctggc
     1561 tgtaggagtt tttgtggttg atctagacag atgctagata atgaataaaa actggtttag
     1621 ggccatatcc agagtgctat attatgtaaa tgaattatat atgctgaata ttaagctact
     1681 ggggttatca gctatttggg aagagtgtaa gtgactacag tagtcatttt tttctgcacc
     1741 tgcattattt tattttgcga aaggggaggt tgggaggggc ttaggggatt ggaactgggg
     1801 tttggctgaa agaaaaaaaa aaaaatgtaa ctgatgaatc taaacgaccc actgcaccaa
     1861 caatcattta tcaatggttc taagttactc attgccagtt caagccaaag gtcatgttgt
     1921 taagggggtg cttctagtag cacttgtgca tctgagttga atgaagctgt gcaaacccac
     1981 cctttaaacc attccacccg gcagtattca gcttcttaac cagtcgctat ttaggaaaaa
     2041 aaacccacta gttaggccat caacaagcat tctttttata tttcttccag tataataaat
     2101 tattgatatc actgctgact tttatattat gggagggaaa aaataacatt aataaaaagg
     2161 tgataaaaaa gcactgtttc tatttttttc tttttttcca aaaaaagaaa gtaataaaaa
     2221 cttaaattct ttgtaccagt taaaaaaaat gtataaaatt tacatctgtg cagtggagtt
     2281 gttaagttct agaaacagtc tatgaagctt tagttttagc ctagtagaac aactgttaga
     2341 gacagacgta taatttttat ggaattacat gataatcata ttcggattta tagaagcatt
     2401 ttacaagtat tgcaatcatt gagtagagat aatcatggta ttttcatcag cttggtactt
     2461 tttgaaacgt gactgcgttg tgtgaacaat ctgcaatttt tcagtccgtg agatcctgcc
     2521 cttccacctc tttcccatac ccccaaggat tatctcaaaa tgatctcttt agttctgtct
     2581 ccaaggccca ggacacttgt cagaaggatg caaaaaaaga aaaaagtaca tccaccctct
     2641 taatcccaaa agaacaaagt ctccccacct ttctcggatg cagggccaga gtgacacagc
     2701 cgaaaaattg cagtttgtct gtacttctgt ttgaactttc cacgttgtcc tgtttacaag
     2761 ttaacttaag ttggggtatc cgtcacgggt cttcctgttt tgtatttaaa taaaaacaac
     2821 agcagcaggc tgtccctgag tagttttgct gccataggtt aagtcctcat gtgtacagtg
     2881 caggccctgt ggcccgcact tcagtaagtt atcaactctc accgctgtga acctgccaat
     2941 ccgctgtaac aactctgctt taaaacaaaa ccaaacaaaa ctttaaaaaa aaatgtgtga
     3001 tccagctttc tcttgccatc ctatgtgcat gccgtaagat cagttggata ttaaaccatc
     3061 aataaagttt cacaagattt gaaaacaaag tttctgtagc ttcgatacct aagacagacg
     3121 atagtgatct tgaaaagaga aaagggggag gggggagcta cttatcagcc aaaagcatat
     3181 aaagtgttct tttcaccaga cttctttggg tgggtgaggg gaggggcaag agggtgtttt
     3241 atagcatcac taagacattc tcattccccc acctggaaaa cagtgttatg gcaatgggtg
     3301 cctggttgat gttcttaaag gaaacgaatt attaaaacac tatgacatcc tccagaggga
     3361 agaaagagta ggagcagggg gctatggaga ataaatttct cccaattgcc gcctcagatt
     3421 tcaaaatcca gaatttgtat tgtgtttcga atcacaaaca tagaattctt actgtgttgg
     3481 ttaaagtaaa attcatttgc agttttgatt ttcatcaatg agctgtactt tcccccatga
     3541 ctgtatgtag ttttaataaa atcatttaga gtgagtgagt gccaaccgat gttgcagaat
     3601 cttttgtcta ggcactccaa gatgccaata agtcatttta aaatgtatgt cagagatgta
     3661 aacaaacatt ttggattttt tttaaacagt atttatttgg aatgttttca tttatctaaa
     3721 taactattgc tattatgaat tatggaaaat taatattatg tgtggcatat agtgacttct
     3781 taacacacac atcacgcaat ctgcaaaccc agaaaatgtg tatatctgtc tttagaaatt
     3841 agtgtttata tcacttacag tggtttgtga ataaagaaaa ctggtttgta atatcaaaaa
     3901 aataaaagct tagtctgaaa aggta
//
