LOCUS       NP_061193                397 aa            linear   PRI 28-APR-2025
DEFINITION  RNA binding protein fox-1 homolog 1 isoform 4 [Homo sapiens].
ACCESSION   NP_061193
VERSION     NP_061193.2
DBSOURCE    REFSEQ: accession NM_018723.4
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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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  (residues 1 to 397)
  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 (residues 1 to 397)
  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 AC009135.12, AB208826.1,
            AF107203.1 and AC005774.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 29, 2002 this sequence version replaced NP_061193.1.
            
            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].
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            lacks an in-frame section of the 3' coding region, compared to
            variant 1. This results in a shorter isoform (4) with an alternate
            N-terminus compared to isoform 1. Variants 4 and 6 both encode
            isoform 4.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript 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##
            CDS exon combination :: SRR1660805.346134.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145743, SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000550418.6/ ENSP00000450031.1
            RefSeq Select criteria :: based on manual assertion
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..397
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     Protein         1..397
                     /product="RNA binding protein fox-1 homolog 1 isoform 4"
                     /note="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"
                     /calculated_mol_wt=42653
     Region          1..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Region          11..>177
                     /region_name="Agg_substance"
                     /note="LPXTG-anchored aggregation substance; NF033875"
                     /db_xref="CDD:411439"
     Region          96..101
                     /region_name="RNA binding motif RNP-2"
     Region          117..192
                     /region_name="RRM_FOX1_like"
                     /note="RNA recognition motif (RRM) found in vertebrate RNA
                     binding protein fox-1 homologs and similar proteins;
                     cd12407"
                     /db_xref="CDD:409841"
     Site            order(118,120,122..127,147..151,153..158,160,184,189..192)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:409841"
     Site            118
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            126
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            127
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Region          130..136
                     /region_name="RNA binding motif RNP-1"
     Site            151
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            156
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            160
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            184
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            194
                     /site_type="other"
                     /note="Interaction with RNA; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Region          253..342
                     /region_name="Fox-1_C"
                     /note="Calcitonin gene-related peptide regulator C
                     terminal; pfam12414"
                     /db_xref="CDD:463568"
     Site            317
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9JJ43; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     Site            388
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9JJ43; propagated from
                     UniProtKB/Swiss-Prot (Q9NWB1.2)"
     CDS             1..397
                     /gene="RBFOX1"
                     /gene_synonym="2BP1; A2BP1; FOX-1; FOX1; HRNBP1"
                     /coded_by="NM_018723.4:1096..2289"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="CCDS:CCDS55983.1"
                     /db_xref="GeneID:54715"
                     /db_xref="HGNC:HGNC:18222"
                     /db_xref="MIM:605104"
ORIGIN      
        1 mncereqlrg nqeaaaapdt maqpyasaqf appqngipae ytaphphpap eytgqttvpe
       61 htlnlyppaq thseqspadt saqtvsgtat qtddaaptdg qpqtqpsent enksqpkrlh
      121 vsnipfrfrd pdlrqmfgqf gkildveiif nergskgfgf vtfensadad rareklhgtv
      181 vegrkievnn atarvmtnkk tvnpytngwk lnpvvgavys pefyagtvll cqanqegssm
      241 ysapsslvyt sampgfpypa ataaaayrga hlrgrgrtvy ntfraaappp pipayggvvy
      301 qdgfygadiy ggyaayryaq ptpataaays dsygrvyaad pyhhalapap tygvgamnaf
      361 apltdaktrs haddvglvls slqasiyrgg ynrfapy
//
