RFOX3_HUMAN
ID RFOX3_HUMAN Reviewed; 312 AA.
AC A6NFN3; B4DEG6; B4DF29;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-FEB-2011, sequence version 4.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=RNA binding protein fox-1 homolog 3;
DE AltName: Full=Fox-1 homolog C;
DE AltName: Full=Neuronal nuclei antigen;
DE Short=NeuN antigen;
GN Name=RBFOX3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP SUBCELLULAR LOCATION.
RX PubMed=24215932; DOI=10.1016/j.neulet.2013.10.037;
RA Lucas C.H., Calvez M., Babu R., Brown A.;
RT "Altered subcellular localization of the NeuN/Rbfox3 RNA splicing factor in
RT HIV-associated neurocognitive disorders (HAND).";
RL Neurosci. Lett. 558:97-102(2014).
CC -!- FUNCTION: Pre-mRNA alternative splicing regulator. Regulates
CC alternative splicing of RBFOX2 to enhance the production of mRNA
CC species that are targeted for nonsense-mediated decay (NMD).
CC {ECO:0000250|UniProtKB:Q8BIF2}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24215932}. Cytoplasm
CC {ECO:0000269|PubMed:24215932}. Note=Largely restricted to neuronal
CC nuclei. However, significant cytoplasmic localization in neurons from
CC brains from HIV-infected individuals with cognitive impairment.
CC {ECO:0000269|PubMed:24215932}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A6NFN3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NFN3-2; Sequence=VSP_056241;
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DR EMBL; AK293617; BAG57077.1; -; mRNA.
DR EMBL; AK293905; BAG57290.1; -; mRNA.
DR EMBL; AC020689; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC021534; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC027824; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC055858; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC073624; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC142247; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS45805.1; -. [A6NFN3-1]
DR RefSeq; NP_001076044.1; NM_001082575.2. [A6NFN3-1]
DR RefSeq; XP_016879699.1; XM_017024210.1. [A6NFN3-1]
DR AlphaFoldDB; A6NFN3; -.
DR SMR; A6NFN3; -.
DR BioGRID; 127004; 41.
DR IntAct; A6NFN3; 6.
DR STRING; 9606.ENSP00000463653; -.
DR iPTMnet; A6NFN3; -.
DR PhosphoSitePlus; A6NFN3; -.
DR BioMuta; RBFOX3; -.
DR jPOST; A6NFN3; -.
DR MassIVE; A6NFN3; -.
DR MaxQB; A6NFN3; -.
DR PaxDb; A6NFN3; -.
DR PeptideAtlas; A6NFN3; -.
DR PRIDE; A6NFN3; -.
DR ProteomicsDB; 1060; -. [A6NFN3-1]
DR Antibodypedia; 32645; 460 antibodies from 38 providers.
DR DNASU; 146713; -.
DR Ensembl; ENST00000580155.5; ENSP00000463653.1; ENSG00000167281.20. [A6NFN3-1]
DR Ensembl; ENST00000584778.5; ENSP00000462007.1; ENSG00000167281.20. [A6NFN3-2]
DR GeneID; 146713; -.
DR KEGG; hsa:146713; -.
DR UCSC; uc010dhs.5; human. [A6NFN3-1]
DR CTD; 146713; -.
DR DisGeNET; 146713; -.
DR GeneCards; RBFOX3; -.
DR HGNC; HGNC:27097; RBFOX3.
DR HPA; ENSG00000167281; Tissue enhanced (brain, intestine, urinary bladder).
DR MalaCards; RBFOX3; -.
DR MIM; 616999; gene.
DR neXtProt; NX_A6NFN3; -.
DR OpenTargets; ENSG00000167281; -.
DR VEuPathDB; HostDB:ENSG00000167281; -.
DR eggNOG; KOG0125; Eukaryota.
DR GeneTree; ENSGT00940000159924; -.
DR HOGENOM; CLU_048440_0_0_1; -.
DR InParanoid; A6NFN3; -.
DR OrthoDB; 871288at2759; -.
DR PhylomeDB; A6NFN3; -.
DR TreeFam; TF315942; -.
DR PathwayCommons; A6NFN3; -.
DR SignaLink; A6NFN3; -.
DR SIGNOR; A6NFN3; -.
DR BioGRID-ORCS; 146713; 21 hits in 1068 CRISPR screens.
DR ChiTaRS; RBFOX3; human.
DR GenomeRNAi; 146713; -.
DR Pharos; A6NFN3; Tbio.
DR PRO; PR:A6NFN3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A6NFN3; protein.
DR Bgee; ENSG00000167281; Expressed in right hemisphere of cerebellum and 115 other tissues.
DR ExpressionAtlas; A6NFN3; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0007399; P:nervous system development; IBA:GO_Central.
DR GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IBA:GO_Central.
DR GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR CDD; cd12407; RRM_FOX1_like; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR025670; Fox-1_C_dom.
DR InterPro; IPR034237; FOX1_RRM.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR017325; RNA-bd_Fox-1.
DR InterPro; IPR000504; RRM_dom.
DR Pfam; PF12414; Fox-1_C; 1.
DR Pfam; PF00076; RRM_1; 1.
DR PIRSF; PIRSF037932; Ataxin_2_bd_A2BP; 1.
DR SMART; SM00360; RRM; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS50102; RRM; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Methylation; mRNA processing;
KW mRNA splicing; Nucleus; Reference proteome; RNA-binding.
FT CHAIN 1..312
FT /note="RNA binding protein fox-1 homolog 3"
FT /id="PRO_0000349207"
FT DOMAIN 100..175
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 1..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..33
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 34..92
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 100
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 108
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 109
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 133
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 138
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 142
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 166
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT SITE 176
FT /note="Interaction with RNA"
FT /evidence="ECO:0000250"
FT MOD_RES 223
FT /note="Asymmetric dimethylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q8BIF2"
FT MOD_RES 223
FT /note="Omega-N-methylarginine; alternate"
FT /evidence="ECO:0000250|UniProtKB:Q8BIF2"
FT MOD_RES 272
FT /note="Asymmetric dimethylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q8BIF2"
FT VAR_SEQ 312
FT /note="M -> MVRSPGPPSPGCQS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056241"
SQ SEQUENCE 312 AA; 33873 MW; 62D564F8A7862862 CRC64;
MAQPYPPAQY PPPPQNGIPA EYAPPPPHPT QDYSGQTPVP TEHGMTLYTP AQTHPEQPGS
EASTQPIAGT QTVPQTDEAA QTDSQPLHPS DPTEKQQPKR LHVSNIPFRF RDPDLRQMFG
QFGKILDVEI IFNERGSKGF GFVTFETSSD ADRAREKLNG TIVEGRKIEV NNATARVMTN
KKTGNPYTNG WKLNPVVGAV YGPEFYAVTG FPYPTTGTAV AYRGAHLRGR GRAVYNTFRA
APPPPPIPTY GAVVYQDGFY GAEIYGGYAA YRYAQPAAAA AAYSDSYGRV YAAADPYHHT
IGPAATYSIG TM
