ID RBM46_DANRE Reviewed; 510 AA.
AC Q08BH5;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 1.
DT 27-MAR-2024, entry version 83.
DE RecName: Full=Probable RNA-binding protein 46;
DE AltName: Full=RNA-binding motif protein 46;
GN Name=rbm46; ORFNames=zgc:153695;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, ALTERNATIVE SPLICING (ISOFORMS 1 AND 2),
RP AND TISSUE SPECIFICITY (ISOFORMS 1 AND 2).
RX PubMed=33524105; DOI=10.1093/biolre/ioab016;
RA Dai X., Cheng X., Huang J., Gao Y., Wang D., Feng Z., Zhai G., Lou Q.,
RA He J., Wang Z., Yin Z.;
RT "Rbm46, a novel germ cell-specific factor, modulates meiotic progression
RT and spermatogenesis.";
RL Biol. Reprod. 104:1139-1153(2021).
CC -!- FUNCTION: Essential for male and female fertility, playing a crucial
CC role in regulating germ cell development by ensuring the proper
CC progression of meiosis prophase I. {ECO:0000269|PubMed:33524105}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P86049}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=rbm46-201 {ECO:0000303|PubMed:33524105};
CC IsoId=Q08BH5-1; Sequence=Displayed;
CC Name=2; Synonyms=rbm46-203 {ECO:0000303|PubMed:33524105};
CC IsoId=Q08BH5-2; Sequence=VSP_061946;
CC -!- TISSUE SPECIFICITY: [Isoform 1]: Expressed in the testis and ovary.
CC {ECO:0000269|PubMed:33524105}.
CC -!- TISSUE SPECIFICITY: [Isoform 2]: Expressed in the testis and ovary.
CC {ECO:0000269|PubMed:33524105}.
CC -!- DISRUPTION PHENOTYPE: TALEN-mediated rbm46 gene inactivation leads to
CC female-male sex reversal during the sex determination stage and
CC infertility with failure of spermatogenesis. The testis of mutant males
CC have germ cells that are almost morphologically identical to
CC spermatogonia or are spermatogonia-like but exhibit almost complete
CC absence of germ cells beyond the spermatogonial stage. Oocytes fail to
CC progress through meiosis to develop juvenile ovaries.
CC {ECO:0000269|PubMed:33524105}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; BC124720; AAI24721.1; -; mRNA.
DR EMBL; CU861508; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_001073493.2; NM_001080024.2.
DR AlphaFoldDB; Q08BH5; -.
DR SMR; Q08BH5; -.
DR STRING; 7955.ENSDARP00000099341; -.
DR PaxDb; 7955-ENSDARP00000099341; -.
DR GeneID; 566042; -.
DR KEGG; dre:566042; -.
DR AGR; ZFIN:ZDB-GENE-061013-298; -.
DR CTD; 166863; -.
DR ZFIN; ZDB-GENE-061013-298; rbm46.
DR eggNOG; KOG0117; Eukaryota.
DR InParanoid; Q08BH5; -.
DR OrthoDB; 3184171at2759; -.
DR PhylomeDB; Q08BH5; -.
DR PRO; PR:Q08BH5; -.
DR Proteomes; UP000000437; Chromosome 1.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR GO; GO:0048477; P:oogenesis; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR CDD; cd12484; RRM1_RBM46; 1.
DR CDD; cd12492; RRM2_RBM46; 1.
DR CDD; cd12498; RRM3_ACF; 1.
DR Gene3D; 3.30.160.20; -; 1.
DR Gene3D; 3.30.70.330; -; 3.
DR InterPro; IPR006535; HnRNP_R/Q_splicing_fac.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR034434; RBM46_RRM1.
DR InterPro; IPR034435; RBM46_RRM2.
DR InterPro; IPR000504; RRM_dom.
DR NCBIfam; TIGR01648; hnRNP-R-Q; 1.
DR PANTHER; PTHR21245; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; 1.
DR PANTHER; PTHR21245:SF3; RNA-BINDING PROTEIN 46-RELATED; 1.
DR Pfam; PF14709; DND1_DSRM; 1.
DR Pfam; PF00076; RRM_1; 3.
DR SMART; SM00360; RRM; 3.
DR SUPFAM; SSF54768; dsRNA-binding domain-like; 1.
DR SUPFAM; SSF54928; RNA-binding domain, RBD; 3.
DR PROSITE; PS50102; RRM; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Differentiation; Meiosis; Oogenesis;
KW Reference proteome; Repeat; RNA-binding; Spermatogenesis.
FT CHAIN 1..510
FT /note="Probable RNA-binding protein 46"
FT /id="PRO_0000305317"
FT DOMAIN 45..123
FT /note="RRM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 125..207
FT /note="RRM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 220..292
FT /note="RRM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 23..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MDERSSQPSDNSRM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:33524105"
FT /id="VSP_061946"
SQ SEQUENCE 510 AA; 56959 MW; 709BCCA022A04B40 CRC64;
MDSSKEAALL ALMDRTGYSM VQENGQRKFG GPPPGWEGPP PPRGREVFVG KIPRDMYEDE
LVPVFEQAGH IYEFRLMMEF SGENRGYAFV MYTTREKAQR AIQLLDNYEI RPGKFIGVCV
SLDNCRLFIG SIPKDKKKEE IQEEMMKVTE GVMDVIVYPS AVDRMKNRGF AFVEYESHKA
AAMARRKLIP GTFQLWGHTI QVDWAEPEKE LDEETMQRVR VLYVRNLMLS TTEETLRSEF
SQLKPGSVER VKKLTDYAFI HFYNREDALT ALESMNGKVI DGSPIEVTLA KPASKDGNKR
FGPRNCHNGV TAAGGYGDSN FLFRTRNDMT IGAMGNGLNA HALSLPYAVD LDRCVYPFLP
GSTLVPVSLN TVKPSQLSSA VSLLDYYCHK NDWSLPEYHL YSLAGQEGKV MLIYKVVISS
TRRSFMPDKV CTILEDAKEL AAQNALWNLD CSSGSSLNVS PPAPSGSGFL SFGCRSLPYP
AYPMASISPP LPISCSSAQR LFIPNQSSFL
//
