ID RBM46_HUMAN Reviewed; 533 AA.
AC Q8TBY0; B3KWU8; B4DZ27;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 24-JAN-2024, entry version 167.
DE RecName: Full=Probable RNA-binding protein 46;
DE AltName: Full=Cancer/testis antigen 68;
DE Short=CT68;
DE AltName: Full=RNA-binding motif protein 46;
GN Name=RBM46;
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 2 AND 3).
RC TISSUE=Testis;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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 (By similarity). Regulates mitotic-
CC to-meiotic transition in spermatogenesis by forming a complex with
CC MEIOC and YTHDC2 which recognizes and down-regulates mitotic
CC transcripts for a successful meiotic entry (By similarity). Required
CC for normal synaptonemal complex formation during meiosis, binding
CC meiotic cohesin subunit mRNAs containing GCCUAU/GUUCGA motifs in their
CC 3'UTRs regions and positively regulating their translation (By
CC similarity). Required for spermatogonial differentiation in both
CC developing and adult testis (By similarity).
CC {ECO:0000250|UniProtKB:P86049}.
CC -!- SUBUNIT: Interacts with YTHDC2, MEIOC, MOV10, CNOT6L, DDX4, UPF1 and
CC PABPC1. {ECO:0000250|UniProtKB:P86049}.
CC -!- INTERACTION:
CC Q8TBY0; P28329-3: CHAT; NbExp=3; IntAct=EBI-12068216, EBI-25837549;
CC Q8TBY0; P22607: FGFR3; NbExp=3; IntAct=EBI-12068216, EBI-348399;
CC Q8TBY0; O75593: FOXH1; NbExp=3; IntAct=EBI-12068216, EBI-1759806;
CC Q8TBY0; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-12068216, EBI-739467;
CC Q8TBY0; P06396: GSN; NbExp=3; IntAct=EBI-12068216, EBI-351506;
CC Q8TBY0; P01112: HRAS; NbExp=3; IntAct=EBI-12068216, EBI-350145;
CC Q8TBY0; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-12068216, EBI-11987469;
CC Q8TBY0; Q13148: TARDBP; NbExp=3; IntAct=EBI-12068216, EBI-372899;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P86049}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TBY0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBY0-2; Sequence=VSP_055251;
CC Name=3;
CC IsoId=Q8TBY0-3; Sequence=VSP_055252;
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DR EMBL; AK125877; BAG54260.1; -; mRNA.
DR EMBL; AK302720; BAG63939.1; -; mRNA.
DR EMBL; AC009567; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471056; EAX04902.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04903.1; -; Genomic_DNA.
DR EMBL; BC028588; AAH28588.1; -; mRNA.
DR CCDS; CCDS3790.1; -. [Q8TBY0-1]
DR CCDS; CCDS64085.1; -. [Q8TBY0-3]
DR CCDS; CCDS64086.1; -. [Q8TBY0-2]
DR RefSeq; NP_001264100.1; NM_001277171.1. [Q8TBY0-3]
DR RefSeq; NP_001264102.1; NM_001277173.1. [Q8TBY0-2]
DR RefSeq; NP_659416.1; NM_144979.4. [Q8TBY0-1]
DR RefSeq; XP_006714182.1; XM_006714119.2.
DR RefSeq; XP_006714183.1; XM_006714120.1. [Q8TBY0-2]
DR RefSeq; XP_011529994.1; XM_011531692.1. [Q8TBY0-1]
DR RefSeq; XP_011529995.1; XM_011531693.1. [Q8TBY0-1]
DR RefSeq; XP_011529996.1; XM_011531694.1. [Q8TBY0-1]
DR RefSeq; XP_011529997.1; XM_011531695.2. [Q8TBY0-1]
DR RefSeq; XP_011529998.1; XM_011531696.1. [Q8TBY0-1]
DR AlphaFoldDB; Q8TBY0; -.
DR SMR; Q8TBY0; -.
DR BioGRID; 127937; 10.
DR IntAct; Q8TBY0; 9.
DR STRING; 9606.ENSP00000281722; -.
DR GlyGen; Q8TBY0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8TBY0; -.
DR PhosphoSitePlus; Q8TBY0; -.
DR BioMuta; RBM46; -.
DR DMDM; 74760436; -.
DR EPD; Q8TBY0; -.
DR jPOST; Q8TBY0; -.
DR MassIVE; Q8TBY0; -.
DR MaxQB; Q8TBY0; -.
DR PaxDb; 9606-ENSP00000281722; -.
DR PeptideAtlas; Q8TBY0; -.
DR ProteomicsDB; 3801; -.
DR ProteomicsDB; 5566; -.
DR ProteomicsDB; 74047; -. [Q8TBY0-1]
DR Antibodypedia; 16839; 125 antibodies from 21 providers.
DR DNASU; 166863; -.
DR Ensembl; ENST00000281722.8; ENSP00000281722.3; ENSG00000151962.8. [Q8TBY0-1]
DR Ensembl; ENST00000510397.5; ENSP00000422813.1; ENSG00000151962.8. [Q8TBY0-2]
DR Ensembl; ENST00000514866.5; ENSP00000424500.1; ENSG00000151962.8. [Q8TBY0-3]
DR GeneID; 166863; -.
DR KEGG; hsa:166863; -.
DR MANE-Select; ENST00000281722.8; ENSP00000281722.3; NM_144979.5; NP_659416.1.
DR UCSC; uc003ioo.5; human. [Q8TBY0-1]
DR AGR; HGNC:28401; -.
DR CTD; 166863; -.
DR DisGeNET; 166863; -.
DR GeneCards; RBM46; -.
DR HGNC; HGNC:28401; RBM46.
DR HPA; ENSG00000151962; Tissue enriched (testis).
DR MIM; 620147; gene.
DR neXtProt; NX_Q8TBY0; -.
DR OpenTargets; ENSG00000151962; -.
DR PharmGKB; PA162400810; -.
DR VEuPathDB; HostDB:ENSG00000151962; -.
DR eggNOG; KOG0117; Eukaryota.
DR GeneTree; ENSGT00940000155927; -.
DR HOGENOM; CLU_022960_5_0_1; -.
DR InParanoid; Q8TBY0; -.
DR OMA; QSYFMPE; -.
DR OrthoDB; 3184171at2759; -.
DR PhylomeDB; Q8TBY0; -.
DR TreeFam; TF314932; -.
DR PathwayCommons; Q8TBY0; -.
DR SignaLink; Q8TBY0; -.
DR BioGRID-ORCS; 166863; 11 hits in 1150 CRISPR screens.
DR GenomeRNAi; 166863; -.
DR Pharos; Q8TBY0; Tbio.
DR PRO; PR:Q8TBY0; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8TBY0; Protein.
DR Bgee; ENSG00000151962; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 62 other cell types or tissues.
DR ExpressionAtlas; Q8TBY0; baseline and differential.
DR Genevisible; Q8TBY0; HS.
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:0051728; P:cell cycle switching, mitotic to meiotic cell cycle; ISS:UniProtKB.
DR GO; GO:0007143; P:female meiotic nuclear division; ISS:UniProtKB.
DR GO; GO:0007140; P:male meiotic nuclear division; ISS:UniProtKB.
DR GO; GO:0048255; P:mRNA stabilization; IEA:Ensembl.
DR GO; GO:0048477; P:oogenesis; ISS:UniProtKB.
DR GO; GO:0048515; P:spermatid differentiation; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR GO; GO:0001829; P:trophectodermal cell differentiation; IEA:Ensembl.
DR CDD; cd19901; DSRM_RBM46; 1.
DR CDD; cd12484; RRM1_RBM46; 1.
DR CDD; cd12492; RRM2_RBM46; 1.
DR CDD; cd12496; RRM3_RBM46; 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; IPR044462; RBM46_DSR.
DR InterPro; IPR034434; RBM46_RRM1.
DR InterPro; IPR034435; RBM46_RRM2.
DR InterPro; IPR047837; RBM46_RRM3.
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; SSF54928; RNA-binding domain, RBD; 3.
DR PROSITE; PS50102; RRM; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Differentiation; Meiosis; Oogenesis;
KW Reference proteome; Repeat; RNA-binding; Spermatogenesis.
FT CHAIN 1..533
FT /note="Probable RNA-binding protein 46"
FT /id="PRO_0000305315"
FT DOMAIN 61..139
FT /note="RRM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 141..223
FT /note="RRM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 236..308
FT /note="RRM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT VAR_SEQ 468..533
FT /note="DYNFHRSSINSLSPVSATLSSGTPSVLPYTSRPYSYPGYPLSPTISLANGSH
FT VGQRLCISNQASFF -> GPF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055251"
FT VAR_SEQ 469..533
FT /note="YNFHRSSINSLSPVSATLSSGTPSVLPYTSRPYSYPGYPLSPTISLANGSHV
FT GQRLCISNQASFF -> REHNLFSLDLCRRIWRK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055252"
SQ SEQUENCE 533 AA; 60023 MW; A466A5AA76CD8BBE CRC64;
MNEENIDGTN GCSKVRTGIQ NEAALLALME KTGYNMVQEN GQRKFGGPPP GWEGPPPPRG
CEVFVGKIPR DMYEDELVPV FERAGKIYEF RLMMEFSGEN RGYAFVMYTT KEEAQLAIRI
LNNYEIRPGK FIGVCVSLDN CRLFIGAIPK EKKKEEILDE MKKVTEGVVD VIVYPSATDK
TKNRGFAFVE YESHRAAAMA RRKLIPGTFQ LWGHTIQVDW ADPEKEVDEE TMQRVKVLYV
RNLMISTTEE TIKAEFNKFK PGAVERVKKL RDYAFVHFFN REDAVAAMSV MNGKCIDGAS
IEVTLAKPVN KENTWRQHLN GQISPNSENL IVFANKEESH PKTLGKLPTL PARLNGQHSP
SPPEVERCTY PFYPGTKLTP ISMYSLKSNH FNSAVMHLDY YCNKNNWAPP EYYLYSTTSQ
DGKVLLVYKI VIPAIANGSQ SYFMPDKLCT TLEDAKELAA QFTLLHLDYN FHRSSINSLS
PVSATLSSGT PSVLPYTSRP YSYPGYPLSP TISLANGSHV GQRLCISNQA SFF
//
