RBM11_HUMAN
ID RBM11_HUMAN Reviewed; 281 AA.
AC P57052; Q6YNC2; Q8NBA1; Q8NFF6;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 1.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Splicing regulator RBM11 {ECO:0000305};
DE AltName: Full=RNA-binding motif protein 11;
GN Name=RBM11 {ECO:0000312|HGNC:HGNC:9897};
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 [MRNA] (ISOFORM 3), AND TISSUE SPECIFICITY.
RC TISSUE=Hypothalamus;
RX PubMed=12909339; DOI=10.1016/s0378-1119(03)00530-4;
RA Brun M.-E., Ruault M., Ventura M., Roizes G., De Sario A.;
RT "Juxtacentromeric region of human chromosome 21: a boundary between
RT centromeric heterochromatin and euchromatic chromosome arms.";
RL Gene 312:41-50(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Fetal brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 9-281, TISSUE SPECIFICITY, AND VARIANT
RP VAL-116.
RX PubMed=12036298; DOI=10.1006/geno.2002.6782;
RA Gardiner K., Slavov D., Bechtel L., Davisson M.;
RT "Annotation of human chromosome 21 for relevance to Down syndrome: gene
RT structure and expression analysis.";
RL Genomics 79:833-843(2002).
RN [6]
RP FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, RNA-BINDING, AND
RP SUBUNIT.
RX PubMed=21984414; DOI=10.1093/nar/gkr819;
RA Pedrotti S., Busa R., Compagnucci C., Sette C.;
RT "The RNA recognition motif protein RBM11 is a novel tissue-specific
RT splicing regulator.";
RL Nucleic Acids Res. 40:1021-1032(2012).
RN [7]
RP X-RAY CRYSTALLOGRAPHY (1.54 ANGSTROMS) OF 1-82.
RG RIKEN structural genomics initiative (RSGI);
RT "Crystal structure of RRM-domain derived from human putative RNA-binding
RT protein 11.";
RL Submitted (FEB-2009) to the PDB data bank.
CC -!- FUNCTION: Tissue-specific splicing factor with potential implication in
CC the regulation of alternative splicing during neuron and germ cell
CC differentiation. Antagonizes SRSF1-mediated BCL-X splicing. May affect
CC the choice of alternative 5' splice sites by binding to specific
CC sequences in exons and antagonizing the SR protein SRSF1.
CC {ECO:0000269|PubMed:21984414}.
CC -!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:21984414}.
CC -!- INTERACTION:
CC P57052; P26196: DDX6; NbExp=3; IntAct=EBI-741332, EBI-351257;
CC P57052; Q86UW9: DTX2; NbExp=3; IntAct=EBI-741332, EBI-740376;
CC P57052; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-741332, EBI-744099;
CC P57052; Q7L5A3: FAM214B; NbExp=3; IntAct=EBI-741332, EBI-745689;
CC P57052; P21333-2: FLNA; NbExp=3; IntAct=EBI-741332, EBI-9641086;
CC P57052; Q06547: GABPB1; NbExp=3; IntAct=EBI-741332, EBI-618165;
CC P57052; Q8TAE8: GADD45GIP1; NbExp=3; IntAct=EBI-741332, EBI-372506;
CC P57052; Q9BZE0: GLIS2; NbExp=3; IntAct=EBI-741332, EBI-7251368;
CC P57052; Q9NWQ4-1: GPATCH2L; NbExp=3; IntAct=EBI-741332, EBI-11959863;
CC P57052; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-741332, EBI-14103818;
CC P57052; O43464: HTRA2; NbExp=3; IntAct=EBI-741332, EBI-517086;
CC P57052; P42858: HTT; NbExp=9; IntAct=EBI-741332, EBI-466029;
CC P57052; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-741332, EBI-1055254;
CC P57052; P31153: MAT2A; NbExp=3; IntAct=EBI-741332, EBI-1050743;
CC P57052; Q9HB07: MYG1; NbExp=3; IntAct=EBI-741332, EBI-709754;
CC P57052; P19404: NDUFV2; NbExp=3; IntAct=EBI-741332, EBI-713665;
CC P57052; P29474: NOS3; NbExp=3; IntAct=EBI-741332, EBI-1391623;
CC P57052; Q8N2W9: PIAS4; NbExp=3; IntAct=EBI-741332, EBI-473160;
CC P57052; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-741332, EBI-14066006;
CC P57052; D3DTS7: PMP22; NbExp=3; IntAct=EBI-741332, EBI-25882629;
CC P57052; Q7Z5V6-2: PPP1R32; NbExp=3; IntAct=EBI-741332, EBI-12000762;
CC P57052; P41219: PRPH; NbExp=3; IntAct=EBI-741332, EBI-752074;
CC P57052; Q96PU8: QKI; NbExp=3; IntAct=EBI-741332, EBI-945792;
CC P57052; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-741332, EBI-748391;
CC P57052; P37840: SNCA; NbExp=3; IntAct=EBI-741332, EBI-985879;
CC P57052; P09012: SNRPA; NbExp=3; IntAct=EBI-741332, EBI-607085;
CC P57052; Q5TAL4: SNRPC; NbExp=3; IntAct=EBI-741332, EBI-10246938;
CC P57052; P26368-2: U2AF2; NbExp=3; IntAct=EBI-741332, EBI-11097439;
CC P57052; Q15911-2: ZFHX3; NbExp=3; IntAct=EBI-741332, EBI-10237226;
CC P57052; O75800: ZMYND10; NbExp=3; IntAct=EBI-741332, EBI-747061;
CC P57052; Q96IQ9: ZNF414; NbExp=3; IntAct=EBI-741332, EBI-744257;
CC P57052; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-741332, EBI-10251462;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:21984414}. Nucleus speckle
CC {ECO:0000269|PubMed:21984414}. Note=Enriched in SRSF2-containing
CC splicing speckles; shuttles between nucleoplasm and speckles.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P57052-1; Sequence=Displayed;
CC Name=3;
CC IsoId=P57052-3; Sequence=VSP_061576, VSP_061577;
CC -!- TISSUE SPECIFICITY: Expressed in brain, hippocampus, prefrontal cortex,
CC cerebellum, spinal cord, testis, mammary gland, spleen and kidney. Also
CC expressed in fetal brain. {ECO:0000269|PubMed:12036298,
CC ECO:0000269|PubMed:12909339, ECO:0000269|PubMed:21984414}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop CC codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30196.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAL82535.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAM75350.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
CC Sequence=BAC03638.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF519623; AAM75350.1; ALT_SEQ; mRNA.
DR EMBL; AK091331; BAC03638.1; ALT_FRAME; mRNA.
DR EMBL; AP001660; BAA95545.1; -; Genomic_DNA.
DR EMBL; BC030196; AAH30196.2; ALT_INIT; mRNA.
DR EMBL; AY077695; AAL82535.1; ALT_FRAME; mRNA.
DR CCDS; CCDS46635.1; -. [P57052-1]
DR RefSeq; NP_001307531.1; NM_001320602.1.
DR RefSeq; NP_658983.3; NM_144770.4. [P57052-1]
DR RefSeq; XP_016883874.1; XM_017028385.1.
DR RefSeq; XP_016883875.1; XM_017028386.1.
DR RefSeq; XP_016883876.1; XM_017028387.1.
DR PDB; 2YWK; X-ray; 1.54 A; A=1-82.
DR PDBsum; 2YWK; -.
DR AlphaFoldDB; P57052; -.
DR SMR; P57052; -.
DR BioGRID; 119845; 93.
DR IntAct; P57052; 46.
DR MINT; P57052; -.
DR STRING; 9606.ENSP00000383421; -.
DR iPTMnet; P57052; -.
DR PhosphoSitePlus; P57052; -.
DR BioMuta; RBM11; -.
DR DMDM; 9978670; -.
DR MassIVE; P57052; -.
DR PaxDb; P57052; -.
DR PeptideAtlas; P57052; -.
DR PRIDE; P57052; -.
DR Antibodypedia; 22166; 138 antibodies from 21 providers.
DR DNASU; 54033; -.
DR Ensembl; ENST00000400577.4; ENSP00000383421.3; ENSG00000185272.14. [P57052-1]
DR GeneID; 54033; -.
DR KEGG; hsa:54033; -.
DR MANE-Select; ENST00000400577.4; ENSP00000383421.3; NM_144770.5; NP_658983.3.
DR UCSC; uc002yjo.5; human. [P57052-1]
DR CTD; 54033; -.
DR DisGeNET; 54033; -.
DR GeneCards; RBM11; -.
DR HGNC; HGNC:9897; RBM11.
DR HPA; ENSG00000185272; Tissue enriched (epididymis).
DR MIM; 617937; gene.
DR neXtProt; NX_P57052; -.
DR OpenTargets; ENSG00000185272; -.
DR PharmGKB; PA34260; -.
DR VEuPathDB; HostDB:ENSG00000185272; -.
DR eggNOG; ENOG502RYIT; Eukaryota.
DR GeneTree; ENSGT00870000136493; -.
DR HOGENOM; CLU_1165534_0_0_1; -.
DR InParanoid; P57052; -.
DR OMA; MQFSPIN; -.
DR OrthoDB; 1298240at2759; -.
DR PhylomeDB; P57052; -.
DR TreeFam; TF323596; -.
DR PathwayCommons; P57052; -.
DR SignaLink; P57052; -.
DR BioGRID-ORCS; 54033; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; RBM11; human.
DR EvolutionaryTrace; P57052; -.
DR GeneWiki; RBM11; -.
DR GenomeRNAi; 54033; -.
DR Pharos; P57052; Tbio.
DR PRO; PR:P57052; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P57052; protein.
DR Bgee; ENSG00000185272; Expressed in corpus epididymis and 124 other tissues.
DR Genevisible; P57052; HS.
DR GO; GO:0016607; C:nuclear speck; IDA:MGI.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0008266; F:poly(U) RNA binding; IDA:MGI.
DR GO; GO:0042803; F:protein homodimerization activity; IDA:MGI.
DR GO; GO:0003727; F:single-stranded RNA binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0034599; P:cellular response to oxidative stress; IDA:MGI.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IDA:MGI.
DR GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR CDD; cd12593; RRM_RBM11; 1.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR034501; RBM11_RRM.
DR InterPro; IPR000504; RRM_dom.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Developmental protein; Differentiation;
KW mRNA processing; mRNA splicing; Nucleus; Reference proteome; RNA-binding.
FT CHAIN 1..281
FT /note="Splicing regulator RBM11"
FT /id="PRO_0000081769"
FT DOMAIN 10..87
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 184..281
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 245..280
FT /note="Bipartite nuclear localization signal"
FT /evidence="ECO:0000305"
FT COMPBIAS 186..221
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 33..50
FT /note="AGPLTKVTICKDREGKPK -> GVLALLNQLTKVLRAVLR (in isoform
FT 3)"
FT /id="VSP_061576"
FT VAR_SEQ 51..281
FT /note="Missing (in isoform 3)"
FT /id="VSP_061577"
FT VARIANT 116
FT /note="L -> V (in dbSNP:rs409782)"
FT /evidence="ECO:0000269|PubMed:12036298"
FT /id="VAR_024621"
FT CONFLICT 32
FT /note="Q -> QFLIG (in Ref. 2; BAC03638 and 5; AAL82535)"
FT /evidence="ECO:0000305"
FT HELIX 8..10
FT /evidence="ECO:0007829|PDB:2YWK"
FT STRAND 11..15
FT /evidence="ECO:0007829|PDB:2YWK"
FT HELIX 23..30
FT /evidence="ECO:0007829|PDB:2YWK"
FT HELIX 31..33
FT /evidence="ECO:0007829|PDB:2YWK"
FT STRAND 36..43
FT /evidence="ECO:0007829|PDB:2YWK"
FT STRAND 49..59
FT /evidence="ECO:0007829|PDB:2YWK"
FT HELIX 61..70
FT /evidence="ECO:0007829|PDB:2YWK"
SQ SEQUENCE 281 AA; 32179 MW; 0F9478888F6F1D98 CRC64;
MFPAQEEADR TVFVGNLEAR VREEILYELF LQAGPLTKVT ICKDREGKPK SFGFVCFKHP
ESVSYAIALL NGIRLYGRPI NVQYRFGSSR SSEPANQSFE SCVKINSHNY RNEEMLVGRS
SFPMQYFPIN NTSLPQEYFL FQKMQWHVYN PVLQLPYYEM TAPLPNSASV SSSLNHVPDL
EAGPSSYKWT HQQPSDSDLY QMTAPLPNSA SVSSSLNHVP DLEAGPSSYK WTHQQPSDSD
LYQMNKRKRQ KQTSDSDSST DNNRGNECSQ KFRKSKKKKR Y
