Full text data of RPL11
RPL11
[Confidence: low (only semi-automatic identification from reviews)]
60S ribosomal protein L11 (CLL-associated antigen KW-12)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
60S ribosomal protein L11 (CLL-associated antigen KW-12)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P62913
ID RL11_HUMAN Reviewed; 178 AA.
AC P62913; P25121; P39026; Q8TDH2; Q9Y674;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 99.
DE RecName: Full=60S ribosomal protein L11;
DE AltName: Full=CLL-associated antigen KW-12;
GN Name=RPL11;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7748210;
RA Mishin V.P., Filipenko M.L., Muravlev A.I., Karpova G.G.,
RA Mertvetsov N.P.;
RT "Cloning and determination of the primary structure of DNA
RT complementary to the mRNA of human ribosomal protein L11.";
RL Bioorg. Khim. 21:158-160(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Bhat K.S.;
RT "Expressed sequence tags from a human cell line.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12815950;
RA Voronina E.N., Kolokol'tsova T.D., Nechaeva E.A., Filipenko M.L.;
RT "Structural and functional analysis of the human ribosomal protein L11
RT gene.";
RL Mol. Biol. (Mosk.) 37:425-435(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Tonsil;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PROTEIN SEQUENCE OF 2-13; 89-95; 119-145 AND 157-164, CLEAVAGE OF
RP INITIATOR METHIONINE, ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RA Quadroni M., Bienvenut W.V.;
RL Submitted (NOV-2005) to UniProtKB.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 3-178 (ISOFORM 1).
RA Krackhardt A.M., Witzens M., Harig S., Hodi F.S., Zauls A.J.,
RA Chessia M., Barrett P., Gribben J.G.;
RT "Identification of novel tumor antigens in CLL by SEREX: assessment of
RT their potential as targets for immunotherapeutic approaches.";
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 17-52.
RX PubMed=9582194;
RA Kenmochi N., Kawaguchi T., Rozen S., Davis E., Goodman N.,
RA Hudson T.J., Tanaka T., Page D.C.;
RT "A map of 75 human ribosomal protein genes.";
RL Genome Res. 8:509-523(1998).
RN [8]
RP MASS SPECTROMETRY, AND ACETYLATION AT ALA-2.
RX PubMed=12962325; DOI=10.1023/A:1025068419698;
RA Odintsova T.I., Muller E.C., Ivanov A.V., Egorov T.A., Bienert R.,
RA Vladimirov S.N., Kostka S., Otto A., Wittmann-Liebold B.,
RA Karpova G.G.;
RT "Characterization and analysis of posttranslational modifications of
RT the human large cytoplasmic ribosomal subunit proteins by mass
RT spectrometry and Edman sequencing.";
RL J. Protein Chem. 22:249-258(2003).
RN [9]
RP FUNCTION, AND VARIANT DBA7 GLU-161 DEL.
RX PubMed=19061985; DOI=10.1016/j.ajhg.2008.11.004;
RA Gazda H.T., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.-F.,
RA Schneider H., Darras N., Hasman C., Sieff C.A., Newburger P.E.,
RA Ball S.E., Niewiadomska E., Matysiak M., Zaucha J.M., Glader B.,
RA Niemeyer C., Meerpohl J.J., Atsidaftos E., Lipton J.M., Gleizes P.-E.,
RA Beggs A.H.;
RT "Ribosomal protein L5 and L11 mutations are associated with cleft
RT palate and abnormal thumbs in Diamond-Blackfan anemia patients.";
RL Am. J. Hum. Genet. 83:769-780(2008).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-44, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-52 AND LYS-85, AND MASS
RP SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [12]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [13]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, AND MASS SPECTROMETRY.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [14]
RP STRUCTURE BY ELECTRON MICROSCOPY (5.0 ANGSTROMS) OF 80S RIBOSOME.
RX PubMed=23636399; DOI=10.1038/nature12104;
RA Anger A.M., Armache J.P., Berninghausen O., Habeck M., Subklewe M.,
RA Wilson D.N., Beckmann R.;
RT "Structures of the human and Drosophila 80S ribosome.";
RL Nature 497:80-85(2013).
RN [15]
RP VARIANT DBA7 HIS-20.
RX PubMed=19191325; DOI=10.1002/humu.20874;
RA Cmejla R., Cmejlova J., Handrkova H., Petrak J., Petrtylova K.,
RA Mihal V., Stary J., Cerna Z., Jabali Y., Pospisilova D.;
RT "Identification of mutations in the ribosomal protein L5 (RPL5) and
RT ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-
RT Blackfan anemia.";
RL Hum. Mutat. 30:321-327(2009).
CC -!- FUNCTION: Binds to 5S ribosomal RNA (By similarity). Required for
CC rRNA maturation and formation of the 60S ribosomal subunits.
CC Promotes nucleolar location of PML (By similarity).
CC -!- SUBUNIT: Interacts with PML and MDM2 (By similarity).
CC -!- INTERACTION:
CC Q00987:MDM2; NbExp=11; IntAct=EBI-354380, EBI-389668;
CC P01106:MYC; NbExp=3; IntAct=EBI-354380, EBI-447544;
CC Q15843:NEDD8; NbExp=4; IntAct=EBI-354380, EBI-716247;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus (By similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P62913-1, P39026-1;
CC Sequence=Displayed;
CC Name=2;
CC IsoId=P62913-2, P39026-2;
CC Sequence=VSP_008320;
CC -!- DISEASE: Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]: A form of
CC Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic
CC anemia that usually presents early in infancy. Diamond-Blackfan
CC anemia is characterized by a moderate to severe macrocytic anemia,
CC erythroblastopenia, and an increased risk of malignancy. 30 to 40%
CC of Diamond-Blackfan anemia patients present with short stature and
CC congenital anomalies, the most frequent being craniofacial
CC (Pierre-Robin syndrome and cleft palate), thumb and urogenital
CC anomalies. Note=The disease is caused by mutations affecting the
CC gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribosomal protein L5P family.
CC -!- WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database;
CC URL="http://www.dbagenes.unito.it/home.php?select_db=RPL11";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X79234; CAA55816.1; -; mRNA.
DR EMBL; L05092; AAC15856.1; -; mRNA.
DR EMBL; AF101385; AAD20460.3; -; Genomic_DNA.
DR EMBL; BC018970; AAH18970.1; -; mRNA.
DR EMBL; AF432212; AAL99919.1; -; mRNA.
DR EMBL; AB007171; BAA25831.1; -; Genomic_DNA.
DR PIR; S45049; S45049.
DR RefSeq; NP_000966.2; NM_000975.3.
DR RefSeq; NP_001186731.1; NM_001199802.1.
DR UniGene; Hs.719951; -.
DR PDB; 3J3B; EM; 5.00 A; J=1-178.
DR PDBsum; 3J3B; -.
DR ProteinModelPortal; P62913; -.
DR SMR; P62913; 9-176.
DR IntAct; P62913; 30.
DR MINT; MINT-1140097; -.
DR STRING; 9606.ENSP00000363676; -.
DR PhosphoSite; P62913; -.
DR DMDM; 51702795; -.
DR SWISS-2DPAGE; P62913; -.
DR PaxDb; P62913; -.
DR PRIDE; P62913; -.
DR DNASU; 6135; -.
DR Ensembl; ENST00000374550; ENSP00000363676; ENSG00000142676.
DR GeneID; 6135; -.
DR KEGG; hsa:6135; -.
DR UCSC; uc001bhk.3; human.
DR CTD; 6135; -.
DR GeneCards; GC01P024018; -.
DR HGNC; HGNC:10301; RPL11.
DR HPA; HPA002734; -.
DR MIM; 604175; gene.
DR MIM; 612562; phenotype.
DR neXtProt; NX_P62913; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34664; -.
DR eggNOG; COG0094; -.
DR HOGENOM; HOG000231312; -.
DR HOVERGEN; HBG055214; -.
DR InParanoid; P62913; -.
DR KO; K02868; -.
DR OMA; EDTMAWF; -.
DR OrthoDB; EOG7ZPNMB; -.
DR PhylomeDB; P62913; -.
DR Reactome; REACT_116125; Disease.
DR Reactome; REACT_17015; Metabolism of proteins.
DR Reactome; REACT_1762; 3' -UTR-mediated translational regulation.
DR Reactome; REACT_21257; Metabolism of RNA.
DR Reactome; REACT_71; Gene Expression.
DR ChiTaRS; RPL11; human.
DR GeneWiki; RPL11; -.
DR GenomeRNAi; 6135; -.
DR NextBio; 23831; -.
DR PMAP-CutDB; P62913; -.
DR PRO; PR:P62913; -.
DR ArrayExpress; P62913; -.
DR Bgee; P62913; -.
DR CleanEx; HS_RPL11; -.
DR Genevestigator; P62913; -.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; TAS:ProtInc.
DR GO; GO:0019843; F:rRNA binding; IEA:UniProtKB-KW.
DR GO; GO:0003735; F:structural constituent of ribosome; NAS:UniProtKB.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0034504; P:protein localization to nucleus; ISS:UniProtKB.
DR GO; GO:0042273; P:ribosomal large subunit biogenesis; IMP:UniProtKB.
DR GO; GO:0006364; P:rRNA processing; IMP:UniProtKB.
DR GO; GO:0006614; P:SRP-dependent cotranslational protein targeting to membrane; TAS:Reactome.
DR GO; GO:0006414; P:translational elongation; TAS:Reactome.
DR GO; GO:0006413; P:translational initiation; TAS:Reactome.
DR GO; GO:0006415; P:translational termination; TAS:Reactome.
DR GO; GO:0019083; P:viral transcription; TAS:Reactome.
DR Gene3D; 3.30.1440.10; -; 1.
DR InterPro; IPR002132; Ribosomal_L5.
DR InterPro; IPR020929; Ribosomal_L5_CS.
DR InterPro; IPR022803; Ribosomal_L5_domain.
DR PANTHER; PTHR11994; PTHR11994; 1.
DR Pfam; PF00281; Ribosomal_L5; 1.
DR Pfam; PF00673; Ribosomal_L5_C; 1.
DR PIRSF; PIRSF002161; Ribosomal_L5; 1.
DR SUPFAM; SSF55282; SSF55282; 1.
DR PROSITE; PS00358; RIBOSOMAL_L5; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Alternative splicing; Complete proteome;
KW Diamond-Blackfan anemia; Direct protein sequencing; Disease mutation;
KW Nucleus; Phosphoprotein; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein; RNA-binding; rRNA-binding.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 178 60S ribosomal protein L11.
FT /FTId=PRO_0000125082.
FT MOD_RES 2 2 N-acetylalanine.
FT MOD_RES 44 44 Phosphothreonine.
FT MOD_RES 52 52 N6-acetyllysine.
FT MOD_RES 85 85 N6-acetyllysine.
FT VAR_SEQ 3 3 Missing (in isoform 2).
FT /FTId=VSP_008320.
FT VARIANT 20 20 L -> H (in DBA7).
FT /FTId=VAR_055448.
FT VARIANT 161 161 Missing (in DBA7).
FT /FTId=VAR_055449.
FT CONFLICT 31 31 D -> G (in Ref. 1; CAA55816).
FT CONFLICT 73 73 T -> A (in Ref. 1; CAA55816).
FT CONFLICT 92 92 Y -> L (in Ref. 1; CAA55816).
FT CONFLICT 118 118 K -> E (in Ref. 1; CAA55816).
SQ SEQUENCE 178 AA; 20252 MW; 26EC965C9239774E CRC64;
MAQDQGEKEN PMRELRIRKL CLNICVGESG DRLTRAAKVL EQLTGQTPVF SKARYTVRSF
GIRRNEKIAV HCTVRGAKAE EILEKGLKVR EYELRKNNFS DTGNFGFGIQ EHIDLGIKYD
PSIGIYGLDF YVVLGRPGFS IADKKRRTGC IGAKHRISKE EAMRWFQQKY DGIILPGK
//
ID RL11_HUMAN Reviewed; 178 AA.
AC P62913; P25121; P39026; Q8TDH2; Q9Y674;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 99.
DE RecName: Full=60S ribosomal protein L11;
DE AltName: Full=CLL-associated antigen KW-12;
GN Name=RPL11;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7748210;
RA Mishin V.P., Filipenko M.L., Muravlev A.I., Karpova G.G.,
RA Mertvetsov N.P.;
RT "Cloning and determination of the primary structure of DNA
RT complementary to the mRNA of human ribosomal protein L11.";
RL Bioorg. Khim. 21:158-160(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Bhat K.S.;
RT "Expressed sequence tags from a human cell line.";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12815950;
RA Voronina E.N., Kolokol'tsova T.D., Nechaeva E.A., Filipenko M.L.;
RT "Structural and functional analysis of the human ribosomal protein L11
RT gene.";
RL Mol. Biol. (Mosk.) 37:425-435(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Tonsil;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PROTEIN SEQUENCE OF 2-13; 89-95; 119-145 AND 157-164, CLEAVAGE OF
RP INITIATOR METHIONINE, ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RA Quadroni M., Bienvenut W.V.;
RL Submitted (NOV-2005) to UniProtKB.
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 3-178 (ISOFORM 1).
RA Krackhardt A.M., Witzens M., Harig S., Hodi F.S., Zauls A.J.,
RA Chessia M., Barrett P., Gribben J.G.;
RT "Identification of novel tumor antigens in CLL by SEREX: assessment of
RT their potential as targets for immunotherapeutic approaches.";
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 17-52.
RX PubMed=9582194;
RA Kenmochi N., Kawaguchi T., Rozen S., Davis E., Goodman N.,
RA Hudson T.J., Tanaka T., Page D.C.;
RT "A map of 75 human ribosomal protein genes.";
RL Genome Res. 8:509-523(1998).
RN [8]
RP MASS SPECTROMETRY, AND ACETYLATION AT ALA-2.
RX PubMed=12962325; DOI=10.1023/A:1025068419698;
RA Odintsova T.I., Muller E.C., Ivanov A.V., Egorov T.A., Bienert R.,
RA Vladimirov S.N., Kostka S., Otto A., Wittmann-Liebold B.,
RA Karpova G.G.;
RT "Characterization and analysis of posttranslational modifications of
RT the human large cytoplasmic ribosomal subunit proteins by mass
RT spectrometry and Edman sequencing.";
RL J. Protein Chem. 22:249-258(2003).
RN [9]
RP FUNCTION, AND VARIANT DBA7 GLU-161 DEL.
RX PubMed=19061985; DOI=10.1016/j.ajhg.2008.11.004;
RA Gazda H.T., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.-F.,
RA Schneider H., Darras N., Hasman C., Sieff C.A., Newburger P.E.,
RA Ball S.E., Niewiadomska E., Matysiak M., Zaucha J.M., Glader B.,
RA Niemeyer C., Meerpohl J.J., Atsidaftos E., Lipton J.M., Gleizes P.-E.,
RA Beggs A.H.;
RT "Ribosomal protein L5 and L11 mutations are associated with cleft
RT palate and abnormal thumbs in Diamond-Blackfan anemia patients.";
RL Am. J. Hum. Genet. 83:769-780(2008).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-44, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of
RT the kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-52 AND LYS-85, AND MASS
RP SPECTROMETRY.
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
RA Walther T.C., Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [12]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [13]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, AND MASS SPECTROMETRY.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [14]
RP STRUCTURE BY ELECTRON MICROSCOPY (5.0 ANGSTROMS) OF 80S RIBOSOME.
RX PubMed=23636399; DOI=10.1038/nature12104;
RA Anger A.M., Armache J.P., Berninghausen O., Habeck M., Subklewe M.,
RA Wilson D.N., Beckmann R.;
RT "Structures of the human and Drosophila 80S ribosome.";
RL Nature 497:80-85(2013).
RN [15]
RP VARIANT DBA7 HIS-20.
RX PubMed=19191325; DOI=10.1002/humu.20874;
RA Cmejla R., Cmejlova J., Handrkova H., Petrak J., Petrtylova K.,
RA Mihal V., Stary J., Cerna Z., Jabali Y., Pospisilova D.;
RT "Identification of mutations in the ribosomal protein L5 (RPL5) and
RT ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-
RT Blackfan anemia.";
RL Hum. Mutat. 30:321-327(2009).
CC -!- FUNCTION: Binds to 5S ribosomal RNA (By similarity). Required for
CC rRNA maturation and formation of the 60S ribosomal subunits.
CC Promotes nucleolar location of PML (By similarity).
CC -!- SUBUNIT: Interacts with PML and MDM2 (By similarity).
CC -!- INTERACTION:
CC Q00987:MDM2; NbExp=11; IntAct=EBI-354380, EBI-389668;
CC P01106:MYC; NbExp=3; IntAct=EBI-354380, EBI-447544;
CC Q15843:NEDD8; NbExp=4; IntAct=EBI-354380, EBI-716247;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus (By similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P62913-1, P39026-1;
CC Sequence=Displayed;
CC Name=2;
CC IsoId=P62913-2, P39026-2;
CC Sequence=VSP_008320;
CC -!- DISEASE: Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]: A form of
CC Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic
CC anemia that usually presents early in infancy. Diamond-Blackfan
CC anemia is characterized by a moderate to severe macrocytic anemia,
CC erythroblastopenia, and an increased risk of malignancy. 30 to 40%
CC of Diamond-Blackfan anemia patients present with short stature and
CC congenital anomalies, the most frequent being craniofacial
CC (Pierre-Robin syndrome and cleft palate), thumb and urogenital
CC anomalies. Note=The disease is caused by mutations affecting the
CC gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribosomal protein L5P family.
CC -!- WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database;
CC URL="http://www.dbagenes.unito.it/home.php?select_db=RPL11";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; X79234; CAA55816.1; -; mRNA.
DR EMBL; L05092; AAC15856.1; -; mRNA.
DR EMBL; AF101385; AAD20460.3; -; Genomic_DNA.
DR EMBL; BC018970; AAH18970.1; -; mRNA.
DR EMBL; AF432212; AAL99919.1; -; mRNA.
DR EMBL; AB007171; BAA25831.1; -; Genomic_DNA.
DR PIR; S45049; S45049.
DR RefSeq; NP_000966.2; NM_000975.3.
DR RefSeq; NP_001186731.1; NM_001199802.1.
DR UniGene; Hs.719951; -.
DR PDB; 3J3B; EM; 5.00 A; J=1-178.
DR PDBsum; 3J3B; -.
DR ProteinModelPortal; P62913; -.
DR SMR; P62913; 9-176.
DR IntAct; P62913; 30.
DR MINT; MINT-1140097; -.
DR STRING; 9606.ENSP00000363676; -.
DR PhosphoSite; P62913; -.
DR DMDM; 51702795; -.
DR SWISS-2DPAGE; P62913; -.
DR PaxDb; P62913; -.
DR PRIDE; P62913; -.
DR DNASU; 6135; -.
DR Ensembl; ENST00000374550; ENSP00000363676; ENSG00000142676.
DR GeneID; 6135; -.
DR KEGG; hsa:6135; -.
DR UCSC; uc001bhk.3; human.
DR CTD; 6135; -.
DR GeneCards; GC01P024018; -.
DR HGNC; HGNC:10301; RPL11.
DR HPA; HPA002734; -.
DR MIM; 604175; gene.
DR MIM; 612562; phenotype.
DR neXtProt; NX_P62913; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34664; -.
DR eggNOG; COG0094; -.
DR HOGENOM; HOG000231312; -.
DR HOVERGEN; HBG055214; -.
DR InParanoid; P62913; -.
DR KO; K02868; -.
DR OMA; EDTMAWF; -.
DR OrthoDB; EOG7ZPNMB; -.
DR PhylomeDB; P62913; -.
DR Reactome; REACT_116125; Disease.
DR Reactome; REACT_17015; Metabolism of proteins.
DR Reactome; REACT_1762; 3' -UTR-mediated translational regulation.
DR Reactome; REACT_21257; Metabolism of RNA.
DR Reactome; REACT_71; Gene Expression.
DR ChiTaRS; RPL11; human.
DR GeneWiki; RPL11; -.
DR GenomeRNAi; 6135; -.
DR NextBio; 23831; -.
DR PMAP-CutDB; P62913; -.
DR PRO; PR:P62913; -.
DR ArrayExpress; P62913; -.
DR Bgee; P62913; -.
DR CleanEx; HS_RPL11; -.
DR Genevestigator; P62913; -.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; TAS:ProtInc.
DR GO; GO:0019843; F:rRNA binding; IEA:UniProtKB-KW.
DR GO; GO:0003735; F:structural constituent of ribosome; NAS:UniProtKB.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0034504; P:protein localization to nucleus; ISS:UniProtKB.
DR GO; GO:0042273; P:ribosomal large subunit biogenesis; IMP:UniProtKB.
DR GO; GO:0006364; P:rRNA processing; IMP:UniProtKB.
DR GO; GO:0006614; P:SRP-dependent cotranslational protein targeting to membrane; TAS:Reactome.
DR GO; GO:0006414; P:translational elongation; TAS:Reactome.
DR GO; GO:0006413; P:translational initiation; TAS:Reactome.
DR GO; GO:0006415; P:translational termination; TAS:Reactome.
DR GO; GO:0019083; P:viral transcription; TAS:Reactome.
DR Gene3D; 3.30.1440.10; -; 1.
DR InterPro; IPR002132; Ribosomal_L5.
DR InterPro; IPR020929; Ribosomal_L5_CS.
DR InterPro; IPR022803; Ribosomal_L5_domain.
DR PANTHER; PTHR11994; PTHR11994; 1.
DR Pfam; PF00281; Ribosomal_L5; 1.
DR Pfam; PF00673; Ribosomal_L5_C; 1.
DR PIRSF; PIRSF002161; Ribosomal_L5; 1.
DR SUPFAM; SSF55282; SSF55282; 1.
DR PROSITE; PS00358; RIBOSOMAL_L5; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Alternative splicing; Complete proteome;
KW Diamond-Blackfan anemia; Direct protein sequencing; Disease mutation;
KW Nucleus; Phosphoprotein; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein; RNA-binding; rRNA-binding.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 178 60S ribosomal protein L11.
FT /FTId=PRO_0000125082.
FT MOD_RES 2 2 N-acetylalanine.
FT MOD_RES 44 44 Phosphothreonine.
FT MOD_RES 52 52 N6-acetyllysine.
FT MOD_RES 85 85 N6-acetyllysine.
FT VAR_SEQ 3 3 Missing (in isoform 2).
FT /FTId=VSP_008320.
FT VARIANT 20 20 L -> H (in DBA7).
FT /FTId=VAR_055448.
FT VARIANT 161 161 Missing (in DBA7).
FT /FTId=VAR_055449.
FT CONFLICT 31 31 D -> G (in Ref. 1; CAA55816).
FT CONFLICT 73 73 T -> A (in Ref. 1; CAA55816).
FT CONFLICT 92 92 Y -> L (in Ref. 1; CAA55816).
FT CONFLICT 118 118 K -> E (in Ref. 1; CAA55816).
SQ SEQUENCE 178 AA; 20252 MW; 26EC965C9239774E CRC64;
MAQDQGEKEN PMRELRIRKL CLNICVGESG DRLTRAAKVL EQLTGQTPVF SKARYTVRSF
GIRRNEKIAV HCTVRGAKAE EILEKGLKVR EYELRKNNFS DTGNFGFGIQ EHIDLGIKYD
PSIGIYGLDF YVVLGRPGFS IADKKRRTGC IGAKHRISKE EAMRWFQQKY DGIILPGK
//
MIM
604175
*RECORD*
*FIELD* NO
604175
*FIELD* TI
*604175 RIBOSOMAL PROTEIN L11; RPL11
*FIELD* TX
DESCRIPTION
The mammalian ribosome is composed of 4 RNA species (see 180450) and
read moreapproximately 80 different proteins (see 180466), including RPL11
(Kenmochi et al., 1998).
CLONING
Using PCR, Mishin et al. (1995) isolated a human placenta cDNA encoding
RPL11. The deduced RPL11 protein has 178 amino acids.
GENE STRUCTURE
Boria et al. (2010) stated that the RPL11 gene contains 6 exons spanning
4.6 kb.
MAPPING
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi
et al. (1998) mapped the human RPL11 gene to chromosome 1p. Graphodatsky
et al. (1999) localized the RPL11 gene to chromosome 1p36.1-p35 using
FISH.
GENE FUNCTION
Impeding ribosomal biogenesis generates ribosomal stress that activates
p53 (TP53; 191170) to stop cell growth. Dai et al. (2006) stated that
ribosomal proteins L5 (RPL5; 603634), L11, and L23 (RPL23; 603662)
interact with MDM2 (164785) and inhibit MDM2-mediated p53 ubiquitination
and degradation in response to ribosomal stress. They found that L5 and
L23 inhibited MDM2 autoubiquitination and MDM2-mediated ubiquitination
of p53 in human cell lines. In contrast, L11 increased the cellular
level of ubiquitinated MDM2 and stabilized p53. These effects required
the autoubiquitination activity of MDM2 and involved direct binding of
L11 to MDM2 via its central MDM2-binding domain.
Fumagalli et al. (2009) showed that RPL11-mediated p53 induction in
human cell lines was a general response to inhibition of 40S or 60S
ribosome biogenesis and did not require nucleolar disruption. Inhibition
of 40S ribosome biogenesis led to increased ribosome-free RPL11 due to
derepression of the polypyrimidine tract at its 5-prime transcriptional
start site (the 5-prime TOP), followed by increased RPL11 mRNA
translation. Fumagalli et al. (2009) hypothesized that impairment of the
assembly of RPL11 into nascent 60S ribosomes allows excess RPL11 to
inhibit MDM2 and stabilize p53. In contrast, when 40S ribosome
biogenesis is impaired, 60S ribosome biogenesis continues, leading to
translational upregulation of mRNAs with 5-prime TOPs, including that
for RPL11, despite inhibition of global protein synthesis.
Sasaki et al. (2011) found that conditional deletion of Pict1 (GLTSCR2;
605691) expression in mouse embryonic stem (ES) cells inhibited cell
growth due to cell cycle arrest and enhanced apoptosis. Mass
spectrometric analysis of peptides that immunoprecipitated with
epitope-tagged PICT1 in transfected 293T cells showed that PICT1
interacted with RPL11. Knockdown of Pict1 in mouse ES cells resulted in
translocation of Rpl11 from the nucleolus to the nucleoplasm, permitting
its interaction with Mdm2 and inhibition of p53 ubiquitination. Sasaki
et al. (2011) concluded that PICT1 is a potent regulator of the MDM2-p53
pathway.
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
(see DBA7, 612562) for mutations in 25 genes encoding ribosomal proteins
and identified 11 different mutations in the RPL11 gene in 13 probands
and 5 additional family members (see, e.g., 604175.0001-604175.0004).
The mutations segregated with disease in multiplex families and were not
found in at least 150 controls. Analysis of pre-rRNAs from
lymphoblastoid cells established from DBA patients revealed accumulation
of 32S and 12S pre-rRNA as well as smaller precursors of 5.8S rRNA
compared to controls, indicating defective maturation of internal
transcribed spacer-2 (ITS2) both at the initial endonucleolytic cleavage
in the 32S pre-rRNA and during subsequent processing steps.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 7
RPL11, ARG75TER
In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was
diagnosed at 2 months of age, who also had triphalangeal thumbs, Gazda
et al. (2008) identified heterozygosity for a de novo 223C-T transition
in exon 3 of the RPL11 gene, resulting in an arg75-to-ter (R75X)
substitution. The mutation was not found in her unaffected parents or in
at least 150 controls.
.0002
DIAMOND-BLACKFAN ANEMIA 7
RPL11, 2-BP DEL, 60CT
In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was
diagnosed at 9 months of age, who also had triphalangeal thumbs,
ventricular septal defect, and a narrow pulmonary artery, Gazda et al.
(2008) identified heterozygosity for a 2-bp deletion (60delCT) in exon 2
of the RPL11 gene, resulting in a frameshift causing a termination
sequence at codon 53. The mutation was also identified in her affected
mother and grandmother, who both had associated triphalangeal thumbs,
but was not found in at least 150 controls.
.0003
DIAMOND-BLACKFAN ANEMIA 7
RPL11, 3-BP DEL, 482AGG
In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was
diagnosed at 2 months of age and who had no associated malformations,
Gazda et al. (2008) identified heterozygosity for a 3-bp deletion
(482delAGG) in exon 5 of the RPL11 gene, resulting in deletion of glu161
(E161del). The mutation was identified in her affected mother, who also
had no associated malformations, but was not found in at least 150
controls.
.0004
DIAMOND-BLACKFAN ANEMIA 7
RPL11, IVS2AS, G-A, -1
In 2 male patients with Diamond-Blackfan anemia (DBA7; 612562), who both
had associated malformations, Gazda et al. (2008) identified
heterozygosity for a G-A transition at the acceptor splice site in
intron 2 (IVS2AS-1G-A) of the RPL11 gene. Associated features in 1
patient included a flat thenar muscle and small jaw, whereas the other
patient had tetralogy of Fallot and bilateral grade 3 vesicoureteral
reflux.
*FIELD* RF
1. Boria, I.; Garelli, E.; Gazda, H. T.; Aspesi, A.; Quarello, P.;
Pavesi, E.; Ferrante, D.; Meerpohl, J. J.; Kartal, M.; Da Costa, L.;
Proust, A.; Leblanc, T.; and 17 others: The ribosomal basis of
Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31:
1269-1279, 2010.
2. Dai, M.-S.; Shi, D.; Jin, Y.; Sun, X.-X.; Zhang, Y.; Grossman,
S. R.; Lu, H.: Regulation of the MDM2-p53 pathway by ribosomal protein
L11 involves a post-ubiquitination mechanism. J. Biol. Chem. 281:
24304-24313, 2006.
3. Fumagalli, S.; Di Cara, A.; Neb-Gulati, A.; Natt, F.; Schwemberger,
S.; Hall, J.; Babcock, G. F.; Bernardi, R.; Pandolfi, P. P.; Thomas,
G.: Absence of nucleolar disruption after impairment of 40S ribosome
biogenesis reveals an rpL11-translation-dependent mechanism of p53
induction. Nature Cell Biol. 11: 501-508, 2009.
4. Gazda, H. T.; Sheen, M. R.; Vlachos, A.; Choesmel, V.; O'Donohue,
M.-F.; Schneider, H.; Darras, N.; Hasman, C.; Sieff, C. A.; Newburger,
P. E.; Ball, S. E.; Niewiadomska, E.; and 9 others: Ribosomal protein
L5 and L11 mutations are associated with cleft palate and abnormal
thumbs in Diamond-Blackfan anemia patients. Am. J. Hum. Genet. 83:
769-780, 2008.
5. Graphodatsky, A. S.; Vorobieva, N. V.; Filipenko, M. L.; Voronina,
E. V.; Frengen, E.; Prydz, H.: Assignment of the L11 ribosomal protein
gene (RPL11) to human chromosome 1p36.1-p35 by in situ hybridization. Cytogenet.
Cell Genet. 84: 97-98, 1999.
6. Kenmochi, N.; Kawaguchi, T.; Rozen, S.; Davis, E.; Goodman, N.;
Hudson, T. J.; Tanaka, T.; Page, D. C.: A map of 75 human ribosomal
protein genes. Genome Res. 8: 509-523, 1998.
7. Mishin, V. P.; Filipenko, M. L.; Muravlev, A. I.; Karpova, G. G.;
Mertvetsov, N. P.: Cloning and determination of the primary structure
of DNA complementary to the mRNA of human ribosomal protein L11. Bioorg.
Khim. 21: 158-160, 1995. Note: Article in Russian.
8. Sasaki, M.; Kawahara, K.; Nishio, M.; Mimori, K.; Kogo, R.; Hamada,
K.; Itoh, B.; Wang, J.; Komatsu, Y.; Yang, Y. R.; Hikasa, H.; Horie,
Y.; and 11 others: Regulation of the MDM2-P53 pathway and tumor
growth by PICT1 via nucleolar RPL11. Nature Med. 17: 944-951, 2011.
*FIELD* CN
Patricia A. Hartz - updated: 12/19/2011
Cassandra L. Kniffin - updated: 3/24/2011
Patricia A. Hartz - updated: 1/20/2010
Marla J. F. O'Neill - updated: 1/26/2009
*FIELD* CD
Patti M. Sherman: 9/17/1999
*FIELD* ED
mgross: 12/19/2011
terry: 12/19/2011
wwang: 3/24/2011
mgross: 1/21/2010
terry: 1/20/2010
wwang: 1/29/2009
terry: 1/26/2009
psherman: 9/21/1999
mgross: 9/20/1999
psherman: 9/17/1999
*RECORD*
*FIELD* NO
604175
*FIELD* TI
*604175 RIBOSOMAL PROTEIN L11; RPL11
*FIELD* TX
DESCRIPTION
The mammalian ribosome is composed of 4 RNA species (see 180450) and
read moreapproximately 80 different proteins (see 180466), including RPL11
(Kenmochi et al., 1998).
CLONING
Using PCR, Mishin et al. (1995) isolated a human placenta cDNA encoding
RPL11. The deduced RPL11 protein has 178 amino acids.
GENE STRUCTURE
Boria et al. (2010) stated that the RPL11 gene contains 6 exons spanning
4.6 kb.
MAPPING
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi
et al. (1998) mapped the human RPL11 gene to chromosome 1p. Graphodatsky
et al. (1999) localized the RPL11 gene to chromosome 1p36.1-p35 using
FISH.
GENE FUNCTION
Impeding ribosomal biogenesis generates ribosomal stress that activates
p53 (TP53; 191170) to stop cell growth. Dai et al. (2006) stated that
ribosomal proteins L5 (RPL5; 603634), L11, and L23 (RPL23; 603662)
interact with MDM2 (164785) and inhibit MDM2-mediated p53 ubiquitination
and degradation in response to ribosomal stress. They found that L5 and
L23 inhibited MDM2 autoubiquitination and MDM2-mediated ubiquitination
of p53 in human cell lines. In contrast, L11 increased the cellular
level of ubiquitinated MDM2 and stabilized p53. These effects required
the autoubiquitination activity of MDM2 and involved direct binding of
L11 to MDM2 via its central MDM2-binding domain.
Fumagalli et al. (2009) showed that RPL11-mediated p53 induction in
human cell lines was a general response to inhibition of 40S or 60S
ribosome biogenesis and did not require nucleolar disruption. Inhibition
of 40S ribosome biogenesis led to increased ribosome-free RPL11 due to
derepression of the polypyrimidine tract at its 5-prime transcriptional
start site (the 5-prime TOP), followed by increased RPL11 mRNA
translation. Fumagalli et al. (2009) hypothesized that impairment of the
assembly of RPL11 into nascent 60S ribosomes allows excess RPL11 to
inhibit MDM2 and stabilize p53. In contrast, when 40S ribosome
biogenesis is impaired, 60S ribosome biogenesis continues, leading to
translational upregulation of mRNAs with 5-prime TOPs, including that
for RPL11, despite inhibition of global protein synthesis.
Sasaki et al. (2011) found that conditional deletion of Pict1 (GLTSCR2;
605691) expression in mouse embryonic stem (ES) cells inhibited cell
growth due to cell cycle arrest and enhanced apoptosis. Mass
spectrometric analysis of peptides that immunoprecipitated with
epitope-tagged PICT1 in transfected 293T cells showed that PICT1
interacted with RPL11. Knockdown of Pict1 in mouse ES cells resulted in
translocation of Rpl11 from the nucleolus to the nucleoplasm, permitting
its interaction with Mdm2 and inhibition of p53 ubiquitination. Sasaki
et al. (2011) concluded that PICT1 is a potent regulator of the MDM2-p53
pathway.
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
(see DBA7, 612562) for mutations in 25 genes encoding ribosomal proteins
and identified 11 different mutations in the RPL11 gene in 13 probands
and 5 additional family members (see, e.g., 604175.0001-604175.0004).
The mutations segregated with disease in multiplex families and were not
found in at least 150 controls. Analysis of pre-rRNAs from
lymphoblastoid cells established from DBA patients revealed accumulation
of 32S and 12S pre-rRNA as well as smaller precursors of 5.8S rRNA
compared to controls, indicating defective maturation of internal
transcribed spacer-2 (ITS2) both at the initial endonucleolytic cleavage
in the 32S pre-rRNA and during subsequent processing steps.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 7
RPL11, ARG75TER
In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was
diagnosed at 2 months of age, who also had triphalangeal thumbs, Gazda
et al. (2008) identified heterozygosity for a de novo 223C-T transition
in exon 3 of the RPL11 gene, resulting in an arg75-to-ter (R75X)
substitution. The mutation was not found in her unaffected parents or in
at least 150 controls.
.0002
DIAMOND-BLACKFAN ANEMIA 7
RPL11, 2-BP DEL, 60CT
In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was
diagnosed at 9 months of age, who also had triphalangeal thumbs,
ventricular septal defect, and a narrow pulmonary artery, Gazda et al.
(2008) identified heterozygosity for a 2-bp deletion (60delCT) in exon 2
of the RPL11 gene, resulting in a frameshift causing a termination
sequence at codon 53. The mutation was also identified in her affected
mother and grandmother, who both had associated triphalangeal thumbs,
but was not found in at least 150 controls.
.0003
DIAMOND-BLACKFAN ANEMIA 7
RPL11, 3-BP DEL, 482AGG
In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was
diagnosed at 2 months of age and who had no associated malformations,
Gazda et al. (2008) identified heterozygosity for a 3-bp deletion
(482delAGG) in exon 5 of the RPL11 gene, resulting in deletion of glu161
(E161del). The mutation was identified in her affected mother, who also
had no associated malformations, but was not found in at least 150
controls.
.0004
DIAMOND-BLACKFAN ANEMIA 7
RPL11, IVS2AS, G-A, -1
In 2 male patients with Diamond-Blackfan anemia (DBA7; 612562), who both
had associated malformations, Gazda et al. (2008) identified
heterozygosity for a G-A transition at the acceptor splice site in
intron 2 (IVS2AS-1G-A) of the RPL11 gene. Associated features in 1
patient included a flat thenar muscle and small jaw, whereas the other
patient had tetralogy of Fallot and bilateral grade 3 vesicoureteral
reflux.
*FIELD* RF
1. Boria, I.; Garelli, E.; Gazda, H. T.; Aspesi, A.; Quarello, P.;
Pavesi, E.; Ferrante, D.; Meerpohl, J. J.; Kartal, M.; Da Costa, L.;
Proust, A.; Leblanc, T.; and 17 others: The ribosomal basis of
Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31:
1269-1279, 2010.
2. Dai, M.-S.; Shi, D.; Jin, Y.; Sun, X.-X.; Zhang, Y.; Grossman,
S. R.; Lu, H.: Regulation of the MDM2-p53 pathway by ribosomal protein
L11 involves a post-ubiquitination mechanism. J. Biol. Chem. 281:
24304-24313, 2006.
3. Fumagalli, S.; Di Cara, A.; Neb-Gulati, A.; Natt, F.; Schwemberger,
S.; Hall, J.; Babcock, G. F.; Bernardi, R.; Pandolfi, P. P.; Thomas,
G.: Absence of nucleolar disruption after impairment of 40S ribosome
biogenesis reveals an rpL11-translation-dependent mechanism of p53
induction. Nature Cell Biol. 11: 501-508, 2009.
4. Gazda, H. T.; Sheen, M. R.; Vlachos, A.; Choesmel, V.; O'Donohue,
M.-F.; Schneider, H.; Darras, N.; Hasman, C.; Sieff, C. A.; Newburger,
P. E.; Ball, S. E.; Niewiadomska, E.; and 9 others: Ribosomal protein
L5 and L11 mutations are associated with cleft palate and abnormal
thumbs in Diamond-Blackfan anemia patients. Am. J. Hum. Genet. 83:
769-780, 2008.
5. Graphodatsky, A. S.; Vorobieva, N. V.; Filipenko, M. L.; Voronina,
E. V.; Frengen, E.; Prydz, H.: Assignment of the L11 ribosomal protein
gene (RPL11) to human chromosome 1p36.1-p35 by in situ hybridization. Cytogenet.
Cell Genet. 84: 97-98, 1999.
6. Kenmochi, N.; Kawaguchi, T.; Rozen, S.; Davis, E.; Goodman, N.;
Hudson, T. J.; Tanaka, T.; Page, D. C.: A map of 75 human ribosomal
protein genes. Genome Res. 8: 509-523, 1998.
7. Mishin, V. P.; Filipenko, M. L.; Muravlev, A. I.; Karpova, G. G.;
Mertvetsov, N. P.: Cloning and determination of the primary structure
of DNA complementary to the mRNA of human ribosomal protein L11. Bioorg.
Khim. 21: 158-160, 1995. Note: Article in Russian.
8. Sasaki, M.; Kawahara, K.; Nishio, M.; Mimori, K.; Kogo, R.; Hamada,
K.; Itoh, B.; Wang, J.; Komatsu, Y.; Yang, Y. R.; Hikasa, H.; Horie,
Y.; and 11 others: Regulation of the MDM2-P53 pathway and tumor
growth by PICT1 via nucleolar RPL11. Nature Med. 17: 944-951, 2011.
*FIELD* CN
Patricia A. Hartz - updated: 12/19/2011
Cassandra L. Kniffin - updated: 3/24/2011
Patricia A. Hartz - updated: 1/20/2010
Marla J. F. O'Neill - updated: 1/26/2009
*FIELD* CD
Patti M. Sherman: 9/17/1999
*FIELD* ED
mgross: 12/19/2011
terry: 12/19/2011
wwang: 3/24/2011
mgross: 1/21/2010
terry: 1/20/2010
wwang: 1/29/2009
terry: 1/26/2009
psherman: 9/21/1999
mgross: 9/20/1999
psherman: 9/17/1999
MIM
612562
*RECORD*
*FIELD* NO
612562
*FIELD* TI
#612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7
*FIELD* TX
A number sign (#) is used with this entry because this form of
read moreDiamond-Blackfan anemia (DBA) is caused by mutation in the gene encoding
ribosomal protein L11 (RPL11; 604175).
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
CLINICAL FEATURES
Gazda et al. (2008) reviewed medical records of DBA7 patients and found
that associated physical malformations, predominantly involving the
thumb, were seen in 12 of the 18 patients and included triphalangeal
thumbs, small extra thumbs, and flat thenar muscles, as well as
ventricular septal defect, tetralogy of Fallot, horseshoe kidney, and
vesicoureteral reflux. One patient had uterine cancer.
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
for mutations in 25 genes encoding ribosomal proteins and identified 11
different mutations in the RPL11 gene (604175) in 13 probands and 5
additional family members (see, e.g., 604175.0001-604175.0004). The
mutations segregated with disease in multiplex families and were not
found in at least 150 controls, and functional studies demonstrated
defects in the maturation of ribosomal RNAs associated with mutation in
the RPL11 gene.
*FIELD* RF
1. Gazda, H. T.; Sheen, M. R.; Vlachos, A.; Choesmel, V.; O'Donohue,
M.-F.; Schneider, H.; Darras, N.; Hasman, C.; Sieff, C. A.; Newburger,
P. E.; Ball, S. E.; Niewiadomska, E.; and 9 others: Ribosomal protein
L5 and L11 mutations are associated with cleft palate and abnormal
thumbs in Diamond-Blackfan anemia patients. Am. J. Hum. Genet. 83:
769-780, 2008.
*FIELD* CD
Marla J. F. O'Neill: 1/28/2009
*FIELD* ED
wwang: 01/29/2009
*RECORD*
*FIELD* NO
612562
*FIELD* TI
#612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7
*FIELD* TX
A number sign (#) is used with this entry because this form of
read moreDiamond-Blackfan anemia (DBA) is caused by mutation in the gene encoding
ribosomal protein L11 (RPL11; 604175).
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
CLINICAL FEATURES
Gazda et al. (2008) reviewed medical records of DBA7 patients and found
that associated physical malformations, predominantly involving the
thumb, were seen in 12 of the 18 patients and included triphalangeal
thumbs, small extra thumbs, and flat thenar muscles, as well as
ventricular septal defect, tetralogy of Fallot, horseshoe kidney, and
vesicoureteral reflux. One patient had uterine cancer.
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
for mutations in 25 genes encoding ribosomal proteins and identified 11
different mutations in the RPL11 gene (604175) in 13 probands and 5
additional family members (see, e.g., 604175.0001-604175.0004). The
mutations segregated with disease in multiplex families and were not
found in at least 150 controls, and functional studies demonstrated
defects in the maturation of ribosomal RNAs associated with mutation in
the RPL11 gene.
*FIELD* RF
1. Gazda, H. T.; Sheen, M. R.; Vlachos, A.; Choesmel, V.; O'Donohue,
M.-F.; Schneider, H.; Darras, N.; Hasman, C.; Sieff, C. A.; Newburger,
P. E.; Ball, S. E.; Niewiadomska, E.; and 9 others: Ribosomal protein
L5 and L11 mutations are associated with cleft palate and abnormal
thumbs in Diamond-Blackfan anemia patients. Am. J. Hum. Genet. 83:
769-780, 2008.
*FIELD* CD
Marla J. F. O'Neill: 1/28/2009
*FIELD* ED
wwang: 01/29/2009