Full text data of RPL26
RPL26
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
60S ribosomal protein L26
Note: presumably soluble (membrane word is not in UniProt keywords or features)
60S ribosomal protein L26
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P61254
ID RL26_HUMAN Reviewed; 145 AA.
AC P61254; B2R4F0; D3DTR8; Q02877; Q6IPY2;
DT 10-MAY-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 10-MAY-2004, sequence version 1.
DT 22-JAN-2014, entry version 97.
DE RecName: Full=60S ribosomal protein L26;
GN Name=RPL26;
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].
RX PubMed=8479925; DOI=10.1093/nar/21.7.1673;
RA Zaman G.J.R.;
RT "Sequence of a cDNA encoding human ribosomal protein L26 and of a cDNA
RT probably encoding human ribosomal protein L6.";
RL Nucleic Acids Res. 21:1673-1673(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Butterfield L.H., Stephen K., Snyder C., Winston S.;
RT "Characterization of the human homologue to rat ribosomal protein L26
RT from HL60 cells.";
RL Submitted (APR-1993) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11875025; DOI=10.1101/gr.214202;
RA Yoshihama M., Uechi T., Asakawa S., Kawasaki K., Kato S., Higa S.,
RA Maeda N., Minoshima S., Tanaka T., Shimizu N., Kenmochi N.;
RT "The human ribosomal protein genes: sequencing and comparative
RT analysis of 73 genes.";
RL Genome Res. 12:379-390(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-139, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
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 [9]
RP INVOLVEMENT IN DBA11.
RX PubMed=22431104; DOI=10.1002/humu.22081;
RA Gazda H.T., Preti M., Sheen M.R., O'Donohue M.F., Vlachos A.,
RA Davies S.M., Kattamis A., Doherty L., Landowski M., Buros C.,
RA Ghazvinian R., Sieff C.A., Newburger P.E., Niewiadomska E.,
RA Matysiak M., Glader B., Atsidaftos E., Lipton J.M., Gleizes P.E.,
RA Beggs A.H.;
RT "Frameshift mutation in p53 regulator RPL26 is associated with
RT multiple physical abnormalities and a specific pre-ribosomal RNA
RT processing defect in diamond-blackfan anemia.";
RL Hum. Mutat. 33:1037-1044(2012).
RN [10]
RP STRUCTURE BY ELECTRON MICROSCOPY (5.0 ANGSTROMS).
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).
CC -!- INTERACTION:
CC Q9NY93:DDX56; NbExp=1; IntAct=EBI-352405, EBI-372376;
CC O15479:MAGEB2; NbExp=1; IntAct=EBI-352405, EBI-1057615;
CC O43586:PSTPIP1; NbExp=1; IntAct=EBI-352405, EBI-1050964;
CC -!- DISEASE: Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: A form
CC of Diamond-Blackfan anemia, a congenital non-regenerative
CC hypoplastic anemia that usually presents early in infancy.
CC Diamond-Blackfan anemia is characterized by a moderate to severe
CC macrocytic anemia, erythroblastopenia, and an increased risk of
CC malignancy. 30 to 40% of Diamond-Blackfan anemia patients present
CC with short stature and congenital anomalies, the most frequent
CC being craniofacial (Pierre-Robin syndrome and cleft palate), thumb
CC and urogenital anomalies. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribosomal protein L24P family.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/RPL26ID47470ch17p13.html";
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; X69392; CAA49189.1; -; mRNA.
DR EMBL; L07287; AAA60279.1; -; Genomic_DNA.
DR EMBL; AB061829; BAB79467.1; -; Genomic_DNA.
DR EMBL; AK311804; BAG34747.1; -; mRNA.
DR EMBL; CH471108; EAW90053.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90054.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90057.1; -; Genomic_DNA.
DR EMBL; BC071664; AAH71664.1; -; mRNA.
DR PIR; S33713; S33713.
DR RefSeq; NP_000978.1; NM_000987.3.
DR RefSeq; XP_005256806.1; XM_005256749.1.
DR RefSeq; XP_005256807.1; XM_005256750.1.
DR UniGene; Hs.482144; -.
DR UniGene; Hs.644794; -.
DR UniGene; Hs.744896; -.
DR PDB; 3J3B; EM; 5.00 A; Y=1-145.
DR PDBsum; 3J3B; -.
DR ProteinModelPortal; P61254; -.
DR SMR; P61254; 2-134.
DR IntAct; P61254; 25.
DR MINT; MINT-1427663; -.
DR STRING; 9606.ENSP00000293842; -.
DR PhosphoSite; P61254; -.
DR DMDM; 47117765; -.
DR PaxDb; P61254; -.
DR PRIDE; P61254; -.
DR Ensembl; ENST00000293842; ENSP00000293842; ENSG00000161970.
DR Ensembl; ENST00000582556; ENSP00000463470; ENSG00000161970.
DR Ensembl; ENST00000583011; ENSP00000462322; ENSG00000161970.
DR Ensembl; ENST00000584164; ENSP00000463784; ENSG00000161970.
DR GeneID; 6154; -.
DR KEGG; hsa:6154; -.
DR UCSC; uc002glh.1; human.
DR CTD; 6154; -.
DR GeneCards; GC17M008280; -.
DR HGNC; HGNC:10327; RPL26.
DR HPA; HPA030449; -.
DR MIM; 603704; gene.
DR MIM; 614900; phenotype.
DR neXtProt; NX_P61254; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34705; -.
DR eggNOG; COG0198; -.
DR HOGENOM; HOG000216571; -.
DR HOVERGEN; HBG017293; -.
DR KO; K02898; -.
DR OMA; VRIMRGD; -.
DR PhylomeDB; P61254; -.
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 GeneWiki; RPL26; -.
DR GenomeRNAi; 6154; -.
DR NextBio; 23899; -.
DR PRO; PR:P61254; -.
DR ArrayExpress; P61254; -.
DR Bgee; P61254; -.
DR CleanEx; HS_RPL26; -.
DR Genevestigator; P61254; -.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; TAS:ProtInc.
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: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; 2.30.30.30; -; 1.
DR InterPro; IPR005824; KOW.
DR InterPro; IPR014722; Rib_L2_dom2.
DR InterPro; IPR005825; Ribosomal_L24/26_CS.
DR InterPro; IPR005756; Ribosomal_L26/L24P_euk/arc.
DR InterPro; IPR008991; Translation_prot_SH3-like.
DR PANTHER; PTHR11143; PTHR11143; 1.
DR Pfam; PF00467; KOW; 1.
DR SMART; SM00739; KOW; 1.
DR SUPFAM; SSF50104; SSF50104; 1.
DR TIGRFAMs; TIGR01080; rplX_A_E; 1.
DR PROSITE; PS01108; RIBOSOMAL_L24; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Diamond-Blackfan anemia;
KW Phosphoprotein; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein.
FT CHAIN 1 145 60S ribosomal protein L26.
FT /FTId=PRO_0000130787.
FT MOD_RES 139 139 Phosphothreonine.
FT CONFLICT 133 133 G -> S (in Ref. 2; AAA60279).
SQ SEQUENCE 145 AA; 17258 MW; 049D53AB4E3F46B6 CRC64;
MKFNPFVTSD RSKNRKRHFN APSHIRRKIM SSPLSKELRQ KYNVRSMPIR KDDEVQVVRG
HYKGQQIGKV VQVYRKKYVI YIERVQREKA NGTTVHVGIH PSKVVITRLK LDKDRKKILE
RKAKSRQVGK EKGKYKEETI EKMQE
//
ID RL26_HUMAN Reviewed; 145 AA.
AC P61254; B2R4F0; D3DTR8; Q02877; Q6IPY2;
DT 10-MAY-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 10-MAY-2004, sequence version 1.
DT 22-JAN-2014, entry version 97.
DE RecName: Full=60S ribosomal protein L26;
GN Name=RPL26;
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].
RX PubMed=8479925; DOI=10.1093/nar/21.7.1673;
RA Zaman G.J.R.;
RT "Sequence of a cDNA encoding human ribosomal protein L26 and of a cDNA
RT probably encoding human ribosomal protein L6.";
RL Nucleic Acids Res. 21:1673-1673(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Butterfield L.H., Stephen K., Snyder C., Winston S.;
RT "Characterization of the human homologue to rat ribosomal protein L26
RT from HL60 cells.";
RL Submitted (APR-1993) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11875025; DOI=10.1101/gr.214202;
RA Yoshihama M., Uechi T., Asakawa S., Kawasaki K., Kato S., Higa S.,
RA Maeda N., Minoshima S., Tanaka T., Shimizu N., Kenmochi N.;
RT "The human ribosomal protein genes: sequencing and comparative
RT analysis of 73 genes.";
RL Genome Res. 12:379-390(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-139, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
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 [9]
RP INVOLVEMENT IN DBA11.
RX PubMed=22431104; DOI=10.1002/humu.22081;
RA Gazda H.T., Preti M., Sheen M.R., O'Donohue M.F., Vlachos A.,
RA Davies S.M., Kattamis A., Doherty L., Landowski M., Buros C.,
RA Ghazvinian R., Sieff C.A., Newburger P.E., Niewiadomska E.,
RA Matysiak M., Glader B., Atsidaftos E., Lipton J.M., Gleizes P.E.,
RA Beggs A.H.;
RT "Frameshift mutation in p53 regulator RPL26 is associated with
RT multiple physical abnormalities and a specific pre-ribosomal RNA
RT processing defect in diamond-blackfan anemia.";
RL Hum. Mutat. 33:1037-1044(2012).
RN [10]
RP STRUCTURE BY ELECTRON MICROSCOPY (5.0 ANGSTROMS).
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).
CC -!- INTERACTION:
CC Q9NY93:DDX56; NbExp=1; IntAct=EBI-352405, EBI-372376;
CC O15479:MAGEB2; NbExp=1; IntAct=EBI-352405, EBI-1057615;
CC O43586:PSTPIP1; NbExp=1; IntAct=EBI-352405, EBI-1050964;
CC -!- DISEASE: Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: A form
CC of Diamond-Blackfan anemia, a congenital non-regenerative
CC hypoplastic anemia that usually presents early in infancy.
CC Diamond-Blackfan anemia is characterized by a moderate to severe
CC macrocytic anemia, erythroblastopenia, and an increased risk of
CC malignancy. 30 to 40% of Diamond-Blackfan anemia patients present
CC with short stature and congenital anomalies, the most frequent
CC being craniofacial (Pierre-Robin syndrome and cleft palate), thumb
CC and urogenital anomalies. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribosomal protein L24P family.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/RPL26ID47470ch17p13.html";
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; X69392; CAA49189.1; -; mRNA.
DR EMBL; L07287; AAA60279.1; -; Genomic_DNA.
DR EMBL; AB061829; BAB79467.1; -; Genomic_DNA.
DR EMBL; AK311804; BAG34747.1; -; mRNA.
DR EMBL; CH471108; EAW90053.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90054.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90057.1; -; Genomic_DNA.
DR EMBL; BC071664; AAH71664.1; -; mRNA.
DR PIR; S33713; S33713.
DR RefSeq; NP_000978.1; NM_000987.3.
DR RefSeq; XP_005256806.1; XM_005256749.1.
DR RefSeq; XP_005256807.1; XM_005256750.1.
DR UniGene; Hs.482144; -.
DR UniGene; Hs.644794; -.
DR UniGene; Hs.744896; -.
DR PDB; 3J3B; EM; 5.00 A; Y=1-145.
DR PDBsum; 3J3B; -.
DR ProteinModelPortal; P61254; -.
DR SMR; P61254; 2-134.
DR IntAct; P61254; 25.
DR MINT; MINT-1427663; -.
DR STRING; 9606.ENSP00000293842; -.
DR PhosphoSite; P61254; -.
DR DMDM; 47117765; -.
DR PaxDb; P61254; -.
DR PRIDE; P61254; -.
DR Ensembl; ENST00000293842; ENSP00000293842; ENSG00000161970.
DR Ensembl; ENST00000582556; ENSP00000463470; ENSG00000161970.
DR Ensembl; ENST00000583011; ENSP00000462322; ENSG00000161970.
DR Ensembl; ENST00000584164; ENSP00000463784; ENSG00000161970.
DR GeneID; 6154; -.
DR KEGG; hsa:6154; -.
DR UCSC; uc002glh.1; human.
DR CTD; 6154; -.
DR GeneCards; GC17M008280; -.
DR HGNC; HGNC:10327; RPL26.
DR HPA; HPA030449; -.
DR MIM; 603704; gene.
DR MIM; 614900; phenotype.
DR neXtProt; NX_P61254; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34705; -.
DR eggNOG; COG0198; -.
DR HOGENOM; HOG000216571; -.
DR HOVERGEN; HBG017293; -.
DR KO; K02898; -.
DR OMA; VRIMRGD; -.
DR PhylomeDB; P61254; -.
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 GeneWiki; RPL26; -.
DR GenomeRNAi; 6154; -.
DR NextBio; 23899; -.
DR PRO; PR:P61254; -.
DR ArrayExpress; P61254; -.
DR Bgee; P61254; -.
DR CleanEx; HS_RPL26; -.
DR Genevestigator; P61254; -.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; TAS:ProtInc.
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: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; 2.30.30.30; -; 1.
DR InterPro; IPR005824; KOW.
DR InterPro; IPR014722; Rib_L2_dom2.
DR InterPro; IPR005825; Ribosomal_L24/26_CS.
DR InterPro; IPR005756; Ribosomal_L26/L24P_euk/arc.
DR InterPro; IPR008991; Translation_prot_SH3-like.
DR PANTHER; PTHR11143; PTHR11143; 1.
DR Pfam; PF00467; KOW; 1.
DR SMART; SM00739; KOW; 1.
DR SUPFAM; SSF50104; SSF50104; 1.
DR TIGRFAMs; TIGR01080; rplX_A_E; 1.
DR PROSITE; PS01108; RIBOSOMAL_L24; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Diamond-Blackfan anemia;
KW Phosphoprotein; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein.
FT CHAIN 1 145 60S ribosomal protein L26.
FT /FTId=PRO_0000130787.
FT MOD_RES 139 139 Phosphothreonine.
FT CONFLICT 133 133 G -> S (in Ref. 2; AAA60279).
SQ SEQUENCE 145 AA; 17258 MW; 049D53AB4E3F46B6 CRC64;
MKFNPFVTSD RSKNRKRHFN APSHIRRKIM SSPLSKELRQ KYNVRSMPIR KDDEVQVVRG
HYKGQQIGKV VQVYRKKYVI YIERVQREKA NGTTVHVGIH PSKVVITRLK LDKDRKKILE
RKAKSRQVGK EKGKYKEETI EKMQE
//
MIM
603704
*RECORD*
*FIELD* NO
603704
*FIELD* TI
*603704 RIBOSOMAL PROTEIN L26; RPL26
*FIELD* TX
DESCRIPTION
The mammalian ribosome is composed of 4 RNA species (see 180450) and
read moreapproximately 80 different proteins.
CLONING
Zaman (1993) isolated a human lung cancer cell line cDNA encoding
ribosomal protein L26 (RPL26). The deduced 145-amino acid human RPL26
protein differs from the rat Rpl26 protein by 2 amino acids.
MAPPING
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi
et al. (1998) mapped the RPL26 gene to chromosome 17p.
MOLECULAR GENETICS
In a 3.5-year-old girl with Diamond-Black anemia (DBA11; 614900), Gazda
et al. (2012) identified heterozygosity for a de novo 2-bp deletion in
the RPL26 gene (603704.0001). Functional analysis indicated that the
mutation causes a ribosome biogenesis defect affecting maturation of
both the small and large subunits.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 11 (1 family)
RPL26, 2-BP DEL, 120GA
In a 3.5-year-old girl with Diamond-Black anemia (DBA11; 614900), Gazda
et al. (2012) identified heterozygosity for a de novo 2-bp deletion
(120delGA) in exon 2 of the RPL26 gene, predicted to cause a frameshift
resulting in a truncated 51-amino acid protein that was unlikely to
associate with nascent ribosomal subunits. The deletion was not found in
her unaffected parents. Depletion of RPL26 with siRNAs in HeLa cells
resulted in diminished accumulation of 12S pre-rRNA, and the pattern of
precursors to the 18S rRNA was also significantly altered, with lower
proportions of 30S and 21S pre-rRNAs and a high level of 41S pre-rRNA.
ITS1 and ITS2 hybridization probes both showed an increase in 36S
pre-rRNA as well as another precursor migrating just below 36S,
consistent with a defect in ITS1 cleavage at site 2. Gazda et al. (2012)
noted that this doublet was also found in the patient, and that the
41S/21S pre-rRNA ratio was also much higher in the patient, similar to
the pattern observed in RPL26-depleted cells. The authors concluded that
this unique phenotype, not observed in other patients or controls,
indicated that RPL26 function in ribosome biogenesis was affected.
*FIELD* RF
1. Gazda, H. T.; Preti, M.; Sheen, M. R.; O'Donohue, M.-F.; Vlachos,
A.; Davies, S. M.; Kattamis, A.; Doherty, L.; Landowski, M.; Buros,
C.; Ghazvinian, R.; Sieff, C. A.; Newburger, P. E.; Niewiadomska,
E.; Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Gleizes,
P.-E.; Beggs, A. H.: Frameshift mutation of p53 regulator RPL26 is
associated with multiple physical abnormalities and a specific pre-ribosomal
RNA processing defect in Diamond-Blackfan anemia. Hum. Mutat. 33:
1037-1044, 2012.
2. 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.
3. Zaman, G. J. R.: Sequence of a cDNA encoding human ribosomal protein
L26 and of a cDNA probably encoding human ribosomal protein L6. Nucleic
Acids Res. 21: 1673 only, 1993.
*FIELD* CN
Marla J. F. O'Neill - updated: 11/1/2012
*FIELD* CD
Patti M. Sherman: 4/6/1999
*FIELD* ED
carol: 11/04/2013
carol: 11/1/2012
terry: 11/1/2012
carol: 4/16/1999
*RECORD*
*FIELD* NO
603704
*FIELD* TI
*603704 RIBOSOMAL PROTEIN L26; RPL26
*FIELD* TX
DESCRIPTION
The mammalian ribosome is composed of 4 RNA species (see 180450) and
read moreapproximately 80 different proteins.
CLONING
Zaman (1993) isolated a human lung cancer cell line cDNA encoding
ribosomal protein L26 (RPL26). The deduced 145-amino acid human RPL26
protein differs from the rat Rpl26 protein by 2 amino acids.
MAPPING
By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi
et al. (1998) mapped the RPL26 gene to chromosome 17p.
MOLECULAR GENETICS
In a 3.5-year-old girl with Diamond-Black anemia (DBA11; 614900), Gazda
et al. (2012) identified heterozygosity for a de novo 2-bp deletion in
the RPL26 gene (603704.0001). Functional analysis indicated that the
mutation causes a ribosome biogenesis defect affecting maturation of
both the small and large subunits.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 11 (1 family)
RPL26, 2-BP DEL, 120GA
In a 3.5-year-old girl with Diamond-Black anemia (DBA11; 614900), Gazda
et al. (2012) identified heterozygosity for a de novo 2-bp deletion
(120delGA) in exon 2 of the RPL26 gene, predicted to cause a frameshift
resulting in a truncated 51-amino acid protein that was unlikely to
associate with nascent ribosomal subunits. The deletion was not found in
her unaffected parents. Depletion of RPL26 with siRNAs in HeLa cells
resulted in diminished accumulation of 12S pre-rRNA, and the pattern of
precursors to the 18S rRNA was also significantly altered, with lower
proportions of 30S and 21S pre-rRNAs and a high level of 41S pre-rRNA.
ITS1 and ITS2 hybridization probes both showed an increase in 36S
pre-rRNA as well as another precursor migrating just below 36S,
consistent with a defect in ITS1 cleavage at site 2. Gazda et al. (2012)
noted that this doublet was also found in the patient, and that the
41S/21S pre-rRNA ratio was also much higher in the patient, similar to
the pattern observed in RPL26-depleted cells. The authors concluded that
this unique phenotype, not observed in other patients or controls,
indicated that RPL26 function in ribosome biogenesis was affected.
*FIELD* RF
1. Gazda, H. T.; Preti, M.; Sheen, M. R.; O'Donohue, M.-F.; Vlachos,
A.; Davies, S. M.; Kattamis, A.; Doherty, L.; Landowski, M.; Buros,
C.; Ghazvinian, R.; Sieff, C. A.; Newburger, P. E.; Niewiadomska,
E.; Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Gleizes,
P.-E.; Beggs, A. H.: Frameshift mutation of p53 regulator RPL26 is
associated with multiple physical abnormalities and a specific pre-ribosomal
RNA processing defect in Diamond-Blackfan anemia. Hum. Mutat. 33:
1037-1044, 2012.
2. 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.
3. Zaman, G. J. R.: Sequence of a cDNA encoding human ribosomal protein
L26 and of a cDNA probably encoding human ribosomal protein L6. Nucleic
Acids Res. 21: 1673 only, 1993.
*FIELD* CN
Marla J. F. O'Neill - updated: 11/1/2012
*FIELD* CD
Patti M. Sherman: 4/6/1999
*FIELD* ED
carol: 11/04/2013
carol: 11/1/2012
terry: 11/1/2012
carol: 4/16/1999
MIM
614900
*RECORD*
*FIELD* NO
614900
*FIELD* TI
#614900 DIAMOND-BLACKFAN ANEMIA 11; DBA11
*FIELD* TX
A number sign (#) is used with this entry because of evidence that
read moreDiamond-Blackfan anemia-11 (DBA11) is caused by heterozygous mutation in
the RPL26 gene (603704) on chromosome 19q13. One such family has been
described.
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia (DBA), see 105650.
CLINICAL FEATURES
Gazda et al. (2012) studied a 3.5-year-old girl with Diamond-Blackfan
anemia who was born with isolated cleft palate, absent external auditory
meatus on the right and a narrowed meatus on the left, incomplete lower
left eyelid, bicuspid aortic valve, and agenesis of the left kidney. In
the right upper extremity, she had a single bone in the forearm, likely
the ulna, and on the left, synostosis of a shortened radius and ulna;
both thumbs were absent and she had 3 digits on each hand. She was
anemic at birth, requiring transfusion twice during the perinatal
period. By 7 weeks of age, she was again anemic and profoundly
neutropenic; bone marrow examination showed cellularity of 40% with
markedly decreased erythropoiesis. She had a good response to steroids
and was maintained on a minimal dose with only occasional neutropenia
and no further need for transfusions.
MOLECULAR GENETICS
In a cohort of 96 families with Diamond-Blackfan anemia, the majority of
whom had been included in previous reports (Gazda et al., 2006, 2008;
Farrar et al., 2008; Doherty et al., 2010) and all of whom were negative
for mutation in known DBA-associated genes, Gazda et al. (2012)
sequenced 16 candidate ribosomal protein genes, and identified a
pathogenic mutation in 1 patient: a 3.5-year-old girl with anemia and
multiple malformations who was heterozygous for a de novo 2-bp deletion
in the RPL26 gene (603704.0001).
*FIELD* RF
1. Doherty, L.; Sheen, M. R.; Vlachos, A.; Choesmel, V.; O'Donohue,
M.-F.; Clinton, C.; Schneider, H. E.; Sieff, C. A.; Newburger, P.
E.; Ball, S. E.; Niewiadomska, E.; Matysiak, M.; Glader, B.; Arceci,
R. J.; Farrar, J. E.; Atsidaftos, E.; Lipton, J. M.; Gleizes, P.-E.;
Gazda, H. T.: Ribosomal protein genes RPS10 and RPS26 are commonly
mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 86: 222-228,
2010. Note: Erratum: Am. J. Hum. Genet 86: 655-656, 2010.
2. Farrar, J. E.; Nater, M.; Caywood, E.; McDevitt, M. A.; Kowalski,
J.; Takemoto, C. M.; Talbot, C. C., Jr.; Meltzer, P.; Esposito, D.;
Beggs, A. H.; Schneider, H. E.; Grabowska, A.; and 9 others: Abnormalities
of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan
anemia. Blood 112: 1582-1592, 2008.
3. Gazda, H. T.; Grabowska, A.; Merida-Long, L. B.; Latawiec, E.;
Schneider, H. E.; Lipton, J. M.; Vlachos, A.; Atsidaftos, E.; Ball,
S. E.; Orfali, K. A.; Niewiadomska, E.; Da Costa, L.; and 11 others
: Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am.
J. Hum. Genet. 79: 1110-1118, 2006.
4. Gazda, H. T.; Preti, M.; Sheen, M. R.; O'Donohue, M.-F.; Vlachos,
A.; Davies, S. M.; Kattamis, A.; Doherty, L.; Landowski, M.; Buros,
C.; Ghazvinian, R.; Sieff, C. A.; Newburger, P. E.; Niewiadomska,
E.; Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Gleizes,
P.-E.; Beggs, A. H.: Frameshift mutation of p53 regulator RPL26 is
associated with multiple physical abnormalities and a specific pre-ribosomal
RNA processing defect in Diamond-Blackfan anemia. Hum. Mutat. 33:
1037-1044, 2012.
5. 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: 11/1/2012
*FIELD* ED
carol: 11/04/2013
carol: 11/1/2012
*RECORD*
*FIELD* NO
614900
*FIELD* TI
#614900 DIAMOND-BLACKFAN ANEMIA 11; DBA11
*FIELD* TX
A number sign (#) is used with this entry because of evidence that
read moreDiamond-Blackfan anemia-11 (DBA11) is caused by heterozygous mutation in
the RPL26 gene (603704) on chromosome 19q13. One such family has been
described.
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia (DBA), see 105650.
CLINICAL FEATURES
Gazda et al. (2012) studied a 3.5-year-old girl with Diamond-Blackfan
anemia who was born with isolated cleft palate, absent external auditory
meatus on the right and a narrowed meatus on the left, incomplete lower
left eyelid, bicuspid aortic valve, and agenesis of the left kidney. In
the right upper extremity, she had a single bone in the forearm, likely
the ulna, and on the left, synostosis of a shortened radius and ulna;
both thumbs were absent and she had 3 digits on each hand. She was
anemic at birth, requiring transfusion twice during the perinatal
period. By 7 weeks of age, she was again anemic and profoundly
neutropenic; bone marrow examination showed cellularity of 40% with
markedly decreased erythropoiesis. She had a good response to steroids
and was maintained on a minimal dose with only occasional neutropenia
and no further need for transfusions.
MOLECULAR GENETICS
In a cohort of 96 families with Diamond-Blackfan anemia, the majority of
whom had been included in previous reports (Gazda et al., 2006, 2008;
Farrar et al., 2008; Doherty et al., 2010) and all of whom were negative
for mutation in known DBA-associated genes, Gazda et al. (2012)
sequenced 16 candidate ribosomal protein genes, and identified a
pathogenic mutation in 1 patient: a 3.5-year-old girl with anemia and
multiple malformations who was heterozygous for a de novo 2-bp deletion
in the RPL26 gene (603704.0001).
*FIELD* RF
1. Doherty, L.; Sheen, M. R.; Vlachos, A.; Choesmel, V.; O'Donohue,
M.-F.; Clinton, C.; Schneider, H. E.; Sieff, C. A.; Newburger, P.
E.; Ball, S. E.; Niewiadomska, E.; Matysiak, M.; Glader, B.; Arceci,
R. J.; Farrar, J. E.; Atsidaftos, E.; Lipton, J. M.; Gleizes, P.-E.;
Gazda, H. T.: Ribosomal protein genes RPS10 and RPS26 are commonly
mutated in Diamond-Blackfan anemia. Am. J. Hum. Genet. 86: 222-228,
2010. Note: Erratum: Am. J. Hum. Genet 86: 655-656, 2010.
2. Farrar, J. E.; Nater, M.; Caywood, E.; McDevitt, M. A.; Kowalski,
J.; Takemoto, C. M.; Talbot, C. C., Jr.; Meltzer, P.; Esposito, D.;
Beggs, A. H.; Schneider, H. E.; Grabowska, A.; and 9 others: Abnormalities
of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan
anemia. Blood 112: 1582-1592, 2008.
3. Gazda, H. T.; Grabowska, A.; Merida-Long, L. B.; Latawiec, E.;
Schneider, H. E.; Lipton, J. M.; Vlachos, A.; Atsidaftos, E.; Ball,
S. E.; Orfali, K. A.; Niewiadomska, E.; Da Costa, L.; and 11 others
: Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am.
J. Hum. Genet. 79: 1110-1118, 2006.
4. Gazda, H. T.; Preti, M.; Sheen, M. R.; O'Donohue, M.-F.; Vlachos,
A.; Davies, S. M.; Kattamis, A.; Doherty, L.; Landowski, M.; Buros,
C.; Ghazvinian, R.; Sieff, C. A.; Newburger, P. E.; Niewiadomska,
E.; Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Gleizes,
P.-E.; Beggs, A. H.: Frameshift mutation of p53 regulator RPL26 is
associated with multiple physical abnormalities and a specific pre-ribosomal
RNA processing defect in Diamond-Blackfan anemia. Hum. Mutat. 33:
1037-1044, 2012.
5. 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: 11/1/2012
*FIELD* ED
carol: 11/04/2013
carol: 11/1/2012