Full text data of RPS17
RPS17
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
40S ribosomal protein S17
Note: presumably soluble (membrane word is not in UniProt keywords or features)
40S ribosomal protein S17
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P08708
ID RS17_HUMAN Reviewed; 135 AA.
AC P08708; B2R4U4;
DT 01-JAN-1988, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 139.
DE RecName: Full=40S ribosomal protein S17;
GN Name=RPS17;
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=3529092; DOI=10.1073/pnas.83.18.6907;
RA Chen I.-T., Dixit A., Rhoads D.D., Roufa D.J.;
RT "Homologous ribosomal proteins in bacteria, yeast, and humans.";
RL Proc. Natl. Acad. Sci. U.S.A. 83:6907-6911(1986).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3240863; DOI=10.1016/0378-1119(88)90109-6;
RA Chen I.-T., Roufa D.J.;
RT "The transcriptionally active human ribosomal protein S17 gene.";
RL Gene 70:107-116(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thymus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R.,
RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G.,
RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A.,
RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W.,
RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X.,
RA Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K.,
RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S.,
RA Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human
RT chromosome 15.";
RL Nature 440:671-675(2006).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=B-cell, Kidney, Lung, Pancreas, Prostate, and Salivary gland;
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 PROTEIN SEQUENCE OF 2-16.
RC TISSUE=Placenta;
RX PubMed=8706699; DOI=10.1111/j.1432-1033.1996.0144u.x;
RA Vladimirov S.N., Ivanov A.V., Karpova G.G., Musolyamov A.K.,
RA Egorov T.A., Thiede B., Wittmann-Liebold B., Otto A.;
RT "Characterization of the human small-ribosomal-subunit proteins by N-
RT terminal and internal sequencing, and mass spectrometry.";
RL Eur. J. Biochem. 239:144-149(1996).
RN [8]
RP INVOLVEMENT IN DBA4.
RX PubMed=17647292; DOI=10.1002/humu.20608;
RA Cmejla R., Cmejlova J., Handrkova H., Petrak J., Pospisilova D.;
RT "Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan
RT anemia.";
RL Hum. Mutat. 28:1178-1182(2007).
RN [9]
RP INVOLVEMENT IN DBA4.
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 SER-113 AND THR-130, AND
RP MASS 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 [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [13]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113 AND THR-130, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [14]
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 [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113, AND MASS
RP SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [16]
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 -!- DISEASE: Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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 developing leukemia.
CC 30 to 40% of Diamond-Blackfan anemia patients present with short
CC stature and congenital anomalies, the most frequent being
CC craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
CC urogenital anomalies. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribosomal protein S17e family.
CC -!- WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database;
CC URL="http://www.dbagenes.unito.it/home.php?select_db=RPS17";
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DR EMBL; M13932; AAA60284.1; -; mRNA.
DR EMBL; M18000; AAA60285.1; -; Genomic_DNA.
DR EMBL; AK026570; BAB15501.1; -; mRNA.
DR EMBL; AK311951; BAG34891.1; -; mRNA.
DR EMBL; AC135995; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471188; EAW62454.1; -; Genomic_DNA.
DR EMBL; BC009407; AAH09407.1; -; mRNA.
DR EMBL; BC019899; AAH19899.1; -; mRNA.
DR EMBL; BC022370; AAH22370.1; -; mRNA.
DR EMBL; BC049824; AAH49824.1; -; mRNA.
DR EMBL; BC070222; AAH70222.1; -; mRNA.
DR EMBL; BC062715; AAH62715.1; -; mRNA.
DR EMBL; BC071928; AAH71928.1; -; mRNA.
DR PIR; JT0405; R4HU17.
DR RefSeq; NP_001012.1; NM_001021.3.
DR RefSeq; NP_001185986.1; NM_001199057.1.
DR RefSeq; XP_005272474.1; XM_005272417.1.
DR UniGene; Hs.433427; -.
DR UniGene; Hs.512525; -.
DR PDB; 3J3A; EM; 5.00 A; R=1-135.
DR PDBsum; 3J3A; -.
DR ProteinModelPortal; P08708; -.
DR SMR; P08708; 1-126.
DR IntAct; P08708; 15.
DR MINT; MINT-5002404; -.
DR STRING; 9606.ENSP00000346045; -.
DR PhosphoSite; P08708; -.
DR DMDM; 133825; -.
DR PaxDb; P08708; -.
DR PRIDE; P08708; -.
DR DNASU; 6218; -.
DR Ensembl; ENST00000330339; ENSP00000346045; ENSG00000184779.
DR GeneID; 100505503; -.
DR GeneID; 6218; -.
DR KEGG; hsa:100505503; -.
DR KEGG; hsa:6218; -.
DR CTD; 100505503; -.
DR CTD; 6218; -.
DR GeneCards; GC15M082821; -.
DR HGNC; HGNC:10397; RPS17.
DR HPA; HPA055060; -.
DR MIM; 180472; gene.
DR MIM; 612527; phenotype.
DR neXtProt; NX_P08708; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34797; -.
DR eggNOG; COG1383; -.
DR HOGENOM; HOG000227166; -.
DR HOVERGEN; HBG001708; -.
DR InParanoid; P08708; -.
DR KO; K02962; -.
DR OrthoDB; EOG72C52C; -.
DR PhylomeDB; P08708; -.
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; RPS17; -.
DR NextBio; 24145; -.
DR PRO; PR:P08708; -.
DR ArrayExpress; P08708; -.
DR Bgee; P08708; -.
DR CleanEx; HS_RPS17; -.
DR Genevestigator; P08708; -.
DR GO; GO:0022627; C:cytosolic small ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; NAS:UniProtKB.
DR GO; GO:0034101; P:erythrocyte homeostasis; IMP:UniProtKB.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0000028; P:ribosomal small subunit assembly; IBA:RefGenome.
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; ISS:RefGenome.
DR GO; GO:0006413; P:translational initiation; NAS:UniProtKB.
DR GO; GO:0006415; P:translational termination; TAS:Reactome.
DR GO; GO:0019083; P:viral transcription; TAS:Reactome.
DR Gene3D; 1.10.60.20; -; 1.
DR HAMAP; MF_00511; Ribosomal_S17e; 1; -.
DR InterPro; IPR001210; Ribosomal_S17e.
DR InterPro; IPR018273; Ribosomal_S17e_CS.
DR PANTHER; PTHR10732; PTHR10732; 1.
DR Pfam; PF00833; Ribosomal_S17e; 1.
DR SUPFAM; SSF116820; SSF116820; 1.
DR PROSITE; PS00712; RIBOSOMAL_S17E; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Diamond-Blackfan anemia;
KW Direct protein sequencing; Phosphoprotein; Polymorphism;
KW Reference proteome; Ribonucleoprotein; Ribosomal protein.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 135 40S ribosomal protein S17.
FT /FTId=PRO_0000141525.
FT MOD_RES 113 113 Phosphoserine.
FT MOD_RES 130 130 Phosphothreonine.
FT VARIANT 36 36 E -> K (in dbSNP:rs1043734).
FT /FTId=VAR_034478.
SQ SEQUENCE 135 AA; 15550 MW; 299AD605C5401325 CRC64;
MGRVRTKTVK KAARVIIEKY YTRLGNDFHT NKRVCEEIAI IPSKKLRNKI AGYVTHLMKR
IQRGPVRGIS IKLQEEERER RDNYVPEVSA LDQEIIEVDP DTKEMLKLLD FGSLSNLQVT
QPTVGMNFKT PRGPV
//
ID RS17_HUMAN Reviewed; 135 AA.
AC P08708; B2R4U4;
DT 01-JAN-1988, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 139.
DE RecName: Full=40S ribosomal protein S17;
GN Name=RPS17;
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=3529092; DOI=10.1073/pnas.83.18.6907;
RA Chen I.-T., Dixit A., Rhoads D.D., Roufa D.J.;
RT "Homologous ribosomal proteins in bacteria, yeast, and humans.";
RL Proc. Natl. Acad. Sci. U.S.A. 83:6907-6911(1986).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=3240863; DOI=10.1016/0378-1119(88)90109-6;
RA Chen I.-T., Roufa D.J.;
RT "The transcriptionally active human ribosomal protein S17 gene.";
RL Gene 70:107-116(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Thymus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R.,
RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G.,
RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A.,
RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W.,
RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X.,
RA Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K.,
RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S.,
RA Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human
RT chromosome 15.";
RL Nature 440:671-675(2006).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=B-cell, Kidney, Lung, Pancreas, Prostate, and Salivary gland;
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 PROTEIN SEQUENCE OF 2-16.
RC TISSUE=Placenta;
RX PubMed=8706699; DOI=10.1111/j.1432-1033.1996.0144u.x;
RA Vladimirov S.N., Ivanov A.V., Karpova G.G., Musolyamov A.K.,
RA Egorov T.A., Thiede B., Wittmann-Liebold B., Otto A.;
RT "Characterization of the human small-ribosomal-subunit proteins by N-
RT terminal and internal sequencing, and mass spectrometry.";
RL Eur. J. Biochem. 239:144-149(1996).
RN [8]
RP INVOLVEMENT IN DBA4.
RX PubMed=17647292; DOI=10.1002/humu.20608;
RA Cmejla R., Cmejlova J., Handrkova H., Petrak J., Pospisilova D.;
RT "Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan
RT anemia.";
RL Hum. Mutat. 28:1178-1182(2007).
RN [9]
RP INVOLVEMENT IN DBA4.
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 SER-113 AND THR-130, AND
RP MASS 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 [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.M800588-MCP200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [13]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113 AND THR-130, AND
RP MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [14]
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 [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113, AND MASS
RP SPECTROMETRY.
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
RA Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
RA Blagoev B.;
RT "System-wide temporal characterization of the proteome and
RT phosphoproteome of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [16]
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 -!- DISEASE: Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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 developing leukemia.
CC 30 to 40% of Diamond-Blackfan anemia patients present with short
CC stature and congenital anomalies, the most frequent being
CC craniofacial (Pierre-Robin syndrome and cleft palate), thumb and
CC urogenital anomalies. Note=The disease is caused by mutations
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ribosomal protein S17e family.
CC -!- WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database;
CC URL="http://www.dbagenes.unito.it/home.php?select_db=RPS17";
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; M13932; AAA60284.1; -; mRNA.
DR EMBL; M18000; AAA60285.1; -; Genomic_DNA.
DR EMBL; AK026570; BAB15501.1; -; mRNA.
DR EMBL; AK311951; BAG34891.1; -; mRNA.
DR EMBL; AC135995; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471188; EAW62454.1; -; Genomic_DNA.
DR EMBL; BC009407; AAH09407.1; -; mRNA.
DR EMBL; BC019899; AAH19899.1; -; mRNA.
DR EMBL; BC022370; AAH22370.1; -; mRNA.
DR EMBL; BC049824; AAH49824.1; -; mRNA.
DR EMBL; BC070222; AAH70222.1; -; mRNA.
DR EMBL; BC062715; AAH62715.1; -; mRNA.
DR EMBL; BC071928; AAH71928.1; -; mRNA.
DR PIR; JT0405; R4HU17.
DR RefSeq; NP_001012.1; NM_001021.3.
DR RefSeq; NP_001185986.1; NM_001199057.1.
DR RefSeq; XP_005272474.1; XM_005272417.1.
DR UniGene; Hs.433427; -.
DR UniGene; Hs.512525; -.
DR PDB; 3J3A; EM; 5.00 A; R=1-135.
DR PDBsum; 3J3A; -.
DR ProteinModelPortal; P08708; -.
DR SMR; P08708; 1-126.
DR IntAct; P08708; 15.
DR MINT; MINT-5002404; -.
DR STRING; 9606.ENSP00000346045; -.
DR PhosphoSite; P08708; -.
DR DMDM; 133825; -.
DR PaxDb; P08708; -.
DR PRIDE; P08708; -.
DR DNASU; 6218; -.
DR Ensembl; ENST00000330339; ENSP00000346045; ENSG00000184779.
DR GeneID; 100505503; -.
DR GeneID; 6218; -.
DR KEGG; hsa:100505503; -.
DR KEGG; hsa:6218; -.
DR CTD; 100505503; -.
DR CTD; 6218; -.
DR GeneCards; GC15M082821; -.
DR HGNC; HGNC:10397; RPS17.
DR HPA; HPA055060; -.
DR MIM; 180472; gene.
DR MIM; 612527; phenotype.
DR neXtProt; NX_P08708; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34797; -.
DR eggNOG; COG1383; -.
DR HOGENOM; HOG000227166; -.
DR HOVERGEN; HBG001708; -.
DR InParanoid; P08708; -.
DR KO; K02962; -.
DR OrthoDB; EOG72C52C; -.
DR PhylomeDB; P08708; -.
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; RPS17; -.
DR NextBio; 24145; -.
DR PRO; PR:P08708; -.
DR ArrayExpress; P08708; -.
DR Bgee; P08708; -.
DR CleanEx; HS_RPS17; -.
DR Genevestigator; P08708; -.
DR GO; GO:0022627; C:cytosolic small ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; NAS:UniProtKB.
DR GO; GO:0034101; P:erythrocyte homeostasis; IMP:UniProtKB.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0000028; P:ribosomal small subunit assembly; IBA:RefGenome.
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; ISS:RefGenome.
DR GO; GO:0006413; P:translational initiation; NAS:UniProtKB.
DR GO; GO:0006415; P:translational termination; TAS:Reactome.
DR GO; GO:0019083; P:viral transcription; TAS:Reactome.
DR Gene3D; 1.10.60.20; -; 1.
DR HAMAP; MF_00511; Ribosomal_S17e; 1; -.
DR InterPro; IPR001210; Ribosomal_S17e.
DR InterPro; IPR018273; Ribosomal_S17e_CS.
DR PANTHER; PTHR10732; PTHR10732; 1.
DR Pfam; PF00833; Ribosomal_S17e; 1.
DR SUPFAM; SSF116820; SSF116820; 1.
DR PROSITE; PS00712; RIBOSOMAL_S17E; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Diamond-Blackfan anemia;
KW Direct protein sequencing; Phosphoprotein; Polymorphism;
KW Reference proteome; Ribonucleoprotein; Ribosomal protein.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 135 40S ribosomal protein S17.
FT /FTId=PRO_0000141525.
FT MOD_RES 113 113 Phosphoserine.
FT MOD_RES 130 130 Phosphothreonine.
FT VARIANT 36 36 E -> K (in dbSNP:rs1043734).
FT /FTId=VAR_034478.
SQ SEQUENCE 135 AA; 15550 MW; 299AD605C5401325 CRC64;
MGRVRTKTVK KAARVIIEKY YTRLGNDFHT NKRVCEEIAI IPSKKLRNKI AGYVTHLMKR
IQRGPVRGIS IKLQEEERER RDNYVPEVSA LDQEIIEVDP DTKEMLKLLD FGSLSNLQVT
QPTVGMNFKT PRGPV
//
MIM
180472
*RECORD*
*FIELD* NO
180472
*FIELD* TI
*180472 RIBOSOMAL PROTEIN S17; RPS17
RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED;;
read moreRIBOSOMAL PROTEIN S17a, INCLUDED; RPS17A, INCLUDED;;
RIBOSOMAL PROTEIN S17b-LIKE 2, INCLUDED; RPS17L2, INCLUDED;;
RIBOSOMAL PROTEIN S17b, INCLUDED; RPS17B, INCLUDED
*FIELD* TX
For general information about ribosomal proteins, see 180466.
CLONING
Chen et al. (1986) cloned a human ribosomal protein S17 (RPS17) cDNA.
The deduced RPS17 protein has 135 amino acids. The authors reported that
the RPS17 gene appears to have been stringently conserved during
evolution.
By screening a human genomic library with an RPS17 cDNA, Chen and Roufa
(1988) isolated the functional RPS17 gene and 2 processed RPS17
pseudogenes.
GENE STRUCTURE
Chen and Roufa (1988) determined that the functional RPS17 gene contains
5 exons spanning 4 kb.
MAPPING
By assessing the expression of RPS17 mRNA in rodent/human hybrid cells
carrying different human chromosomes, Filipenko et al. (1995) mapped the
functional RPS17 gene to chromosome 15. Kenmochi et al. (1998) mapped
the functional RPS17 gene to 15q by somatic cell hybrid and radiation
hybrid mapping analyses using an STS derived from an RPS17 intron.
Nakamichi et al. (1986) mapped the RPS17A, or RPS17L1, gene to 5q33-qter
and the RPS17B, or RPS17L2, gene to 17q. Chen and Roufa (1988) stated
that the RPS17A and RPS17B genes are not transcriptionally active.
MOLECULAR GENETICS
In a 31-year-old Czech man with Diamond-Blackfan anemia (DBA4; 612527),
Cmejla et al. (2007) identified a heterozygous mutation abolishing the
translation initiation start codon of the RPS17 gene (180472.0001). The
mutation was not found in his apparently healthy brother and parents or
in 71 controls.
In a male patient with DBA, Gazda et al. (2008) identified
heterozygosity for a 2-bp deletion in the RPS17 gene (180472.0002).
Landowski et al. (2013) performed array CGH for copy number variation in
87 probands with Diamond-Blackfan anemia who were negative for mutation
in 10 known DBA-associated ribosomal protein genes and identified 2
nearly identical large deletions involving exons 3, 4, and 5 of the
RPS17 gene (180472.0003) in 2 male patients.
HISTORY
Mammalian ribosomal protein genes are members of multigene families that
are composed predominantly of multiple processed pseudogenes and one
functional intron-containing gene, which has made the identification and
mapping of the functional ribosomal protein genes difficult. Using an
intron-containing PCR product for the analysis of rodent/human somatic
cell hybrids, Feo et al. (1992) incorrectly mapped the RPS17 gene to
chromosome 11pter-p13.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 4
RPS17, MET1ARG
In a 31-year-old Czech man with Diamond-Blackfan anemia-4 (612527),
Cmejla et al. (2007) identified a heterozygous 2T-G transversion in exon
1 of the RPS17 gene, causing a met1-to-arg (M1R) substitution that
abolishes the ATG translation initiation start codon and is predicted to
result in a short peptide of only 4 amino acids, beginning at the next
downstream start codon at position +158. The presence of the mutation
was confirmed in peripheral blood mononuclear cells, buccal swab, and
nails of the patient, and was not found in his apparently healthy
brother and parents or in 71 controls.
.0002
DIAMOND-BLACKFAN ANEMIA 4
RPS17, 2-BP DEL, 200GA
In a male patient with Diamond-Blackfan anemia (DBA4; 612527) who was
diagnosed at 4 months of age and had no associated malformations, Gazda
et al. (2008) identified heterozygosity for a 2-bp deletion (200delGA)
in exon 3 of the RPS17 gene, resulting in a frameshift causing a
termination sequence at codon 86. The mutation was not found in his
unaffected parents or sister, or in at least 150 controls.
.0003
DIAMOND-BLACKFAN ANEMIA 4
RPS17, 2.9-KB DEL
In 2 male patients with Diamond-Blackfan anemia (DBA4; 612527),
Landowski et al. (2013) identified heterozygosity for a 2,887-bp and a
2,921-bp deletion at Chr15:81,002,660-81,005,546 and
Chr15:81,002,660-81,005,580 (NCBI36), respectively, containing exons 3,
4, and 5 of the RPS17 gene. One patient was transfusion dependent,
whereas the other required red blood cell transfusions 2 to 3 times a
year between ages 6 weeks and 6 years, then entered remission; the
latter patient was also diagnosed with developmental delay. In his
unaffected parents, mPCR showed ratios similar to those of control,
indicating that the mutation arose de novo in this patient; DNA was not
available from both parents of the other patient. Because mPCR showed
reduction of all 5 exons in both patients compared to controls, whereas
only exons 3, 4, and 5 were deleted by array CGH, Landowski et al.
(2013) performed copy number assay on patient DNA samples. This showed a
50% reduction of RPS17 DNA in both probands compared to the unaffected
parents and controls, indicating deletion of 2 out of 4 copies of RPS17
in both.
*FIELD* SA
D'Eustachio et al. (1981); Woolford et al. (1979)
*FIELD* RF
1. Chen, I.-T.; Dixit, A.; Rhoads, D. D.; Roufa, D. J.: Homologous
ribosomal proteins in bacteria, yeast, and humans. Proc. Nat. Acad.
Sci. 83: 6907-6911, 1986.
2. Chen, I.-T.; Roufa, D. J.: The transcriptionally active human
ribosomal protein S17 gene. Gene 70: 107-116, 1988.
3. Cmejla, R.; Cmejlova, J.; Handrkova, H.; Petrak, J.; Pospisilova,
D.: Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan
anemia. Hum. Mutat. 28: 1178-1182, 2007.
4. D'Eustachio, P.; Meyuhas, O.; Ruddle, F.; Perry, R. P.: Chromosomal
distribution of ribosomal protein genes in the mouse. Cell 24: 307-312,
1981.
5. Feo, S.; Davies, B.; Fried, M.: The mapping of seven intron-containing
ribosomal protein genes shows they are unlinked in the human genome. Genomics 13:
201-207, 1992.
6. Filipenko, M. L.; Iantsen, E. I.; Muravlev, A. I.; Kopantsev, E.
P.; Karpova, G. G.; Mertvetsov, N. P.: Mapping the genes for ribosomal
proteins S14 and S17 on human chromosomes using cDNA from a panel
of hybrid cells. Bioorg. Khim. 21: 349-353, 1995. Note: Article
in Russian.
7. 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.
8. 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.
9. Landowski, M.; O'Donohue, M.-F.; Buros, C.; Ghazvinian, R.; Montel-Lehry,
N.; Vlachos, A.; Sieff, C. A.; Newburger, P. E.; Niewiadomska, E.;
Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Beggs, A.
H.; Gleizes, P.-E.; Gazda, H. T.: Novel deletion of RPL15 identified
by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum.
Genet. 132: 1265-1274, 2013.
10. Nakamichi, N. N.; Kao, F.-T.; Wasmuth, J.; Roufa, D. J.: Ribosomal
protein gene sequences map to human chromosomes 5, 8, and 17. Somat.
Cell Molec. Genet. 12: 225-236, 1986.
11. Woolford, J. L., Jr.; Hereford, L. M.; Rosbash, M.: Isolation
of cloned DNA sequences containing ribosomal protein genes from Saccharomyces
cerevisiae. Cell 18: 1247-1259, 1979.
*FIELD* CN
Marla J. F. O'Neill - updated: 11/27/2013
Marla J. F. O'Neill - updated: 1/26/2009
Marla J. F. O'Neill - updated: 1/13/2009
Patti M. Sherman - updated: 5/11/1999
Patti M. Sherman - updated: 3/29/1999
*FIELD* CD
Victor A. McKusick: 6/6/1992
*FIELD* ED
carol: 12/02/2013
mcolton: 11/27/2013
wwang: 1/28/2009
terry: 1/26/2009
carol: 1/13/2009
terry: 1/13/2009
psherman: 5/17/1999
carol: 5/17/1999
psherman: 5/11/1999
carol: 4/8/1999
carol: 6/6/1992
*RECORD*
*FIELD* NO
180472
*FIELD* TI
*180472 RIBOSOMAL PROTEIN S17; RPS17
RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED;;
read moreRIBOSOMAL PROTEIN S17a, INCLUDED; RPS17A, INCLUDED;;
RIBOSOMAL PROTEIN S17b-LIKE 2, INCLUDED; RPS17L2, INCLUDED;;
RIBOSOMAL PROTEIN S17b, INCLUDED; RPS17B, INCLUDED
*FIELD* TX
For general information about ribosomal proteins, see 180466.
CLONING
Chen et al. (1986) cloned a human ribosomal protein S17 (RPS17) cDNA.
The deduced RPS17 protein has 135 amino acids. The authors reported that
the RPS17 gene appears to have been stringently conserved during
evolution.
By screening a human genomic library with an RPS17 cDNA, Chen and Roufa
(1988) isolated the functional RPS17 gene and 2 processed RPS17
pseudogenes.
GENE STRUCTURE
Chen and Roufa (1988) determined that the functional RPS17 gene contains
5 exons spanning 4 kb.
MAPPING
By assessing the expression of RPS17 mRNA in rodent/human hybrid cells
carrying different human chromosomes, Filipenko et al. (1995) mapped the
functional RPS17 gene to chromosome 15. Kenmochi et al. (1998) mapped
the functional RPS17 gene to 15q by somatic cell hybrid and radiation
hybrid mapping analyses using an STS derived from an RPS17 intron.
Nakamichi et al. (1986) mapped the RPS17A, or RPS17L1, gene to 5q33-qter
and the RPS17B, or RPS17L2, gene to 17q. Chen and Roufa (1988) stated
that the RPS17A and RPS17B genes are not transcriptionally active.
MOLECULAR GENETICS
In a 31-year-old Czech man with Diamond-Blackfan anemia (DBA4; 612527),
Cmejla et al. (2007) identified a heterozygous mutation abolishing the
translation initiation start codon of the RPS17 gene (180472.0001). The
mutation was not found in his apparently healthy brother and parents or
in 71 controls.
In a male patient with DBA, Gazda et al. (2008) identified
heterozygosity for a 2-bp deletion in the RPS17 gene (180472.0002).
Landowski et al. (2013) performed array CGH for copy number variation in
87 probands with Diamond-Blackfan anemia who were negative for mutation
in 10 known DBA-associated ribosomal protein genes and identified 2
nearly identical large deletions involving exons 3, 4, and 5 of the
RPS17 gene (180472.0003) in 2 male patients.
HISTORY
Mammalian ribosomal protein genes are members of multigene families that
are composed predominantly of multiple processed pseudogenes and one
functional intron-containing gene, which has made the identification and
mapping of the functional ribosomal protein genes difficult. Using an
intron-containing PCR product for the analysis of rodent/human somatic
cell hybrids, Feo et al. (1992) incorrectly mapped the RPS17 gene to
chromosome 11pter-p13.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 4
RPS17, MET1ARG
In a 31-year-old Czech man with Diamond-Blackfan anemia-4 (612527),
Cmejla et al. (2007) identified a heterozygous 2T-G transversion in exon
1 of the RPS17 gene, causing a met1-to-arg (M1R) substitution that
abolishes the ATG translation initiation start codon and is predicted to
result in a short peptide of only 4 amino acids, beginning at the next
downstream start codon at position +158. The presence of the mutation
was confirmed in peripheral blood mononuclear cells, buccal swab, and
nails of the patient, and was not found in his apparently healthy
brother and parents or in 71 controls.
.0002
DIAMOND-BLACKFAN ANEMIA 4
RPS17, 2-BP DEL, 200GA
In a male patient with Diamond-Blackfan anemia (DBA4; 612527) who was
diagnosed at 4 months of age and had no associated malformations, Gazda
et al. (2008) identified heterozygosity for a 2-bp deletion (200delGA)
in exon 3 of the RPS17 gene, resulting in a frameshift causing a
termination sequence at codon 86. The mutation was not found in his
unaffected parents or sister, or in at least 150 controls.
.0003
DIAMOND-BLACKFAN ANEMIA 4
RPS17, 2.9-KB DEL
In 2 male patients with Diamond-Blackfan anemia (DBA4; 612527),
Landowski et al. (2013) identified heterozygosity for a 2,887-bp and a
2,921-bp deletion at Chr15:81,002,660-81,005,546 and
Chr15:81,002,660-81,005,580 (NCBI36), respectively, containing exons 3,
4, and 5 of the RPS17 gene. One patient was transfusion dependent,
whereas the other required red blood cell transfusions 2 to 3 times a
year between ages 6 weeks and 6 years, then entered remission; the
latter patient was also diagnosed with developmental delay. In his
unaffected parents, mPCR showed ratios similar to those of control,
indicating that the mutation arose de novo in this patient; DNA was not
available from both parents of the other patient. Because mPCR showed
reduction of all 5 exons in both patients compared to controls, whereas
only exons 3, 4, and 5 were deleted by array CGH, Landowski et al.
(2013) performed copy number assay on patient DNA samples. This showed a
50% reduction of RPS17 DNA in both probands compared to the unaffected
parents and controls, indicating deletion of 2 out of 4 copies of RPS17
in both.
*FIELD* SA
D'Eustachio et al. (1981); Woolford et al. (1979)
*FIELD* RF
1. Chen, I.-T.; Dixit, A.; Rhoads, D. D.; Roufa, D. J.: Homologous
ribosomal proteins in bacteria, yeast, and humans. Proc. Nat. Acad.
Sci. 83: 6907-6911, 1986.
2. Chen, I.-T.; Roufa, D. J.: The transcriptionally active human
ribosomal protein S17 gene. Gene 70: 107-116, 1988.
3. Cmejla, R.; Cmejlova, J.; Handrkova, H.; Petrak, J.; Pospisilova,
D.: Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan
anemia. Hum. Mutat. 28: 1178-1182, 2007.
4. D'Eustachio, P.; Meyuhas, O.; Ruddle, F.; Perry, R. P.: Chromosomal
distribution of ribosomal protein genes in the mouse. Cell 24: 307-312,
1981.
5. Feo, S.; Davies, B.; Fried, M.: The mapping of seven intron-containing
ribosomal protein genes shows they are unlinked in the human genome. Genomics 13:
201-207, 1992.
6. Filipenko, M. L.; Iantsen, E. I.; Muravlev, A. I.; Kopantsev, E.
P.; Karpova, G. G.; Mertvetsov, N. P.: Mapping the genes for ribosomal
proteins S14 and S17 on human chromosomes using cDNA from a panel
of hybrid cells. Bioorg. Khim. 21: 349-353, 1995. Note: Article
in Russian.
7. 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.
8. 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.
9. Landowski, M.; O'Donohue, M.-F.; Buros, C.; Ghazvinian, R.; Montel-Lehry,
N.; Vlachos, A.; Sieff, C. A.; Newburger, P. E.; Niewiadomska, E.;
Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Beggs, A.
H.; Gleizes, P.-E.; Gazda, H. T.: Novel deletion of RPL15 identified
by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum.
Genet. 132: 1265-1274, 2013.
10. Nakamichi, N. N.; Kao, F.-T.; Wasmuth, J.; Roufa, D. J.: Ribosomal
protein gene sequences map to human chromosomes 5, 8, and 17. Somat.
Cell Molec. Genet. 12: 225-236, 1986.
11. Woolford, J. L., Jr.; Hereford, L. M.; Rosbash, M.: Isolation
of cloned DNA sequences containing ribosomal protein genes from Saccharomyces
cerevisiae. Cell 18: 1247-1259, 1979.
*FIELD* CN
Marla J. F. O'Neill - updated: 11/27/2013
Marla J. F. O'Neill - updated: 1/26/2009
Marla J. F. O'Neill - updated: 1/13/2009
Patti M. Sherman - updated: 5/11/1999
Patti M. Sherman - updated: 3/29/1999
*FIELD* CD
Victor A. McKusick: 6/6/1992
*FIELD* ED
carol: 12/02/2013
mcolton: 11/27/2013
wwang: 1/28/2009
terry: 1/26/2009
carol: 1/13/2009
terry: 1/13/2009
psherman: 5/17/1999
carol: 5/17/1999
psherman: 5/11/1999
carol: 4/8/1999
carol: 6/6/1992
MIM
612527
*RECORD*
*FIELD* NO
612527
*FIELD* TI
#612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4
*FIELD* TX
A number sign (#) is used with this entry because Diamond-Blackfan
read moreanemia-4 (DBA4) is caused by mutation in the gene encoding ribosomal
protein S17 (RPS17; 180472) on chromosome 15q.
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Cmejla et al. (2007) screened the RPS17 gene in 124 Czech patients with
Diamond-Blackfan anemia, 6 of whom were already known to carry a
heterozygous mutation in the RPS19 gene (603474), and identified a
heterozygous mutation abolishing the translation initiation start codon
of the RPS17 gene (180472.0001) in a 31-year-old male patient. The
mutation was not found in his apparently healthy brother and parents or
in 71 controls. In addition to the typical macrocytic anemia with
increased activity of erythrocyte adenosine deaminase seen in DBA, the
patient had short stature, facial dysmorphism, and a flat thenar
eminence.
In a male patient who was diagnosed with DBA at 4 months of age and had
no associated malformations, Gazda et al. (2008) identified
heterozygosity for a 2-bp deletion in the RPS17 gene (180472.0002). The
mutation was not found in his unaffected parents or sister, or in at
least 150 controls.
Landowski et al. (2013) performed array CGH for copy number variation in
87 probands with Diamond-Blackfan anemia who were negative for mutation
in 10 known DBA-associated ribosomal protein genes and identified 2
nearly identical large deletions involving exons 3, 4, and 5 of the
RPS17 gene (180472.0003) in 2 male patients.
*FIELD* RF
1. Cmejla, R.; Cmejlova, J.; Handrkova, H.; Petrak, J.; Pospisilova,
D.: Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan
anemia. Hum. Mutat. 28: 1178-1182, 2007.
2. 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.
3. Landowski, M.; O'Donohue, M.-F.; Buros, C.; Ghazvinian, R.; Montel-Lehry,
N.; Vlachos, A.; Sieff, C. A.; Newburger, P. E.; Niewiadomska, E.;
Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Beggs, A.
H.; Gleizes, P.-E.; Gazda, H. T.: Novel deletion of RPL15 identified
by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum.
Genet. 132: 1265-1274, 2013.
*FIELD* CN
Marla J. F. O'Neill - updated: 11/27/2013
Marla J. F. O'Neill - updated: 1/26/2009
*FIELD* CD
Marla J. F. O'Neill: 1/13/2009
*FIELD* ED
carol: 12/02/2013
mcolton: 11/27/2013
wwang: 1/28/2009
terry: 1/26/2009
carol: 1/13/2009
*RECORD*
*FIELD* NO
612527
*FIELD* TI
#612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4
*FIELD* TX
A number sign (#) is used with this entry because Diamond-Blackfan
read moreanemia-4 (DBA4) is caused by mutation in the gene encoding ribosomal
protein S17 (RPS17; 180472) on chromosome 15q.
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Cmejla et al. (2007) screened the RPS17 gene in 124 Czech patients with
Diamond-Blackfan anemia, 6 of whom were already known to carry a
heterozygous mutation in the RPS19 gene (603474), and identified a
heterozygous mutation abolishing the translation initiation start codon
of the RPS17 gene (180472.0001) in a 31-year-old male patient. The
mutation was not found in his apparently healthy brother and parents or
in 71 controls. In addition to the typical macrocytic anemia with
increased activity of erythrocyte adenosine deaminase seen in DBA, the
patient had short stature, facial dysmorphism, and a flat thenar
eminence.
In a male patient who was diagnosed with DBA at 4 months of age and had
no associated malformations, Gazda et al. (2008) identified
heterozygosity for a 2-bp deletion in the RPS17 gene (180472.0002). The
mutation was not found in his unaffected parents or sister, or in at
least 150 controls.
Landowski et al. (2013) performed array CGH for copy number variation in
87 probands with Diamond-Blackfan anemia who were negative for mutation
in 10 known DBA-associated ribosomal protein genes and identified 2
nearly identical large deletions involving exons 3, 4, and 5 of the
RPS17 gene (180472.0003) in 2 male patients.
*FIELD* RF
1. Cmejla, R.; Cmejlova, J.; Handrkova, H.; Petrak, J.; Pospisilova,
D.: Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan
anemia. Hum. Mutat. 28: 1178-1182, 2007.
2. 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.
3. Landowski, M.; O'Donohue, M.-F.; Buros, C.; Ghazvinian, R.; Montel-Lehry,
N.; Vlachos, A.; Sieff, C. A.; Newburger, P. E.; Niewiadomska, E.;
Matysiak, M.; Glader, B.; Atsidaftos, E.; Lipton, J. M.; Beggs, A.
H.; Gleizes, P.-E.; Gazda, H. T.: Novel deletion of RPL15 identified
by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum.
Genet. 132: 1265-1274, 2013.
*FIELD* CN
Marla J. F. O'Neill - updated: 11/27/2013
Marla J. F. O'Neill - updated: 1/26/2009
*FIELD* CD
Marla J. F. O'Neill: 1/13/2009
*FIELD* ED
carol: 12/02/2013
mcolton: 11/27/2013
wwang: 1/28/2009
terry: 1/26/2009
carol: 1/13/2009