Full text data of RPS7
RPS7
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
40S ribosomal protein S7
Note: presumably soluble (membrane word is not in UniProt keywords or features)
40S ribosomal protein S7
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P62081
ID RS7_HUMAN Reviewed; 194 AA.
AC P62081; P23821; P24818; Q57Z92; Q6IPH1;
DT 21-JUN-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 21-JUN-2004, sequence version 1.
DT 22-JAN-2014, entry version 99.
DE RecName: Full=40S ribosomal protein S7;
GN Name=RPS7;
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 [GENOMIC DNA / MRNA].
RX PubMed=8522193; DOI=10.1016/0378-1119(95)00405-U;
RA Annilo T., Laan M., Stahl J., Metspalu A.;
RT "The human ribosomal protein S7-encoding gene: isolation, structure
RT and localization in 2p25.";
RL Gene 165:297-302(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Spleen;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Liver, and Lung;
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 [6]
RP PROTEIN SEQUENCE OF 170-177.
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 [7]
RP INTERACTION WITH IPO9.
RX PubMed=11823430; DOI=10.1093/emboj/21.3.377;
RA Jaekel S., Mingot J.-M., Schwarzmaier P., Hartmann E., Goerlich D.;
RT "Importins fulfill a dual function as nuclear import receptors and
RT cytoplasmic chaperones for exposed basic domains.";
RL EMBO J. 21:377-386(2002).
RN [8]
RP FUNCTION, AND INVOLVEMENT IN DBA8.
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 [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-74, AND MASS 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 SUBCELLULAR LOCATION, INTERACTION WITH NEK6, AND PHOSPHORYLATION BY
RP NEK6.
RX PubMed=20873783; DOI=10.1021/pr100562w;
RA Vaz Meirelles G., Ferreira Lanza D.C., da Silva J.C.,
RA Santana Bernachi J., Paes Leme A.F., Kobarg J.;
RT "Characterization of hNek6 interactome reveals an important role for
RT its short N-terminal domain and colocalization with proteins at the
RT centrosome.";
RL J. Proteome Res. 9:6298-6316(2010).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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) 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).
CC -!- FUNCTION: Required for rRNA maturation.
CC -!- SUBUNIT: Binds IPO9 with high affinity. Interacts with NEK6.
CC -!- INTERACTION:
CC Q00987:MDM2; NbExp=15; IntAct=EBI-354360, EBI-389668;
CC Q15843:NEDD8; NbExp=2; IntAct=EBI-354360, EBI-716247;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome. Note=Colocalizes with NEK6 in the
CC centrosome.
CC -!- PTM: Phosphorylated by NEK6.
CC -!- DISEASE: Diamond-Blackfan anemia 8 (DBA8) [MIM:612563]: 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 S7e family.
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DR EMBL; M77233; AAB00969.1; -; mRNA.
DR EMBL; Z25749; CAA81022.1; -; Genomic_DNA.
DR EMBL; AK311794; BAG34737.1; -; mRNA.
DR EMBL; AC108488; AAX82027.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX01057.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX01058.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX01059.1; -; Genomic_DNA.
DR EMBL; BC002866; AAH02866.1; -; mRNA.
DR EMBL; BC061901; AAH61901.1; -; mRNA.
DR EMBL; BC071919; AAH71919.1; -; mRNA.
DR PIR; JC4388; JC4388.
DR RefSeq; NP_001002.1; NM_001011.3.
DR RefSeq; XP_005263909.1; XM_005263852.1.
DR UniGene; Hs.534346; -.
DR UniGene; Hs.546287; -.
DR UniGene; Hs.646582; -.
DR PDB; 3J3A; EM; 5.00 A; H=1-194.
DR PDBsum; 3J3A; -.
DR ProteinModelPortal; P62081; -.
DR SMR; P62081; 5-194.
DR IntAct; P62081; 20.
DR MINT; MINT-5001160; -.
DR STRING; 9606.ENSP00000339095; -.
DR PhosphoSite; P62081; -.
DR DMDM; 49065831; -.
DR PaxDb; P62081; -.
DR PeptideAtlas; P62081; -.
DR PRIDE; P62081; -.
DR DNASU; 6201; -.
DR Ensembl; ENST00000304921; ENSP00000339095; ENSG00000171863.
DR Ensembl; ENST00000403564; ENSP00000385018; ENSG00000171863.
DR Ensembl; ENST00000406376; ENSP00000385286; ENSG00000171863.
DR GeneID; 6201; -.
DR KEGG; hsa:6201; -.
DR UCSC; uc002qxw.3; human.
DR CTD; 6201; -.
DR GeneCards; GC02P003622; -.
DR HGNC; HGNC:10440; RPS7.
DR MIM; 603658; gene.
DR MIM; 612563; phenotype.
DR neXtProt; NX_P62081; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34855; -.
DR eggNOG; NOG280542; -.
DR HOGENOM; HOG000197237; -.
DR HOVERGEN; HBG001698; -.
DR InParanoid; P62081; -.
DR KO; K02993; -.
DR OMA; IEVGHGK; -.
DR OrthoDB; EOG74J997; -.
DR PhylomeDB; P62081; -.
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; RPS7; human.
DR GeneWiki; RPS7; -.
DR GenomeRNAi; 6201; -.
DR NextBio; 24083; -.
DR PMAP-CutDB; P62081; -.
DR PRO; PR:P62081; -.
DR ArrayExpress; P62081; -.
DR Bgee; P62081; -.
DR CleanEx; HS_RPS7; -.
DR Genevestigator; P62081; -.
DR GO; GO:0030686; C:90S preribosome; IBA:RefGenome.
DR GO; GO:0022627; C:cytosolic small ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0032040; C:small-subunit processome; IBA:RefGenome.
DR GO; GO:0003723; F:RNA binding; NAS:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; IEA:InterPro.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0042274; P:ribosomal small 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 InterPro; IPR000554; Ribosomal_S7e.
DR PANTHER; PTHR11278; PTHR11278; 1.
DR Pfam; PF01251; Ribosomal_S7e; 1.
DR PROSITE; PS00948; RIBOSOMAL_S7E; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Complete proteome; Cytoplasm; Cytoskeleton;
KW Diamond-Blackfan anemia; Direct protein sequencing;
KW Reference proteome; Ribonucleoprotein; Ribosomal protein.
FT CHAIN 1 194 40S ribosomal protein S7.
FT /FTId=PRO_0000174190.
FT COMPBIAS 98 120 Arg/Lys-rich (basic).
FT MOD_RES 1 1 N-acetylmethionine (By similarity).
FT MOD_RES 74 74 N6-acetyllysine.
SQ SEQUENCE 194 AA; 22127 MW; E21089929CC061E9 CRC64;
MFSSSAKIVK PNGEKPDEFE SGISQALLEL EMNSDLKAQL RELNITAAKE IEVGGGRKAI
IIFVPVPQLK SFQKIQVRLV RELEKKFSGK HVVFIAQRRI LPKPTRKSRT KNKQKRPRSR
TLTAVHDAIL EDLVFPSEIV GKRIRVKLDG SRLIKVHLDK AQQNNVEHKV ETFSGVYKKL
TGKDVNFEFP EFQL
//
ID RS7_HUMAN Reviewed; 194 AA.
AC P62081; P23821; P24818; Q57Z92; Q6IPH1;
DT 21-JUN-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 21-JUN-2004, sequence version 1.
DT 22-JAN-2014, entry version 99.
DE RecName: Full=40S ribosomal protein S7;
GN Name=RPS7;
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 [GENOMIC DNA / MRNA].
RX PubMed=8522193; DOI=10.1016/0378-1119(95)00405-U;
RA Annilo T., Laan M., Stahl J., Metspalu A.;
RT "The human ribosomal protein S7-encoding gene: isolation, structure
RT and localization in 2p25.";
RL Gene 165:297-302(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Spleen;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
RA Waterston R.H., Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2
RT and 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Liver, and Lung;
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 [6]
RP PROTEIN SEQUENCE OF 170-177.
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 [7]
RP INTERACTION WITH IPO9.
RX PubMed=11823430; DOI=10.1093/emboj/21.3.377;
RA Jaekel S., Mingot J.-M., Schwarzmaier P., Hartmann E., Goerlich D.;
RT "Importins fulfill a dual function as nuclear import receptors and
RT cytoplasmic chaperones for exposed basic domains.";
RL EMBO J. 21:377-386(2002).
RN [8]
RP FUNCTION, AND INVOLVEMENT IN DBA8.
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 [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-74, AND MASS 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 SUBCELLULAR LOCATION, INTERACTION WITH NEK6, AND PHOSPHORYLATION BY
RP NEK6.
RX PubMed=20873783; DOI=10.1021/pr100562w;
RA Vaz Meirelles G., Ferreira Lanza D.C., da Silva J.C.,
RA Santana Bernachi J., Paes Leme A.F., Kobarg J.;
RT "Characterization of hNek6 interactome reveals an important role for
RT its short N-terminal domain and colocalization with proteins at the
RT centrosome.";
RL J. Proteome Res. 9:6298-6316(2010).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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) 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).
CC -!- FUNCTION: Required for rRNA maturation.
CC -!- SUBUNIT: Binds IPO9 with high affinity. Interacts with NEK6.
CC -!- INTERACTION:
CC Q00987:MDM2; NbExp=15; IntAct=EBI-354360, EBI-389668;
CC Q15843:NEDD8; NbExp=2; IntAct=EBI-354360, EBI-716247;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome. Note=Colocalizes with NEK6 in the
CC centrosome.
CC -!- PTM: Phosphorylated by NEK6.
CC -!- DISEASE: Diamond-Blackfan anemia 8 (DBA8) [MIM:612563]: 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 S7e family.
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DR EMBL; M77233; AAB00969.1; -; mRNA.
DR EMBL; Z25749; CAA81022.1; -; Genomic_DNA.
DR EMBL; AK311794; BAG34737.1; -; mRNA.
DR EMBL; AC108488; AAX82027.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX01057.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX01058.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX01059.1; -; Genomic_DNA.
DR EMBL; BC002866; AAH02866.1; -; mRNA.
DR EMBL; BC061901; AAH61901.1; -; mRNA.
DR EMBL; BC071919; AAH71919.1; -; mRNA.
DR PIR; JC4388; JC4388.
DR RefSeq; NP_001002.1; NM_001011.3.
DR RefSeq; XP_005263909.1; XM_005263852.1.
DR UniGene; Hs.534346; -.
DR UniGene; Hs.546287; -.
DR UniGene; Hs.646582; -.
DR PDB; 3J3A; EM; 5.00 A; H=1-194.
DR PDBsum; 3J3A; -.
DR ProteinModelPortal; P62081; -.
DR SMR; P62081; 5-194.
DR IntAct; P62081; 20.
DR MINT; MINT-5001160; -.
DR STRING; 9606.ENSP00000339095; -.
DR PhosphoSite; P62081; -.
DR DMDM; 49065831; -.
DR PaxDb; P62081; -.
DR PeptideAtlas; P62081; -.
DR PRIDE; P62081; -.
DR DNASU; 6201; -.
DR Ensembl; ENST00000304921; ENSP00000339095; ENSG00000171863.
DR Ensembl; ENST00000403564; ENSP00000385018; ENSG00000171863.
DR Ensembl; ENST00000406376; ENSP00000385286; ENSG00000171863.
DR GeneID; 6201; -.
DR KEGG; hsa:6201; -.
DR UCSC; uc002qxw.3; human.
DR CTD; 6201; -.
DR GeneCards; GC02P003622; -.
DR HGNC; HGNC:10440; RPS7.
DR MIM; 603658; gene.
DR MIM; 612563; phenotype.
DR neXtProt; NX_P62081; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34855; -.
DR eggNOG; NOG280542; -.
DR HOGENOM; HOG000197237; -.
DR HOVERGEN; HBG001698; -.
DR InParanoid; P62081; -.
DR KO; K02993; -.
DR OMA; IEVGHGK; -.
DR OrthoDB; EOG74J997; -.
DR PhylomeDB; P62081; -.
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; RPS7; human.
DR GeneWiki; RPS7; -.
DR GenomeRNAi; 6201; -.
DR NextBio; 24083; -.
DR PMAP-CutDB; P62081; -.
DR PRO; PR:P62081; -.
DR ArrayExpress; P62081; -.
DR Bgee; P62081; -.
DR CleanEx; HS_RPS7; -.
DR Genevestigator; P62081; -.
DR GO; GO:0030686; C:90S preribosome; IBA:RefGenome.
DR GO; GO:0022627; C:cytosolic small ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0005815; C:microtubule organizing center; IEA:UniProtKB-SubCell.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0032040; C:small-subunit processome; IBA:RefGenome.
DR GO; GO:0003723; F:RNA binding; NAS:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; IEA:InterPro.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0042274; P:ribosomal small 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 InterPro; IPR000554; Ribosomal_S7e.
DR PANTHER; PTHR11278; PTHR11278; 1.
DR Pfam; PF01251; Ribosomal_S7e; 1.
DR PROSITE; PS00948; RIBOSOMAL_S7E; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Complete proteome; Cytoplasm; Cytoskeleton;
KW Diamond-Blackfan anemia; Direct protein sequencing;
KW Reference proteome; Ribonucleoprotein; Ribosomal protein.
FT CHAIN 1 194 40S ribosomal protein S7.
FT /FTId=PRO_0000174190.
FT COMPBIAS 98 120 Arg/Lys-rich (basic).
FT MOD_RES 1 1 N-acetylmethionine (By similarity).
FT MOD_RES 74 74 N6-acetyllysine.
SQ SEQUENCE 194 AA; 22127 MW; E21089929CC061E9 CRC64;
MFSSSAKIVK PNGEKPDEFE SGISQALLEL EMNSDLKAQL RELNITAAKE IEVGGGRKAI
IIFVPVPQLK SFQKIQVRLV RELEKKFSGK HVVFIAQRRI LPKPTRKSRT KNKQKRPRSR
TLTAVHDAIL EDLVFPSEIV GKRIRVKLDG SRLIKVHLDK AQQNNVEHKV ETFSGVYKKL
TGKDVNFEFP EFQL
//
MIM
603658
*RECORD*
*FIELD* NO
603658
*FIELD* TI
*603658 RIBOSOMAL PROTEIN S7; RPS7
*FIELD* TX
DESCRIPTION
The eukaryotic ribosome consists of more than 80 different ribosomal
read moreproteins, including RPS7, and 4 RNA species (see 180450).
CLONING
Annilo et al. (1995) isolated cDNAs encoding RPS7 by screening a human
cDNA expression library with antibodies against rat Rps7. The deduced
194-amino acid human RPS7 protein is identical to rat Rps7. Northern
blot analysis detected an approximately 0.7-kb RPS7 transcript in HeLa
cells. The authors identified several RPS7 pseudogenes.
GENE STRUCTURE
Annilo et al. (1995) determined that the RPS7 gene contains 7 exons and
spans over 6 kb.
MAPPING
By FISH, Annilo et al. (1995) mapped the RPS7 gene to chromosome 2p25.
Kenmochi et al. (1998) confirmed the mapping assignment reported by
Annilo et al. (1995).
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
(see DBA8, 612563) for mutations in 25 genes encoding ribosomal proteins
and identified a splice site mutation in the RPS7 gene in 1 proband
(603658.0001). The mutation was not found in his unaffected sister or at
least 150 controls, and functional studies strongly suggested that
mutation in RPS7 is associated with defects in the maturation of
ribosomal RNAs.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 8
RPS7, IVS3DS, G-A, +1
In a male patient with Diamond-Blackfan anemia (DBA8; 612563) who had no
associated malformations, Gazda et al. (2008) identified heterozygosity
for a G-A transition at the donor splice site in intron 3 (IVS3DS+1G-A)
of the RPS7 gene. The mutation was not found in his unaffected sister or
in at least 150 controls. Lymphoblastoid cells established from the
patient's cells displayed higher levels of 45S and 30S pre-rRNAs
compared to cells derived from an unaffected sibling; siRNA knockdown of
RPS7 synthesis in HeLa cells resulted in a strong defect in 5-prime ETS
processing, with accumulation of 45S and 30S pre-rRNAs and a marked
decrease in the 41S, 21S, and 18S-E intermediates, whereas levels of
precursors to the large ribosomal subunit RNAs were unchanged.
*FIELD* RF
1. Annilo, T.; Laan, M.; Stahl, J.; Metspalu, A.: The human ribosomal
protein S7-encoding gene: isolation, structure and localization in
2p25. Gene 165: 297-302, 1995.
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. 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.
*FIELD* CN
Marla J. F. O'Neill - updated: 1/26/2009
*FIELD* CD
Patti M. Sherman: 3/18/1999
*FIELD* ED
wwang: 01/29/2009
terry: 1/26/2009
carol: 3/19/1999
*RECORD*
*FIELD* NO
603658
*FIELD* TI
*603658 RIBOSOMAL PROTEIN S7; RPS7
*FIELD* TX
DESCRIPTION
The eukaryotic ribosome consists of more than 80 different ribosomal
read moreproteins, including RPS7, and 4 RNA species (see 180450).
CLONING
Annilo et al. (1995) isolated cDNAs encoding RPS7 by screening a human
cDNA expression library with antibodies against rat Rps7. The deduced
194-amino acid human RPS7 protein is identical to rat Rps7. Northern
blot analysis detected an approximately 0.7-kb RPS7 transcript in HeLa
cells. The authors identified several RPS7 pseudogenes.
GENE STRUCTURE
Annilo et al. (1995) determined that the RPS7 gene contains 7 exons and
spans over 6 kb.
MAPPING
By FISH, Annilo et al. (1995) mapped the RPS7 gene to chromosome 2p25.
Kenmochi et al. (1998) confirmed the mapping assignment reported by
Annilo et al. (1995).
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
(see DBA8, 612563) for mutations in 25 genes encoding ribosomal proteins
and identified a splice site mutation in the RPS7 gene in 1 proband
(603658.0001). The mutation was not found in his unaffected sister or at
least 150 controls, and functional studies strongly suggested that
mutation in RPS7 is associated with defects in the maturation of
ribosomal RNAs.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 8
RPS7, IVS3DS, G-A, +1
In a male patient with Diamond-Blackfan anemia (DBA8; 612563) who had no
associated malformations, Gazda et al. (2008) identified heterozygosity
for a G-A transition at the donor splice site in intron 3 (IVS3DS+1G-A)
of the RPS7 gene. The mutation was not found in his unaffected sister or
in at least 150 controls. Lymphoblastoid cells established from the
patient's cells displayed higher levels of 45S and 30S pre-rRNAs
compared to cells derived from an unaffected sibling; siRNA knockdown of
RPS7 synthesis in HeLa cells resulted in a strong defect in 5-prime ETS
processing, with accumulation of 45S and 30S pre-rRNAs and a marked
decrease in the 41S, 21S, and 18S-E intermediates, whereas levels of
precursors to the large ribosomal subunit RNAs were unchanged.
*FIELD* RF
1. Annilo, T.; Laan, M.; Stahl, J.; Metspalu, A.: The human ribosomal
protein S7-encoding gene: isolation, structure and localization in
2p25. Gene 165: 297-302, 1995.
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. 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.
*FIELD* CN
Marla J. F. O'Neill - updated: 1/26/2009
*FIELD* CD
Patti M. Sherman: 3/18/1999
*FIELD* ED
wwang: 01/29/2009
terry: 1/26/2009
carol: 3/19/1999
MIM
612563
*RECORD*
*FIELD* NO
612563
*FIELD* TI
#612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8
*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 S7 (RPS7; 603658).
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
for mutations in 25 genes encoding ribosomal proteins and identified a
splice site mutation in the RP7 gene (603658.0001) in 1 proband, who had
no associated malformations. The mutation was not found in his
unaffected sister or at least 150 controls, and functional studies
demonstrated defects in the maturation of ribosomal RNAs associated with
mutation in the RPS7 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
612563
*FIELD* TI
#612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8
*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 S7 (RPS7; 603658).
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia
for mutations in 25 genes encoding ribosomal proteins and identified a
splice site mutation in the RP7 gene (603658.0001) in 1 proband, who had
no associated malformations. The mutation was not found in his
unaffected sister or at least 150 controls, and functional studies
demonstrated defects in the maturation of ribosomal RNAs associated with
mutation in the RPS7 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