Full text data of RPS26
RPS26
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
40S ribosomal protein S26
Note: presumably soluble (membrane word is not in UniProt keywords or features)
40S ribosomal protein S26
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P62854
ID RS26_HUMAN Reviewed; 115 AA.
AC P62854; P02383; P70394; Q06722; Q3MHD8; Q6IRY4;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 3.
DT 22-JAN-2014, entry version 97.
DE RecName: Full=40S ribosomal protein S26;
GN Name=RPS26;
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=8464749; DOI=10.1093/nar/21.6.1498;
RA Vincent S., Marty L., Fort P.;
RT "S26 ribosomal protein RNA: an invariant control for gene regulation
RT experiments in eucaryotic cells and tissues.";
RL Nucleic Acids Res. 21:1498-1498(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Placenta;
RX PubMed=7945460;
RA Filipenko M.L., Vladimirov S.N., Muravlev A.I., Karpova G.G.,
RA Mertvetsov N.P.;
RT "Cloning cDNA of human S26 ribosomal protein and determination of its
RT primary structure.";
RL Bioorg. Khim. 20:644-649(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Placenta;
RX PubMed=9602156; DOI=10.1016/S0378-1119(98)00108-5;
RA Filipenko M.L., Vinichenko N.A., Karpova G.G., Mertvetsov N.P.,
RA Amaldi F.;
RT "Isolation, structural analysis and mapping of the functional gene of
RT human ribosomal protein S26.";
RL Gene 211:287-292(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Lymph, and Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PROTEIN SEQUENCE OF 2-11.
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [7]
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 [8]
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).
RN [9]
RP VARIANTS DBA10 ASN-33 AND THR-115.
RX PubMed=20116044; DOI=10.1016/j.ajhg.2009.12.015;
RA Doherty L., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.F.,
RA Clinton C., Schneider H.E., Sieff C.A., Newburger P.E., Ball S.E.,
RA Niewiadomska E., Matysiak M., Glader B., Arceci R.J., Farrar J.E.,
RA Atsidaftos E., Lipton J.M., Gleizes P.E., Gazda H.T.;
RT "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in
RT Diamond-Blackfan anemia.";
RL Am. J. Hum. Genet. 86:222-228(2010).
RN [10]
RP ERRATUM.
RA Doherty L., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.F.,
RA Clinton C., Schneider H.E., Sieff C.A., Newburger P.E., Ball S.E.,
RA Niewiadomska E., Matysiak M., Glader B., Arceci R.J., Farrar J.E.,
RA Atsidaftos E., Lipton J.M., Gleizes P.E., Gazda H.T.;
RL Am. J. Hum. Genet. 86:655-655(2010).
CC -!- INTERACTION:
CC Q969E8:TSR2; NbExp=3; IntAct=EBI-353438, EBI-746981;
CC -!- DISEASE: Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: 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 S26e family.
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; X69654; CAA49345.1; -; mRNA.
DR EMBL; X77770; CAA54808.1; -; mRNA.
DR EMBL; X79236; CAA55818.1; -; Genomic_DNA.
DR EMBL; U41448; AAC26987.1; -; Genomic_DNA.
DR EMBL; BC002604; AAH02604.1; -; mRNA.
DR EMBL; BC015832; AAH15832.1; -; mRNA.
DR EMBL; BC070220; AAH70220.1; -; mRNA.
DR EMBL; BC105276; AAI05277.1; -; mRNA.
DR EMBL; BC105798; AAI05799.1; -; mRNA.
DR PIR; S55545; S55545.
DR PIR; T50824; T50824.
DR RefSeq; NP_001020.2; NM_001029.3.
DR RefSeq; XP_005276741.1; XM_005276684.1.
DR UniGene; Hs.447562; -.
DR UniGene; Hs.567235; -.
DR UniGene; Hs.711461; -.
DR PDB; 3J3A; EM; 5.00 A; a=1-115.
DR PDBsum; 3J3A; -.
DR ProteinModelPortal; P62854; -.
DR SMR; P62854; 2-108.
DR IntAct; P62854; 15.
DR MINT; MINT-4824850; -.
DR STRING; 9606.ENSP00000348849; -.
DR PhosphoSite; P62854; -.
DR DMDM; 51338650; -.
DR PaxDb; P62854; -.
DR PRIDE; P62854; -.
DR DNASU; 6231; -.
DR Ensembl; ENST00000356464; ENSP00000348849; ENSG00000197728.
DR Ensembl; ENST00000552361; ENSP00000450339; ENSG00000197728.
DR GeneID; 101929876; -.
DR GeneID; 6231; -.
DR KEGG; hsa:6231; -.
DR UCSC; uc001sjf.3; human.
DR CTD; 6231; -.
DR GeneCards; GC12P056438; -.
DR H-InvDB; HIX0161895; -.
DR HGNC; HGNC:10414; RPS26.
DR HPA; HPA043961; -.
DR MIM; 603701; gene.
DR MIM; 613309; phenotype.
DR neXtProt; NX_P62854; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34818; -.
DR eggNOG; COG4830; -.
DR HOGENOM; HOG000108824; -.
DR HOVERGEN; HBG079147; -.
DR InParanoid; P62854; -.
DR KO; K02976; -.
DR OMA; ASVYQEY; -.
DR OrthoDB; EOG7B31Q7; -.
DR PhylomeDB; P62854; -.
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; RPS26; -.
DR GenomeRNAi; 6231; -.
DR NextBio; 24189; -.
DR PRO; PR:P62854; -.
DR ArrayExpress; P62854; -.
DR Bgee; P62854; -.
DR CleanEx; HS_RPS26; -.
DR Genevestigator; P62854; -.
DR GO; GO:0022627; C:cytosolic small ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003729; F:mRNA binding; IDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; IEA:InterPro.
DR GO; GO:0033119; P:negative regulation of RNA splicing; IDA:UniProtKB.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
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; IPR000892; Ribosomal_S26e.
DR PANTHER; PTHR12538; PTHR12538; 1.
DR Pfam; PF01283; Ribosomal_S26e; 1.
DR PROSITE; PS00733; RIBOSOMAL_S26E; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Diamond-Blackfan anemia;
KW Direct protein sequencing; Disease mutation; Reference proteome;
KW Ribonucleoprotein; Ribosomal protein.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 115 40S ribosomal protein S26.
FT /FTId=PRO_0000204509.
FT VARIANT 33 33 D -> N (in DBA10).
FT /FTId=VAR_063580.
FT VARIANT 115 115 M -> T (in DBA10).
FT /FTId=VAR_063581.
FT CONFLICT 78 78 A -> V (in Ref. 2; CAA54808).
FT CONFLICT 109 109 R -> A (in Ref. 1; CAA49345).
SQ SEQUENCE 115 AA; 13015 MW; F60DF98F8900D968 CRC64;
MTKKRRNNGR AKKGRGHVQP IRCTNCARCV PKDKAIKKFV IRNIVEAAAV RDISEASVFD
AYVLPKLYVK LHYCVSCAIH SKVVRNRSRE ARKDRTPPPR FRPAGAAPRP PPKPM
//
ID RS26_HUMAN Reviewed; 115 AA.
AC P62854; P02383; P70394; Q06722; Q3MHD8; Q6IRY4;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 3.
DT 22-JAN-2014, entry version 97.
DE RecName: Full=40S ribosomal protein S26;
GN Name=RPS26;
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=8464749; DOI=10.1093/nar/21.6.1498;
RA Vincent S., Marty L., Fort P.;
RT "S26 ribosomal protein RNA: an invariant control for gene regulation
RT experiments in eucaryotic cells and tissues.";
RL Nucleic Acids Res. 21:1498-1498(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Placenta;
RX PubMed=7945460;
RA Filipenko M.L., Vladimirov S.N., Muravlev A.I., Karpova G.G.,
RA Mertvetsov N.P.;
RT "Cloning cDNA of human S26 ribosomal protein and determination of its
RT primary structure.";
RL Bioorg. Khim. 20:644-649(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Placenta;
RX PubMed=9602156; DOI=10.1016/S0378-1119(98)00108-5;
RA Filipenko M.L., Vinichenko N.A., Karpova G.G., Mertvetsov N.P.,
RA Amaldi F.;
RT "Isolation, structural analysis and mapping of the functional gene of
RT human ribosomal protein S26.";
RL Gene 211:287-292(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, Lymph, and Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PROTEIN SEQUENCE OF 2-11.
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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 [7]
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 [8]
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).
RN [9]
RP VARIANTS DBA10 ASN-33 AND THR-115.
RX PubMed=20116044; DOI=10.1016/j.ajhg.2009.12.015;
RA Doherty L., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.F.,
RA Clinton C., Schneider H.E., Sieff C.A., Newburger P.E., Ball S.E.,
RA Niewiadomska E., Matysiak M., Glader B., Arceci R.J., Farrar J.E.,
RA Atsidaftos E., Lipton J.M., Gleizes P.E., Gazda H.T.;
RT "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in
RT Diamond-Blackfan anemia.";
RL Am. J. Hum. Genet. 86:222-228(2010).
RN [10]
RP ERRATUM.
RA Doherty L., Sheen M.R., Vlachos A., Choesmel V., O'Donohue M.F.,
RA Clinton C., Schneider H.E., Sieff C.A., Newburger P.E., Ball S.E.,
RA Niewiadomska E., Matysiak M., Glader B., Arceci R.J., Farrar J.E.,
RA Atsidaftos E., Lipton J.M., Gleizes P.E., Gazda H.T.;
RL Am. J. Hum. Genet. 86:655-655(2010).
CC -!- INTERACTION:
CC Q969E8:TSR2; NbExp=3; IntAct=EBI-353438, EBI-746981;
CC -!- DISEASE: Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: 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 S26e family.
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; X69654; CAA49345.1; -; mRNA.
DR EMBL; X77770; CAA54808.1; -; mRNA.
DR EMBL; X79236; CAA55818.1; -; Genomic_DNA.
DR EMBL; U41448; AAC26987.1; -; Genomic_DNA.
DR EMBL; BC002604; AAH02604.1; -; mRNA.
DR EMBL; BC015832; AAH15832.1; -; mRNA.
DR EMBL; BC070220; AAH70220.1; -; mRNA.
DR EMBL; BC105276; AAI05277.1; -; mRNA.
DR EMBL; BC105798; AAI05799.1; -; mRNA.
DR PIR; S55545; S55545.
DR PIR; T50824; T50824.
DR RefSeq; NP_001020.2; NM_001029.3.
DR RefSeq; XP_005276741.1; XM_005276684.1.
DR UniGene; Hs.447562; -.
DR UniGene; Hs.567235; -.
DR UniGene; Hs.711461; -.
DR PDB; 3J3A; EM; 5.00 A; a=1-115.
DR PDBsum; 3J3A; -.
DR ProteinModelPortal; P62854; -.
DR SMR; P62854; 2-108.
DR IntAct; P62854; 15.
DR MINT; MINT-4824850; -.
DR STRING; 9606.ENSP00000348849; -.
DR PhosphoSite; P62854; -.
DR DMDM; 51338650; -.
DR PaxDb; P62854; -.
DR PRIDE; P62854; -.
DR DNASU; 6231; -.
DR Ensembl; ENST00000356464; ENSP00000348849; ENSG00000197728.
DR Ensembl; ENST00000552361; ENSP00000450339; ENSG00000197728.
DR GeneID; 101929876; -.
DR GeneID; 6231; -.
DR KEGG; hsa:6231; -.
DR UCSC; uc001sjf.3; human.
DR CTD; 6231; -.
DR GeneCards; GC12P056438; -.
DR H-InvDB; HIX0161895; -.
DR HGNC; HGNC:10414; RPS26.
DR HPA; HPA043961; -.
DR MIM; 603701; gene.
DR MIM; 613309; phenotype.
DR neXtProt; NX_P62854; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34818; -.
DR eggNOG; COG4830; -.
DR HOGENOM; HOG000108824; -.
DR HOVERGEN; HBG079147; -.
DR InParanoid; P62854; -.
DR KO; K02976; -.
DR OMA; ASVYQEY; -.
DR OrthoDB; EOG7B31Q7; -.
DR PhylomeDB; P62854; -.
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; RPS26; -.
DR GenomeRNAi; 6231; -.
DR NextBio; 24189; -.
DR PRO; PR:P62854; -.
DR ArrayExpress; P62854; -.
DR Bgee; P62854; -.
DR CleanEx; HS_RPS26; -.
DR Genevestigator; P62854; -.
DR GO; GO:0022627; C:cytosolic small ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003729; F:mRNA binding; IDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; IEA:InterPro.
DR GO; GO:0033119; P:negative regulation of RNA splicing; IDA:UniProtKB.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
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; IPR000892; Ribosomal_S26e.
DR PANTHER; PTHR12538; PTHR12538; 1.
DR Pfam; PF01283; Ribosomal_S26e; 1.
DR PROSITE; PS00733; RIBOSOMAL_S26E; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Complete proteome; Diamond-Blackfan anemia;
KW Direct protein sequencing; Disease mutation; Reference proteome;
KW Ribonucleoprotein; Ribosomal protein.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 115 40S ribosomal protein S26.
FT /FTId=PRO_0000204509.
FT VARIANT 33 33 D -> N (in DBA10).
FT /FTId=VAR_063580.
FT VARIANT 115 115 M -> T (in DBA10).
FT /FTId=VAR_063581.
FT CONFLICT 78 78 A -> V (in Ref. 2; CAA54808).
FT CONFLICT 109 109 R -> A (in Ref. 1; CAA49345).
SQ SEQUENCE 115 AA; 13015 MW; F60DF98F8900D968 CRC64;
MTKKRRNNGR AKKGRGHVQP IRCTNCARCV PKDKAIKKFV IRNIVEAAAV RDISEASVFD
AYVLPKLYVK LHYCVSCAIH SKVVRNRSRE ARKDRTPPPR FRPAGAAPRP PPKPM
//
MIM
603701
*RECORD*
*FIELD* NO
603701
*FIELD* TI
*603701 RIBOSOMAL PROTEIN S26; RPS26
*FIELD* TX
DESCRIPTION
The eukaryotic ribosome is composed of 4 RNA species (see 180450) and
read moreapproximately 80 different proteins. The ribosomal protein genes appear
to be members of multigene families, most of which contain multiple
processed pseudogenes and 1 intron-containing functional gene.
CLONING
Vincent et al. (1993) isolated a HeLa cell cDNA encoding ribosomal
protein S26 (RPS26). Northern blot analysis demonstrated that the 600-
to 700-bp RPS26 transcript is expressed at high and comparable levels in
various human adult tissues. The deduced RPS26 protein has 115 amino
acids (SWISS-PROT SWISSPROT Q06722).
GENE STRUCTURE
Filipenko et al. (1998) isolated the genomic sequence of the functional
RPS26 gene using PCR. The RPS26 gene has 4 exons which span 2,027 bp and
result in an mRNA of 438 bp, plus the poly(A) tail. Like other
vertebrate ribosomal protein genes, the RPS26 gene has a transcription
start site that is located within a polypyrimidine tract, and a short
5-prime untranslated region.
MAPPING
By analysis of somatic cell hybrids, Filipenko et al. (1998) mapped the
intron-containing RPS26 gene to chromosome 12. Kenmochi et al. (1998)
mapped the RPS26 gene to 12q using somatic cell hybrid and radiation
hybrid mapping analyses.
GENE FUNCTION
Using siRNA knockdown in HeLa cells to analyze the role of RPS26 in
pre-rRNA processing, Doherty et al. (2010) found that depletion of RPS26
led to decreased levels of 18S rRNA, indicating that RPS26 is necessary
for production of the small subunit. RNA blot analysis showed
accumulation of 43S, 26S, and 18S-E pre-rRNAs, consistent with defects
in cleavage at both ends of the 18S rRNA.
MOLECULAR GENETICS
Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort
of 117 patients with Diamond-Blackfan anemia (see DBA10, 613309) and
identified 9 different mutations in the RPS26 gene in 12 patients (see,
e.g., 603701.0001-603701.0005). None of the mutations were found in at
least 520 chromosomes from a control population of similar, largely
European origin. Six probands had a mutation in the first codon,
changing met to leu, val, or arg, suggesting that the translation
initiation codon may be a hotspot in RPS26. Doherty et al. (2010) noted
that 1 of the mutation-positive patients (603701.0002) had cleft lip and
palate, making RPS26 the third DBA gene in which mutation is associated
with clefting in DBA.
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 a
large deletion encompassing all 4 exons of the RPS26 gene (603701.0006)
in a transfusion-dependent female patient.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 10
RPS26, MET1VAL
In 6 patients with Diamond-Blackfan anemia-10 (613309) from 4 families,
Doherty et al. (2010) identified heterozygosity for a 1A-G transition in
exon 1 of the RPS26 gene, causing a met1-to-val (M1V) substitution that
eliminates the start codon and is predicted to result in an untranslated
protein. The mutation was not found in the unaffected parents of 2 of
the probands or in at least 520 control chromosomes. Of the 6 patients
with the M1V mutation, 3 were responsive to initial steroid therapy and
3 were unresponsive; in 1 father-daughter pair, the father was
responsive and the daughter was unresponsive. Three of the patients were
receiving red blood cell transfusions, 2 were on steroid therapy, and 1
required no therapy. One of the male patients, who was diagnosed at 7
weeks of age, also had duplicated pelvis and calyx of the right kidney.
.0002
DIAMOND-BLACKFAN ANEMIA 10
RPS26, MET1LEU
In a male patient with Diamond-Blackfan anemia-10 (613309), Doherty et
al. (2010) identified heterozygosity for a 1A-T transition in exon 1 of
the RPS26 gene, causing a met1-to-leu (M1L) substitution that eliminates
the start codon and is predicted to result in an untranslated protein.
The mutation was not found in his unaffected parents and sister or in at
least 520 control chromosomes. The patient, who was responsive to
steroid therapy, also had cleft lip and palate.
.0003
DIAMOND-BLACKFAN ANEMIA 10
RPS26, ASP33ASN
In a male patient who was diagnosed at 8 months of age with
Diamond-Blackfan anemia (613309), Doherty et al. (2010) identified
heterozygosity for a 97G-A transition in exon 2 of the RPS26 gene,
resulting in an asp33-to-asn (D33N) substitution. The mutation was not
found in his unaffected parents or sister, or in at least 520 control
chromosomes. Other features in this patient included inguinal hernia,
unilaterally absent vas deferens, abnormal epididymis, and pronounced
bony prominence of a cervical spinous process.
.0004
DIAMOND-BLACKFAN ANEMIA 10
RPS26, 1-BP INS, 31G
In a female patient with Diamond-Blackfan anemia-10 (613309), Doherty et
al. (2010) identified heterozygosity for a 1-bp insertion (31insG) in
exon 2 of the RPS26 gene, causing a frameshift and resulting in a
termination sequence at codon 25. The mutation was not found in at least
520 control chromosomes. The patient, who had no associated
malformations, had been unresponsive to initial steroid therapy and was
deceased.
.0005
DIAMOND-BLACKFAN ANEMIA 10
RPS26, IVS1, G-A, +1
In a male patient with Diamond-Blackfan anemia-10 (613309), Doherty et
al. (2010) identified heterozygosity for a splice site mutation (+1G-A)
in intron 1 of the RPS26 gene. The de novo mutation was not found in
either of his parents or an unaffected sister and brother, or in at
least 520 control chromosomes. The patient, who had been unresponsive to
initial steroid therapy, was deceased.
.0006
DIAMOND-BLACKFAN ANEMIA 10
RPS26, 20,456-BP DEL
In a transfusion-dependent female patient with Diamond-Blackfan anemia
(DBA10; 613309), Landowski et al. (2013) identified heterozygosity for a
20,456-bp deletion at Chr12:54,711,095-54,731,551, encompassing all 4
exons of the RPS26 gene. Validation by mPCR showed that PCR product from
all 4 exons was significantly decreased; mPCR in her unaffected parents
showed ratios similar to controls, indicating that the mutation arose de
novo in the patient.
*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. Filipenko, M. L.; Vinichenko, N. A.; Karpova, G. G.; Mertvetsov,
N. P.; Amaldi, F.: Isolation, structural analysis and mapping of
the functional gene of human ribosomal protein S26. Gene 211: 287-292,
1998.
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.
4. 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.
5. Vincent, S.; Marty, L.; Fort, P.: S26 ribosomal protein RNA: an
invariant control for gene regulation experiments in eukaryotic cells
and tissues. Nucleic Acids Res. 21: 1498 only, 1993.
*FIELD* CN
Marla J. F. O'Neill - updated: 12/2/2013
Marla J. F. O'Neill - updated: 3/18/2010
*FIELD* CD
Patti M. Sherman: 4/6/1999
*FIELD* ED
carol: 12/02/2013
mcolton: 12/2/2013
alopez: 6/18/2010
wwang: 5/12/2010
carol: 3/18/2010
psherman: 4/20/1999
carol: 4/16/1999
*RECORD*
*FIELD* NO
603701
*FIELD* TI
*603701 RIBOSOMAL PROTEIN S26; RPS26
*FIELD* TX
DESCRIPTION
The eukaryotic ribosome is composed of 4 RNA species (see 180450) and
read moreapproximately 80 different proteins. The ribosomal protein genes appear
to be members of multigene families, most of which contain multiple
processed pseudogenes and 1 intron-containing functional gene.
CLONING
Vincent et al. (1993) isolated a HeLa cell cDNA encoding ribosomal
protein S26 (RPS26). Northern blot analysis demonstrated that the 600-
to 700-bp RPS26 transcript is expressed at high and comparable levels in
various human adult tissues. The deduced RPS26 protein has 115 amino
acids (SWISS-PROT SWISSPROT Q06722).
GENE STRUCTURE
Filipenko et al. (1998) isolated the genomic sequence of the functional
RPS26 gene using PCR. The RPS26 gene has 4 exons which span 2,027 bp and
result in an mRNA of 438 bp, plus the poly(A) tail. Like other
vertebrate ribosomal protein genes, the RPS26 gene has a transcription
start site that is located within a polypyrimidine tract, and a short
5-prime untranslated region.
MAPPING
By analysis of somatic cell hybrids, Filipenko et al. (1998) mapped the
intron-containing RPS26 gene to chromosome 12. Kenmochi et al. (1998)
mapped the RPS26 gene to 12q using somatic cell hybrid and radiation
hybrid mapping analyses.
GENE FUNCTION
Using siRNA knockdown in HeLa cells to analyze the role of RPS26 in
pre-rRNA processing, Doherty et al. (2010) found that depletion of RPS26
led to decreased levels of 18S rRNA, indicating that RPS26 is necessary
for production of the small subunit. RNA blot analysis showed
accumulation of 43S, 26S, and 18S-E pre-rRNAs, consistent with defects
in cleavage at both ends of the 18S rRNA.
MOLECULAR GENETICS
Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort
of 117 patients with Diamond-Blackfan anemia (see DBA10, 613309) and
identified 9 different mutations in the RPS26 gene in 12 patients (see,
e.g., 603701.0001-603701.0005). None of the mutations were found in at
least 520 chromosomes from a control population of similar, largely
European origin. Six probands had a mutation in the first codon,
changing met to leu, val, or arg, suggesting that the translation
initiation codon may be a hotspot in RPS26. Doherty et al. (2010) noted
that 1 of the mutation-positive patients (603701.0002) had cleft lip and
palate, making RPS26 the third DBA gene in which mutation is associated
with clefting in DBA.
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 a
large deletion encompassing all 4 exons of the RPS26 gene (603701.0006)
in a transfusion-dependent female patient.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 10
RPS26, MET1VAL
In 6 patients with Diamond-Blackfan anemia-10 (613309) from 4 families,
Doherty et al. (2010) identified heterozygosity for a 1A-G transition in
exon 1 of the RPS26 gene, causing a met1-to-val (M1V) substitution that
eliminates the start codon and is predicted to result in an untranslated
protein. The mutation was not found in the unaffected parents of 2 of
the probands or in at least 520 control chromosomes. Of the 6 patients
with the M1V mutation, 3 were responsive to initial steroid therapy and
3 were unresponsive; in 1 father-daughter pair, the father was
responsive and the daughter was unresponsive. Three of the patients were
receiving red blood cell transfusions, 2 were on steroid therapy, and 1
required no therapy. One of the male patients, who was diagnosed at 7
weeks of age, also had duplicated pelvis and calyx of the right kidney.
.0002
DIAMOND-BLACKFAN ANEMIA 10
RPS26, MET1LEU
In a male patient with Diamond-Blackfan anemia-10 (613309), Doherty et
al. (2010) identified heterozygosity for a 1A-T transition in exon 1 of
the RPS26 gene, causing a met1-to-leu (M1L) substitution that eliminates
the start codon and is predicted to result in an untranslated protein.
The mutation was not found in his unaffected parents and sister or in at
least 520 control chromosomes. The patient, who was responsive to
steroid therapy, also had cleft lip and palate.
.0003
DIAMOND-BLACKFAN ANEMIA 10
RPS26, ASP33ASN
In a male patient who was diagnosed at 8 months of age with
Diamond-Blackfan anemia (613309), Doherty et al. (2010) identified
heterozygosity for a 97G-A transition in exon 2 of the RPS26 gene,
resulting in an asp33-to-asn (D33N) substitution. The mutation was not
found in his unaffected parents or sister, or in at least 520 control
chromosomes. Other features in this patient included inguinal hernia,
unilaterally absent vas deferens, abnormal epididymis, and pronounced
bony prominence of a cervical spinous process.
.0004
DIAMOND-BLACKFAN ANEMIA 10
RPS26, 1-BP INS, 31G
In a female patient with Diamond-Blackfan anemia-10 (613309), Doherty et
al. (2010) identified heterozygosity for a 1-bp insertion (31insG) in
exon 2 of the RPS26 gene, causing a frameshift and resulting in a
termination sequence at codon 25. The mutation was not found in at least
520 control chromosomes. The patient, who had no associated
malformations, had been unresponsive to initial steroid therapy and was
deceased.
.0005
DIAMOND-BLACKFAN ANEMIA 10
RPS26, IVS1, G-A, +1
In a male patient with Diamond-Blackfan anemia-10 (613309), Doherty et
al. (2010) identified heterozygosity for a splice site mutation (+1G-A)
in intron 1 of the RPS26 gene. The de novo mutation was not found in
either of his parents or an unaffected sister and brother, or in at
least 520 control chromosomes. The patient, who had been unresponsive to
initial steroid therapy, was deceased.
.0006
DIAMOND-BLACKFAN ANEMIA 10
RPS26, 20,456-BP DEL
In a transfusion-dependent female patient with Diamond-Blackfan anemia
(DBA10; 613309), Landowski et al. (2013) identified heterozygosity for a
20,456-bp deletion at Chr12:54,711,095-54,731,551, encompassing all 4
exons of the RPS26 gene. Validation by mPCR showed that PCR product from
all 4 exons was significantly decreased; mPCR in her unaffected parents
showed ratios similar to controls, indicating that the mutation arose de
novo in the patient.
*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. Filipenko, M. L.; Vinichenko, N. A.; Karpova, G. G.; Mertvetsov,
N. P.; Amaldi, F.: Isolation, structural analysis and mapping of
the functional gene of human ribosomal protein S26. Gene 211: 287-292,
1998.
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.
4. 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.
5. Vincent, S.; Marty, L.; Fort, P.: S26 ribosomal protein RNA: an
invariant control for gene regulation experiments in eukaryotic cells
and tissues. Nucleic Acids Res. 21: 1498 only, 1993.
*FIELD* CN
Marla J. F. O'Neill - updated: 12/2/2013
Marla J. F. O'Neill - updated: 3/18/2010
*FIELD* CD
Patti M. Sherman: 4/6/1999
*FIELD* ED
carol: 12/02/2013
mcolton: 12/2/2013
alopez: 6/18/2010
wwang: 5/12/2010
carol: 3/18/2010
psherman: 4/20/1999
carol: 4/16/1999
MIM
613309
*RECORD*
*FIELD* NO
613309
*FIELD* TI
#613309 DIAMOND-BLACKFAN ANEMIA 10; DBA10
*FIELD* TX
A number sign (#) is used with this entry because Diamond-Blackfan
read moreanemia-10 (DBA10) is caused by heterozygous mutation in the gene
encoding ribosomal protein S26 (RPS26; 603701) on chromosome 12q.
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort
of 117 patients with Diamond-Blackfan anemia who were negative for
mutation in 7 known DBA genes and identified 9 mutations in the RPS26
gene in 12 probands (see, e.g., 603701.0001-603701.0005). None of the
mutations were found in at least 520 chromosomes from a control
population of similar, largely European origin. Doherty et al. (2010)
noted that 1 of the mutation-positive patients (see 603701.0002) had
cleft lip and palate, making RPS26 the third gene causing DBA, the other
2 being RPL5 (603634) and RPL11 (604175), in which mutation is
associated with clefting. The authors estimated that RPS26 mutations are
present in about 6.4% of the overall DBA population.
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 a
large deletion encompassing all 4 exons of the RPS26 gene (603701.0006)
in a transfusion-dependent female patient.
*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. 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: 12/2/2013
*FIELD* CD
Marla J. F. O'Neill: 3/18/2010
*FIELD* ED
carol: 12/02/2013
mcolton: 12/2/2013
alopez: 6/18/2010
wwang: 5/12/2010
carol: 3/18/2010
*RECORD*
*FIELD* NO
613309
*FIELD* TI
#613309 DIAMOND-BLACKFAN ANEMIA 10; DBA10
*FIELD* TX
A number sign (#) is used with this entry because Diamond-Blackfan
read moreanemia-10 (DBA10) is caused by heterozygous mutation in the gene
encoding ribosomal protein S26 (RPS26; 603701) on chromosome 12q.
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Doherty et al. (2010) sequenced 35 ribosomal protein genes in a cohort
of 117 patients with Diamond-Blackfan anemia who were negative for
mutation in 7 known DBA genes and identified 9 mutations in the RPS26
gene in 12 probands (see, e.g., 603701.0001-603701.0005). None of the
mutations were found in at least 520 chromosomes from a control
population of similar, largely European origin. Doherty et al. (2010)
noted that 1 of the mutation-positive patients (see 603701.0002) had
cleft lip and palate, making RPS26 the third gene causing DBA, the other
2 being RPL5 (603634) and RPL11 (604175), in which mutation is
associated with clefting. The authors estimated that RPS26 mutations are
present in about 6.4% of the overall DBA population.
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 a
large deletion encompassing all 4 exons of the RPS26 gene (603701.0006)
in a transfusion-dependent female patient.
*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. 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: 12/2/2013
*FIELD* CD
Marla J. F. O'Neill: 3/18/2010
*FIELD* ED
carol: 12/02/2013
mcolton: 12/2/2013
alopez: 6/18/2010
wwang: 5/12/2010
carol: 3/18/2010