Full text data of RPL35A
RPL35A
[Confidence: low (only semi-automatic identification from reviews)]
60S ribosomal protein L35a (Cell growth-inhibiting gene 33 protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
60S ribosomal protein L35a (Cell growth-inhibiting gene 33 protein)
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
P18077
ID RL35A_HUMAN Reviewed; 110 AA.
AC P18077; Q08ES9; Q9BVN7;
DT 01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 26-JUL-2002, sequence version 2.
DT 22-JAN-2014, entry version 125.
DE RecName: Full=60S ribosomal protein L35a;
DE AltName: Full=Cell growth-inhibiting gene 33 protein;
GN Name=RPL35A; ORFNames=GIG33;
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=2388839; DOI=10.1093/nar/18.15.4600;
RA Herzog H., Hfferer L., Schneider R., Schweiger M.;
RT "cDNA encoding the human homologue of rat ribosomal protein L35a.";
RL Nucleic Acids Res. 18:4600-4600(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W., Kim H.K.;
RT "Identification of a cell growth-inhibiting gene.";
RL Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow, Colon, Ovary, and Placenta;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-21.
RX PubMed=8786106; DOI=10.1006/geno.1996.0093;
RA Colombo P., Read M., Fried M.;
RT "The human L35a ribosomal protein (RPL35A) gene is located at
RT chromosome band 3q29-qter.";
RL Genomics 32:148-150(1996).
RN [6]
RP FUNCTION, AND VARIANTS DBA5 LEU-27 DEL AND ILE-33.
RX PubMed=18535205; DOI=10.1182/blood-2008-02-140012;
RA Farrar J.E., Nater M., Caywood E., McDevitt M.A., Kowalski J.,
RA Takemoto C.M., Talbot C.C. Jr., Meltzer P., Esposito D., Beggs A.H.,
RA Schneider H.E., Grabowska A., Ball S.E., Niewiadomska E., Sieff C.A.,
RA Vlachos A., Atsidaftos E., Ellis S.R., Lipton J.M., Gazda H.T.,
RA Arceci R.J.;
RT "Abnormalities of the large ribosomal subunit protein, Rpl35a, in
RT Diamond-Blackfan anemia.";
RL Blood 112:1582-1592(2008).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-8, 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 [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP 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 the proliferation and viability of
CC hematopoietic cells. Plays a role in 60S ribosomal subunit
CC formation. The protein was found to bind to both initiator and
CC elongator tRNAs and consequently was assigned to the P site or P
CC and A site.
CC -!- INTERACTION:
CC P62633:CNBP; NbExp=1; IntAct=EBI-353383, EBI-1047529;
CC O43586:PSTPIP1; NbExp=1; IntAct=EBI-353383, EBI-1050964;
CC -!- DISEASE: Diamond-Blackfan anemia 5 (DBA5) [MIM:612528]: 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 -!- MISCELLANEOUS: Knockdown of RPL35A in hematopoietic cell lines
CC results in decreased cell proliferation, increased apoptosis,
CC decreased biogenesis of mature 60S ribosomal subunit, and abnormal
CC processing of large ribosomal subunit rRNA.
CC -!- SIMILARITY: Belongs to the ribosomal protein L35Ae family.
CC -!- WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database;
CC URL="http://www.dbagenes.unito.it/home.php?select_db=RPL35A";
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; X52966; CAA37138.1; -; mRNA.
DR EMBL; AY871273; AAX11429.1; -; mRNA.
DR EMBL; CH471252; EAW92249.1; -; Genomic_DNA.
DR EMBL; BC001037; AAH01037.1; -; mRNA.
DR EMBL; BC010949; AAH10949.1; -; mRNA.
DR EMBL; BC017093; AAH17093.1; -; mRNA.
DR EMBL; BC061890; AAH61890.1; -; mRNA.
DR EMBL; X94619; CAA64325.1; -; Genomic_DNA.
DR PIR; S12710; R5HU35.
DR RefSeq; NP_000987.2; NM_000996.2.
DR RefSeq; XP_005269408.1; XM_005269351.1.
DR UniGene; Hs.529631; -.
DR PDB; 3J3B; EM; 5.00 A; f=1-110.
DR PDBsum; 3J3B; -.
DR ProteinModelPortal; P18077; -.
DR SMR; P18077; 2-110.
DR IntAct; P18077; 10.
DR MINT; MINT-1163509; -.
DR STRING; 9606.ENSP00000393393; -.
DR PhosphoSite; P18077; -.
DR DMDM; 22002061; -.
DR SWISS-2DPAGE; P18077; -.
DR PaxDb; P18077; -.
DR PRIDE; P18077; -.
DR DNASU; 6165; -.
DR Ensembl; ENST00000448864; ENSP00000393393; ENSG00000182899.
DR Ensembl; ENST00000464167; ENSP00000419117; ENSG00000182899.
DR GeneID; 6165; -.
DR KEGG; hsa:6165; -.
DR UCSC; uc003fyr.3; human.
DR CTD; 6165; -.
DR GeneCards; GC03P197676; -.
DR H-InvDB; HIX0005661; -.
DR H-InvDB; HIX0163429; -.
DR H-InvDB; HIX0170318; -.
DR H-InvDB; HIX0170319; -.
DR HGNC; HGNC:10345; RPL35A.
DR MIM; 180468; gene.
DR MIM; 612528; phenotype.
DR neXtProt; NX_P18077; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34728; -.
DR eggNOG; COG2451; -.
DR HOGENOM; HOG000195636; -.
DR HOVERGEN; HBG054581; -.
DR InParanoid; P18077; -.
DR KO; K02917; -.
DR OMA; STRLYSK; -.
DR OrthoDB; EOG741Z4R; -.
DR PhylomeDB; P18077; -.
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; RPL35A; -.
DR GenomeRNAi; 6165; -.
DR NextBio; 23949; -.
DR PRO; PR:P18077; -.
DR ArrayExpress; P18077; -.
DR Bgee; P18077; -.
DR CleanEx; HS_RPL35A; -.
DR Genevestigator; P18077; -.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; NAS:UniProtKB.
DR GO; GO:0000049; F:tRNA binding; IEA:UniProtKB-KW.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0042273; P:ribosomal large subunit biogenesis; IMP:UniProtKB.
DR GO; GO:0006364; P:rRNA processing; IMP:UniProtKB.
DR GO; GO:0006614; P:SRP-dependent cotranslational protein targeting to membrane; TAS:Reactome.
DR GO; GO:0006414; P:translational elongation; TAS:Reactome.
DR GO; GO:0006413; P:translational initiation; TAS:Reactome.
DR GO; GO:0006415; P:translational termination; TAS:Reactome.
DR GO; GO:0019083; P:viral transcription; TAS:Reactome.
DR InterPro; IPR001780; Ribosomal_L35A.
DR InterPro; IPR018266; Ribosomal_L35Ae_CS.
DR InterPro; IPR009000; Transl_B-barrel.
DR PANTHER; PTHR10902; PTHR10902; 1.
DR Pfam; PF01247; Ribosomal_L35Ae; 1.
DR ProDom; PD012670; Ribosomal_L35Ae; 1.
DR SUPFAM; SSF50447; SSF50447; 1.
DR PROSITE; PS01105; RIBOSOMAL_L35AE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Complete proteome; Diamond-Blackfan anemia;
KW Disease mutation; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein; RNA-binding; tRNA-binding.
FT CHAIN 1 110 60S ribosomal protein L35a.
FT /FTId=PRO_0000192796.
FT MOD_RES 8 8 N6-acetyllysine.
FT VARIANT 27 27 Missing (in DBA5).
FT /FTId=VAR_055446.
FT VARIANT 33 33 V -> I (in DBA5; may result in aberrant
FT splicing).
FT /FTId=VAR_055447.
FT CONFLICT 85 85 R -> L (in Ref. 1; CAA37138).
SQ SEQUENCE 110 AA; 12538 MW; F32E4A26A25E79E8 CRC64;
MSGRLWSKAI FAGYKRGLRN QREHTALLKI EGVYARDETE FYLGKRCAYV YKAKNNTVTP
GGKPNKTRVI WGKVTRAHGN SGMVRAKFRS NLPAKAIGHR IRVMLYPSRI
//
ID RL35A_HUMAN Reviewed; 110 AA.
AC P18077; Q08ES9; Q9BVN7;
DT 01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 26-JUL-2002, sequence version 2.
DT 22-JAN-2014, entry version 125.
DE RecName: Full=60S ribosomal protein L35a;
DE AltName: Full=Cell growth-inhibiting gene 33 protein;
GN Name=RPL35A; ORFNames=GIG33;
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=2388839; DOI=10.1093/nar/18.15.4600;
RA Herzog H., Hfferer L., Schneider R., Schweiger M.;
RT "cDNA encoding the human homologue of rat ribosomal protein L35a.";
RL Nucleic Acids Res. 18:4600-4600(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W., Kim H.K.;
RT "Identification of a cell growth-inhibiting gene.";
RL Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow, Colon, Ovary, and Placenta;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-21.
RX PubMed=8786106; DOI=10.1006/geno.1996.0093;
RA Colombo P., Read M., Fried M.;
RT "The human L35a ribosomal protein (RPL35A) gene is located at
RT chromosome band 3q29-qter.";
RL Genomics 32:148-150(1996).
RN [6]
RP FUNCTION, AND VARIANTS DBA5 LEU-27 DEL AND ILE-33.
RX PubMed=18535205; DOI=10.1182/blood-2008-02-140012;
RA Farrar J.E., Nater M., Caywood E., McDevitt M.A., Kowalski J.,
RA Takemoto C.M., Talbot C.C. Jr., Meltzer P., Esposito D., Beggs A.H.,
RA Schneider H.E., Grabowska A., Ball S.E., Niewiadomska E., Sieff C.A.,
RA Vlachos A., Atsidaftos E., Ellis S.R., Lipton J.M., Gazda H.T.,
RA Arceci R.J.;
RT "Abnormalities of the large ribosomal subunit protein, Rpl35a, in
RT Diamond-Blackfan anemia.";
RL Blood 112:1582-1592(2008).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-8, 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 [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP 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 the proliferation and viability of
CC hematopoietic cells. Plays a role in 60S ribosomal subunit
CC formation. The protein was found to bind to both initiator and
CC elongator tRNAs and consequently was assigned to the P site or P
CC and A site.
CC -!- INTERACTION:
CC P62633:CNBP; NbExp=1; IntAct=EBI-353383, EBI-1047529;
CC O43586:PSTPIP1; NbExp=1; IntAct=EBI-353383, EBI-1050964;
CC -!- DISEASE: Diamond-Blackfan anemia 5 (DBA5) [MIM:612528]: 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 -!- MISCELLANEOUS: Knockdown of RPL35A in hematopoietic cell lines
CC results in decreased cell proliferation, increased apoptosis,
CC decreased biogenesis of mature 60S ribosomal subunit, and abnormal
CC processing of large ribosomal subunit rRNA.
CC -!- SIMILARITY: Belongs to the ribosomal protein L35Ae family.
CC -!- WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database;
CC URL="http://www.dbagenes.unito.it/home.php?select_db=RPL35A";
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; X52966; CAA37138.1; -; mRNA.
DR EMBL; AY871273; AAX11429.1; -; mRNA.
DR EMBL; CH471252; EAW92249.1; -; Genomic_DNA.
DR EMBL; BC001037; AAH01037.1; -; mRNA.
DR EMBL; BC010949; AAH10949.1; -; mRNA.
DR EMBL; BC017093; AAH17093.1; -; mRNA.
DR EMBL; BC061890; AAH61890.1; -; mRNA.
DR EMBL; X94619; CAA64325.1; -; Genomic_DNA.
DR PIR; S12710; R5HU35.
DR RefSeq; NP_000987.2; NM_000996.2.
DR RefSeq; XP_005269408.1; XM_005269351.1.
DR UniGene; Hs.529631; -.
DR PDB; 3J3B; EM; 5.00 A; f=1-110.
DR PDBsum; 3J3B; -.
DR ProteinModelPortal; P18077; -.
DR SMR; P18077; 2-110.
DR IntAct; P18077; 10.
DR MINT; MINT-1163509; -.
DR STRING; 9606.ENSP00000393393; -.
DR PhosphoSite; P18077; -.
DR DMDM; 22002061; -.
DR SWISS-2DPAGE; P18077; -.
DR PaxDb; P18077; -.
DR PRIDE; P18077; -.
DR DNASU; 6165; -.
DR Ensembl; ENST00000448864; ENSP00000393393; ENSG00000182899.
DR Ensembl; ENST00000464167; ENSP00000419117; ENSG00000182899.
DR GeneID; 6165; -.
DR KEGG; hsa:6165; -.
DR UCSC; uc003fyr.3; human.
DR CTD; 6165; -.
DR GeneCards; GC03P197676; -.
DR H-InvDB; HIX0005661; -.
DR H-InvDB; HIX0163429; -.
DR H-InvDB; HIX0170318; -.
DR H-InvDB; HIX0170319; -.
DR HGNC; HGNC:10345; RPL35A.
DR MIM; 180468; gene.
DR MIM; 612528; phenotype.
DR neXtProt; NX_P18077; -.
DR Orphanet; 124; Blackfan-Diamond anemia.
DR PharmGKB; PA34728; -.
DR eggNOG; COG2451; -.
DR HOGENOM; HOG000195636; -.
DR HOVERGEN; HBG054581; -.
DR InParanoid; P18077; -.
DR KO; K02917; -.
DR OMA; STRLYSK; -.
DR OrthoDB; EOG741Z4R; -.
DR PhylomeDB; P18077; -.
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; RPL35A; -.
DR GenomeRNAi; 6165; -.
DR NextBio; 23949; -.
DR PRO; PR:P18077; -.
DR ArrayExpress; P18077; -.
DR Bgee; P18077; -.
DR CleanEx; HS_RPL35A; -.
DR Genevestigator; P18077; -.
DR GO; GO:0022625; C:cytosolic large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0003735; F:structural constituent of ribosome; NAS:UniProtKB.
DR GO; GO:0000049; F:tRNA binding; IEA:UniProtKB-KW.
DR GO; GO:0000184; P:nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; TAS:Reactome.
DR GO; GO:0042273; P:ribosomal large subunit biogenesis; IMP:UniProtKB.
DR GO; GO:0006364; P:rRNA processing; IMP:UniProtKB.
DR GO; GO:0006614; P:SRP-dependent cotranslational protein targeting to membrane; TAS:Reactome.
DR GO; GO:0006414; P:translational elongation; TAS:Reactome.
DR GO; GO:0006413; P:translational initiation; TAS:Reactome.
DR GO; GO:0006415; P:translational termination; TAS:Reactome.
DR GO; GO:0019083; P:viral transcription; TAS:Reactome.
DR InterPro; IPR001780; Ribosomal_L35A.
DR InterPro; IPR018266; Ribosomal_L35Ae_CS.
DR InterPro; IPR009000; Transl_B-barrel.
DR PANTHER; PTHR10902; PTHR10902; 1.
DR Pfam; PF01247; Ribosomal_L35Ae; 1.
DR ProDom; PD012670; Ribosomal_L35Ae; 1.
DR SUPFAM; SSF50447; SSF50447; 1.
DR PROSITE; PS01105; RIBOSOMAL_L35AE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Complete proteome; Diamond-Blackfan anemia;
KW Disease mutation; Reference proteome; Ribonucleoprotein;
KW Ribosomal protein; RNA-binding; tRNA-binding.
FT CHAIN 1 110 60S ribosomal protein L35a.
FT /FTId=PRO_0000192796.
FT MOD_RES 8 8 N6-acetyllysine.
FT VARIANT 27 27 Missing (in DBA5).
FT /FTId=VAR_055446.
FT VARIANT 33 33 V -> I (in DBA5; may result in aberrant
FT splicing).
FT /FTId=VAR_055447.
FT CONFLICT 85 85 R -> L (in Ref. 1; CAA37138).
SQ SEQUENCE 110 AA; 12538 MW; F32E4A26A25E79E8 CRC64;
MSGRLWSKAI FAGYKRGLRN QREHTALLKI EGVYARDETE FYLGKRCAYV YKAKNNTVTP
GGKPNKTRVI WGKVTRAHGN SGMVRAKFRS NLPAKAIGHR IRVMLYPSRI
//
MIM
180468
*RECORD*
*FIELD* NO
180468
*FIELD* TI
*180468 RIBOSOMAL PROTEIN L35A; RPL35A
*FIELD* TX
DESCRIPTION
In eukaryotes, the ribosome is composed of 4 different ribosomal RNA
read morespecies and 79 ribosomal proteins, including RPL35A (Boria et al.,
2010).
CLONING
Boria et al. (2010) stated that the RPL35A gene encodes a 110-amino acid
protein with molecular mass of 12.4 kD.
GENE STRUCTURE
Boria et al. (2010) stated that the RPL35A gene contains 6 exons
spanning 5.6 kb. The first exon is noncoding.
MAPPING
By fluorescence in situ hybridization, Colombo et al. (1996) mapped the
RPL35A to chromosome 3q29-qter. They confirmed the localization by PCR
analysis of a hybrid cell line containing only chromosome 3.
GENE FUNCTION
Farrar et al. (2008) tested small hairpin RNAs (shRNA) targeting RPL35A
mRNA in UT-7/Epo and TF-1 cell lines and demonstrated that RPL35A is
essential for maturation of 28S and 5.8S rRNAs, 60S subunit biogenesis,
normal proliferation, and cell survival.
MOLECULAR GENETICS
Using a candidate gene strategy combining high-resolution genomic
mapping and gene expression microarray, Farrar et al. (2008) analyzed
the chromosome 3q29-qter and 3q29 deletions, respectively, from a boy
and an unrelated girl with Diamond-Blackfan anemia (DBA5; 612528), and
identified RPL35A as a potential DBA gene. Screening genomic DNA from
148 additional probands with DBA, the authors identified 3 mutations
(180468.0001-180468.0003), yielding an estimated 3.3% rate of RPL35A
abnormalities in DBA probands. Analysis of pre-rRNA processing in
primary DBA lymphoblastoid cell lines demonstrated alterations of large
ribosomal subunit rRNA in both RPL35A-mutated and RPL35A-wildtype DBA
patients, suggesting that additional large ribosomal subunit gene
defects are likely present in some cases of DBA.
HISTORY
Using a PCR product for the analysis of rodent/human somatic cell
hybrids, Feo et al. (1992) incorrectly mapped the RPL35A gene to
chromosome 18.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 5
RPL35A, VAL33ILE
In a male patient who presented with Diamond-Blackfan anemia-5 (612528)
at 4 months of age and who also had hypospadias and short stature,
Farrar et al. (2008) identified heterozygosity for a 97G-A transition in
exon 3 of the RPL35A gene, resulting in a val33-to-ile substitution
(V33I) and selection of a cryptic splice donor site within exon 3 that
causes a nonsense mutation after codon 31 and a 70-bp truncation of
3-prime exon 3 in addition to the intron. The mutation was also found in
the proband's father and sister, who had untreated macrocytic anemia
suggestive of subclinical DBA, but was not found in unaffected family
members or 180 controls.
.0002
DIAMOND-BLACKFAN ANEMIA 5
RPL35A, 3-BP DEL, LEU27DEL
In a male patient who presented with Diamond-Blackfan anemia-5 (612528)
at 14 months of age and had no associated anomalies, Farrar et al.
(2008) identified a 3-bp deletion in exon 3 of the RPL35A gene,
resulting in the deletion of the leucine at codon 27 (leu27del). The
mutation was not found in 2 unaffected sibs or in 180 controls.
.0003
DIAMOND-BLACKFAN ANEMIA 5
RPL35A, ARG102TER
In a male patient who presented with Diamond-Blackfan anemia-5 (612528)
at 2 months of age and who also had bilateral duplicated ureters and 11
ribs, Farrar et al. (2008) identified a 304C-T transition in exon 4 of
the RPL35A gene, resulting in an arg102-to-ter (R102X) substitution and
truncation of 9 C-terminal amino acids. The mutation was not found in
180 controls.
*FIELD* RF
1. Boria, I.; Garelli, E.; Gazda, H. T.; Aspesi, A.; Quarello, P.;
Pavesi, E.; Ferrante, D.; Meerpohl, J. J.; Kartal, M.; Da Costa, L.;
Proust, A.; Leblanc, T.; and 17 others: The ribosomal basis of
Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31:
1269-1279, 2010.
2. Colombo, P.; Read, M.; Fried, M.: The human L35a ribosomal protein
(RPL35A) gene is located at chromosome band 3q29-qter. Genomics 32:
148-150, 1996.
3. Farrar, J. E.; Nater, M.; Caywood, E.; McDevitt, M. A.; Kowalski,
J.; Takemoto, C. M.; Talbot, C. C., Jr.; Meltzer, P.; Esposito, D.;
Beggs, A. H.; Schneider, H. E.; Grabowska, A.; and 9 others: Abnormalities
of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan
anemia. Blood 112: 1582-1592, 2008.
4. 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.
*FIELD* CN
Cassandra L. Kniffin - updated: 03/24/2011
Marla J. F. O'Neill - updated: 1/13/2009
Alan F. Scott - updated: 4/4/1996
*FIELD* CD
Victor A. McKusick: 6/6/1992
*FIELD* ED
wwang: 03/24/2011
carol: 1/13/2009
terry: 1/13/2009
joanna: 4/4/1996
mark: 4/4/1996
terry: 4/4/1996
mark: 4/4/1996
carol: 6/6/1992
*RECORD*
*FIELD* NO
180468
*FIELD* TI
*180468 RIBOSOMAL PROTEIN L35A; RPL35A
*FIELD* TX
DESCRIPTION
In eukaryotes, the ribosome is composed of 4 different ribosomal RNA
read morespecies and 79 ribosomal proteins, including RPL35A (Boria et al.,
2010).
CLONING
Boria et al. (2010) stated that the RPL35A gene encodes a 110-amino acid
protein with molecular mass of 12.4 kD.
GENE STRUCTURE
Boria et al. (2010) stated that the RPL35A gene contains 6 exons
spanning 5.6 kb. The first exon is noncoding.
MAPPING
By fluorescence in situ hybridization, Colombo et al. (1996) mapped the
RPL35A to chromosome 3q29-qter. They confirmed the localization by PCR
analysis of a hybrid cell line containing only chromosome 3.
GENE FUNCTION
Farrar et al. (2008) tested small hairpin RNAs (shRNA) targeting RPL35A
mRNA in UT-7/Epo and TF-1 cell lines and demonstrated that RPL35A is
essential for maturation of 28S and 5.8S rRNAs, 60S subunit biogenesis,
normal proliferation, and cell survival.
MOLECULAR GENETICS
Using a candidate gene strategy combining high-resolution genomic
mapping and gene expression microarray, Farrar et al. (2008) analyzed
the chromosome 3q29-qter and 3q29 deletions, respectively, from a boy
and an unrelated girl with Diamond-Blackfan anemia (DBA5; 612528), and
identified RPL35A as a potential DBA gene. Screening genomic DNA from
148 additional probands with DBA, the authors identified 3 mutations
(180468.0001-180468.0003), yielding an estimated 3.3% rate of RPL35A
abnormalities in DBA probands. Analysis of pre-rRNA processing in
primary DBA lymphoblastoid cell lines demonstrated alterations of large
ribosomal subunit rRNA in both RPL35A-mutated and RPL35A-wildtype DBA
patients, suggesting that additional large ribosomal subunit gene
defects are likely present in some cases of DBA.
HISTORY
Using a PCR product for the analysis of rodent/human somatic cell
hybrids, Feo et al. (1992) incorrectly mapped the RPL35A gene to
chromosome 18.
*FIELD* AV
.0001
DIAMOND-BLACKFAN ANEMIA 5
RPL35A, VAL33ILE
In a male patient who presented with Diamond-Blackfan anemia-5 (612528)
at 4 months of age and who also had hypospadias and short stature,
Farrar et al. (2008) identified heterozygosity for a 97G-A transition in
exon 3 of the RPL35A gene, resulting in a val33-to-ile substitution
(V33I) and selection of a cryptic splice donor site within exon 3 that
causes a nonsense mutation after codon 31 and a 70-bp truncation of
3-prime exon 3 in addition to the intron. The mutation was also found in
the proband's father and sister, who had untreated macrocytic anemia
suggestive of subclinical DBA, but was not found in unaffected family
members or 180 controls.
.0002
DIAMOND-BLACKFAN ANEMIA 5
RPL35A, 3-BP DEL, LEU27DEL
In a male patient who presented with Diamond-Blackfan anemia-5 (612528)
at 14 months of age and had no associated anomalies, Farrar et al.
(2008) identified a 3-bp deletion in exon 3 of the RPL35A gene,
resulting in the deletion of the leucine at codon 27 (leu27del). The
mutation was not found in 2 unaffected sibs or in 180 controls.
.0003
DIAMOND-BLACKFAN ANEMIA 5
RPL35A, ARG102TER
In a male patient who presented with Diamond-Blackfan anemia-5 (612528)
at 2 months of age and who also had bilateral duplicated ureters and 11
ribs, Farrar et al. (2008) identified a 304C-T transition in exon 4 of
the RPL35A gene, resulting in an arg102-to-ter (R102X) substitution and
truncation of 9 C-terminal amino acids. The mutation was not found in
180 controls.
*FIELD* RF
1. Boria, I.; Garelli, E.; Gazda, H. T.; Aspesi, A.; Quarello, P.;
Pavesi, E.; Ferrante, D.; Meerpohl, J. J.; Kartal, M.; Da Costa, L.;
Proust, A.; Leblanc, T.; and 17 others: The ribosomal basis of
Diamond-Blackfan anemia: mutation and database update. Hum. Mutat. 31:
1269-1279, 2010.
2. Colombo, P.; Read, M.; Fried, M.: The human L35a ribosomal protein
(RPL35A) gene is located at chromosome band 3q29-qter. Genomics 32:
148-150, 1996.
3. Farrar, J. E.; Nater, M.; Caywood, E.; McDevitt, M. A.; Kowalski,
J.; Takemoto, C. M.; Talbot, C. C., Jr.; Meltzer, P.; Esposito, D.;
Beggs, A. H.; Schneider, H. E.; Grabowska, A.; and 9 others: Abnormalities
of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan
anemia. Blood 112: 1582-1592, 2008.
4. 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.
*FIELD* CN
Cassandra L. Kniffin - updated: 03/24/2011
Marla J. F. O'Neill - updated: 1/13/2009
Alan F. Scott - updated: 4/4/1996
*FIELD* CD
Victor A. McKusick: 6/6/1992
*FIELD* ED
wwang: 03/24/2011
carol: 1/13/2009
terry: 1/13/2009
joanna: 4/4/1996
mark: 4/4/1996
terry: 4/4/1996
mark: 4/4/1996
carol: 6/6/1992
MIM
612528
*RECORD*
*FIELD* NO
612528
*FIELD* TI
#612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5
*FIELD* TX
A number sign (#) is used with this entry because Diamond-Blackfan
read moreanemia-5 is caused by mutation in the gene encoding ribosomal protein
L35A (RPL35A; 180468).
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Using a candidate gene strategy combining high-resolution genomic
mapping and gene expression microarray, Farrar et al. (2008) analyzed
the chromosome 3q29-qter and 3q29 deletions, respectively, from a
9-year-old boy and an unrelated 7-week-old girl with Diamond-Blackfan
anemia, and identified RPL35A (180468) as a potential DBA gene. The
authors then screened genomic DNA from 148 additional probands with DBA,
including 11 probands with known mutations in RPS19 (603474) and 3 with
known mutations in RPS24 (602412); 3 mutations were identified in the
RPL35A gene in 1 familial (180468.0001) and 2 sporadic cases
(180468.0002 and 180468.0003, respectively), for an estimated 3.3% rate
of RPL35A abnormalities in DBA probands. In the familial case, the
mutation was also found in the proband's father and sister, who had
untreated macrocytic anemia suggestive of subclinical DBA. None of the
mutations were found in 180 normal controls.
*FIELD* RF
1. Farrar, J. E.; Nater, M.; Caywood, E.; McDevitt, M. A.; Kowalski,
J.; Takemoto, C. M.; Talbot, C. C., Jr.; Meltzer, P.; Esposito, D.;
Beggs, A. H.; Schneider, H. E.; Grabowska, A.; and 9 others: Abnormalities
of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan
anemia. Blood 112: 1582-1592, 2008.
*FIELD* CD
Marla J. F. O'Neill: 1/13/2009
*FIELD* ED
carol: 01/13/2009
*RECORD*
*FIELD* NO
612528
*FIELD* TI
#612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5
*FIELD* TX
A number sign (#) is used with this entry because Diamond-Blackfan
read moreanemia-5 is caused by mutation in the gene encoding ribosomal protein
L35A (RPL35A; 180468).
For a general phenotypic description and a discussion of genetic
heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).
MOLECULAR GENETICS
Using a candidate gene strategy combining high-resolution genomic
mapping and gene expression microarray, Farrar et al. (2008) analyzed
the chromosome 3q29-qter and 3q29 deletions, respectively, from a
9-year-old boy and an unrelated 7-week-old girl with Diamond-Blackfan
anemia, and identified RPL35A (180468) as a potential DBA gene. The
authors then screened genomic DNA from 148 additional probands with DBA,
including 11 probands with known mutations in RPS19 (603474) and 3 with
known mutations in RPS24 (602412); 3 mutations were identified in the
RPL35A gene in 1 familial (180468.0001) and 2 sporadic cases
(180468.0002 and 180468.0003, respectively), for an estimated 3.3% rate
of RPL35A abnormalities in DBA probands. In the familial case, the
mutation was also found in the proband's father and sister, who had
untreated macrocytic anemia suggestive of subclinical DBA. None of the
mutations were found in 180 normal controls.
*FIELD* RF
1. Farrar, J. E.; Nater, M.; Caywood, E.; McDevitt, M. A.; Kowalski,
J.; Takemoto, C. M.; Talbot, C. C., Jr.; Meltzer, P.; Esposito, D.;
Beggs, A. H.; Schneider, H. E.; Grabowska, A.; and 9 others: Abnormalities
of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan
anemia. Blood 112: 1582-1592, 2008.
*FIELD* CD
Marla J. F. O'Neill: 1/13/2009
*FIELD* ED
carol: 01/13/2009