Description: Homo sapiens ribosomal protein L5 (RPL5), mRNA. RefSeq Summary (NM_000969): Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]. Transcript (Including UTRs) Position: hg19 chr1:93,297,594-93,307,481 Size: 9,888 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr1:93,297,672-93,307,422 Size: 9,751 Coding Exon Count: 8
ID:RL5_HUMAN DESCRIPTION: RecName: Full=60S ribosomal protein L5; FUNCTION: Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA. INTERACTION: P43146:DCC; NbExp=7; IntAct=EBI-358018, EBI-1222919; Q63155:Dcc (xeno); NbExp=4; IntAct=EBI-358018, EBI-1798965; SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. DISEASE: Defects in RPL5 are the cause of Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]. DBA6 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. SIMILARITY: Belongs to the ribosomal protein L18P family. WEB RESOURCE: Name=Diamond-Blackfan Anemia mutation database; URL="http://www.dbagenes.unito.it/home.php?select_db=RPL5";
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): RPL5 CDC HuGE Published Literature: RPL5 Positive Disease Associations: multiple sclerosis
, Schizophrenia Related Studies:
multiple sclerosis Bahlo ,et al. 2009, Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20, Nature genetics 2009 41- 7 : 824-8.
[PubMed 19525955]
multiple sclerosis Hafler ,et al. 2007, Risk alleles for multiple sclerosis identified by a genomewide study, The New England journal of medicine 2007 357- 9 : 851-62.
[PubMed 17660530]
Multiple Sclerosis David A Hafler et al. The New England journal of medicine 2007, Risk alleles for multiple sclerosis identified by a genomewide study., The New England journal of medicine.
[PubMed 17660530]
Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for multiple sclerosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P46777
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000027 ribosomal large subunit assembly GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0006364 rRNA processing GO:0006412 translation GO:0006413 translational initiation GO:0006614 SRP-dependent cotranslational protein targeting to membrane GO:0010628 positive regulation of gene expression GO:0042273 ribosomal large subunit biogenesis GO:0045727 positive regulation of translation GO:0050821 protein stabilization GO:1901796 regulation of signal transduction by p53 class mediator GO:1904667 negative regulation of ubiquitin protein ligase activity GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000435 negative regulation of protein neddylation
KJ901710 - Synthetic construct Homo sapiens clone ccsbBroadEn_11104 RPL5 gene, encodes complete protein. AK092963 - Homo sapiens cDNA FLJ35644 fis, clone SPLEN2012525, highly similar to 60S RIBOSOMAL PROTEIN L5. AK314720 - Homo sapiens cDNA, FLJ95579, Homo sapiens ribosomal protein L5 (RPL5), mRNA. AK095815 - Homo sapiens cDNA FLJ38496 fis, clone FELIV1000137, highly similar to 60S RIBOSOMAL PROTEIN L5. AB055762 - Homo sapiens mRNA for ribosomal protein L5, partial cds. BC109370 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone MGC:117339 IMAGE:5736022), complete cds. AF113210 - Homo sapiens MSTP030 mRNA, complete cds. BC132970 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone MGC:164601 IMAGE:40146992), complete cds. BC132972 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone MGC:164603 IMAGE:40146994), complete cds. BC001882 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone IMAGE:3544216), complete cds. AK222604 - Homo sapiens mRNA for ribosomal protein L5 variant, clone: CAS05133. U14966 - Human ribosomal protein L5 mRNA, complete cds. AB208980 - Homo sapiens mRNA for ribosomal protein L5 variant protein. AB464162 - Synthetic construct DNA, clone: pF1KB3448, Homo sapiens RPL5 gene for ribosomal protein L5, without stop codon, in Flexi system. AX419933 - Sequence 270 from Patent WO0198537. JD027156 - Sequence 8180 from Patent EP1572962. JD035974 - Sequence 16998 from Patent EP1572962. BC012937 - Homo sapiens ribosomal protein L5, mRNA (cDNA clone IMAGE:3853527). JD022601 - Sequence 3625 from Patent EP1572962. JD022602 - Sequence 3626 from Patent EP1572962. JD023600 - Sequence 4624 from Patent EP1572962. JD026813 - Sequence 7837 from Patent EP1572962. JD035555 - Sequence 16579 from Patent EP1572962. CS330179 - Sequence 30 from Patent WO2006063356. CS330190 - Sequence 46 from Patent WO2006063356. U66590 - Human ribosomal protein L5 pseudogene mRNA, partial cds. JD035664 - Sequence 16688 from Patent EP1572962. U76609 - Human ribosomal L5 protein mRNA, partial cds. JD025417 - Sequence 6441 from Patent EP1572962. JD028290 - Sequence 9314 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03010 - Ribosome
Reactome (by CSHL, EBI, and GO)
Protein P46777 (Reactome details) participates in the following event(s):
R-HSA-72672 The 60S subunit joins the translation initiation complex R-HSA-156826 Dissociation of L13a from the 60s ribosomal subunit R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome R-HSA-72671 eIF5B:GTP is hydrolyzed and released R-HSA-156907 Aminoacyl-tRNA binds to the ribosome at the A-site R-HSA-2408529 Sec-tRNA(Sec):EEFSEC:GTP binds to 80S Ribosome R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex R-HSA-156915 Translocation of ribosome by 3 bases in the 3' direction R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex R-HSA-156912 Peptide transfer from P-site tRNA to the A-site tRNA R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex R-HSA-1799332 Nascent polypeptide:mRNA:ribosome complex binds signal recognition particle (SRP) R-HSA-156923 Hydrolysis of eEF1A:GTP R-HSA-5333615 80S:Met-tRNAi:mRNA:SECISBP2:Sec-tRNA(Sec):EEFSEC:GTP is hydrolysed to 80S:Met-tRNAi:mRNA:SECISBP2:Sec and EEFSEC:GDP by EEFSEC R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex) R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein R-HSA-1799330 The SRP receptor binds the SRP:nascent peptide:ribosome complex R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit R-HSA-156827 L13a-mediated translation R-HSA-72689 Formation of a pool of free 40S subunits R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane R-HSA-9010553 Regulation of expression of SLITs and ROBOs R-HSA-72737 Cap-dependent Translation Initiation R-HSA-72613 Eukaryotic Translation Initiation R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-156902 Peptide chain elongation R-HSA-2408557 Selenocysteine synthesis R-HSA-72764 Eukaryotic Translation Termination R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) R-HSA-72766 Translation R-HSA-376176 Signaling by ROBO receptors R-HSA-192823 Viral mRNA Translation R-HSA-72312 rRNA processing R-HSA-156842 Eukaryotic Translation Elongation R-HSA-2408522 Selenoamino acid metabolism R-HSA-927802 Nonsense-Mediated Decay (NMD) R-HSA-392499 Metabolism of proteins R-HSA-422475 Axon guidance R-HSA-168273 Influenza Viral RNA Transcription and Replication R-HSA-8953854 Metabolism of RNA R-HSA-71291 Metabolism of nitrogenous molecules R-HSA-1266738 Developmental Biology R-HSA-168255 Influenza Life Cycle R-HSA-1430728 Metabolism R-HSA-168254 Influenza Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease
US Server
