RPL5

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]

Ribosomal Protein L5

Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868, PubMed:23636399).
It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868).

Biological Process cytoplasmic translation1 PublicationIC:FlyBase
Biological Process negative regulation of protein neddylationManual Assertion Based On ExperimentIDA:CAFA
Biological Process negative regulation of ubiquitin protein ligase activityManual Assertion Based On ExperimentIDA:CAFA
Biological Process negative regulation of ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIDA:CAFA
Biological Process positive regulation of gene expressionManual Assertion Based On ExperimentIDA:CAFA
Biological Process positive regulation of translationManual Assertion Based On ExperimentIDA:CAFA
Biological Process protein stabilizationManual Assertion Based On ExperimentIMP:CAFA
Biological Process regulation of signal transduction by p53 class mediatorManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ribosomal large subunit assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ribosomal large subunit biogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process rRNA processingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process translationManual Assertion Based On ExperimentTAS:ProtInc

Cytoplasm
Nucleus, nucleolus
Although RP5 is functional within the cytoplasm, the assembly of ribosomal subunits occurs in the nucleus. RPL5 nuclear import is mediated by IPO5/RanBP5, IPO7/RanBP7, KPNB1/importin-beta or TPNO1/Trn.

Diamond-Blackfan anemia 6 (DBA6):
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.