RPL5 Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA. Defects in RPL5 are the cause of Diamond-Blackfan anemia type 6 (DBA6). 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. Belongs to the ribosomal protein L18P family. Note: This description may include information from UniProtKB.
Protein type: Nucleolus; Ribosomal; Translation
Chromosomal Location of Human Ortholog: 1p22.1
Cellular Component:  cytoplasm; cytosol; endoplasmic reticulum; nucleolus; nucleoplasm; nucleus; protein-containing complex; ribonucleoprotein complex
Molecular Function:  5S rRNA binding; mRNA 3'-UTR binding; mRNA 5'-UTR binding; protein binding; structural constituent of ribosome; ubiquitin ligase inhibitor activity; ubiquitin protein ligase binding
Biological Process:  negative regulation of protein neddylation; negative regulation of ubiquitin protein ligase activity; negative regulation of ubiquitin-dependent protein catabolic process; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of gene expression; positive regulation of translation; protein stabilization; regulation of signal transduction by p53 class mediator; ribosomal large subunit assembly; ribosomal large subunit biogenesis; rRNA processing; SRP-dependent cotranslational protein targeting to membrane; translation; translational initiation; viral transcription
Disease: Diamond-blackfan Anemia 6
Reference #:  P46777 (UniProtKB)
Alt. Names/Synonyms: 60S ribosomal protein L5; DBA6; MGC117339; MSTP030; ribosomal protein L5; RL5; RPL5
Gene Symbols: RPL5
Molecular weight: 34,363 Da
Basal Isoelectric point: 9.73  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene