RPL5
entrez
6125
canonical
uniprot
P46777
canonical
ensembl
ENSG00000122406
resolver
ensp
ENSP00000359345
resolver
enst
ENST00000370321
resolver
genesymbol
RPL5
resolver
hgnc
HGNC:10360
resolver
uniprot
A2RUM7
resolver
uniprot
Q32LZ3
resolver
uniprot
Q53HH6
resolver
uniprot
Q9H3F4
resolver
uniprot_entry
A2RUM7_HUMAN
resolver
uniprot_entry
RL5_HUMAN
resolver
uniprot_sec
Q32LZ3
resolver
uniprot_sec
Q53HH6
resolver
uniprot_sec
Q9H3F4
resolver
amino_acid_sequence
MGFVKVVKNKAYFKRYQVKFRRRREGKTDYYARKRLVIQDKNKYNTPKYRMIVRVTNRDIICQIAYARIEGDMIVCAAYAHELPKYGVKVGLTNYAAAYCTGLLLARRLLNRFGMDKIYEGQVEVTGDEYNVESIDGQPGAFTCYLDAGLARTTTGNKVFGALKGAVDGGLSIPHSTKRFPGYDSESKEFNAEVHRKHIMGQNVADYMRYLMEEDEDAYKKQFSQYIKNSVTPDMMEEMYKKAHAAIRENPVYEKKPKKEVKKKRWNRPKMSLAQKKDRVAQKKASFLRAQERAAES
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]: An autosomal dominant 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. {ECO:0000269|PubMed:19061985, ECO:0000269|PubMed:19191325}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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:23636399, PubMed:24120868). 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). {ECO:0000269|PubMed:12962325, ECO:0000269|PubMed:19061985, ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:24120868}.
uniprot
proteins
mass_dalton
34363
uniprot
proteins
protein_family
Universal ribosomal protein uL18 family
uniprot
proteins
pubmed
12962325
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15469983
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19061985
uniprot
proteins
pubmed
19191325
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20926688
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24120868
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32669547
uniprot
proteins
pubmed
37291423
uniprot
proteins
pubmed
7772601
uniprot
proteins
pubmed
7937132
uniprot
proteins
pubmed
8806611
uniprot
proteins
pubmed
9687515
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15469983, ECO:0000269|Ref.7}. Nucleus, nucleolus {ECO:0000269|PubMed:15469983, ECO:0000269|Ref.7}. Note=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. {ECO:0000269|PubMed:9687515}.
uniprot
proteins