RPL18
entrez
6141
canonical
uniprot
Q07020
canonical
ensembl
ENSG00000063177
resolver
ensp
ENSP00000447001
resolver
ensp
ENSP00000449204
resolver
genesymbol
RPL18
resolver
hgnc
HGNC:10310
resolver
uniprot
F8VWC5
resolver
uniprot
Q8WTZ6
resolver
uniprot_entry
RL18_HUMAN
resolver
uniprot_sec
F8VWC5
resolver
uniprot_sec
Q8WTZ6
resolver
amino_acid_sequence
MGVDIRHNKDRKVRRKEPKSQDIYLRLLVKLYRFLARRTNSTFNQVVLKRLFMSRTNRPPLSLSRMIRKMKLPGRENKTAVVVGTITDDVRVQEVPKLKVCALRVTSRARSRILRAGGKILTFDQLALDSPKGCGTVLLSGPRKGREVYRHFGKAPGTPHSHTKPYVRSKGRKFERARGRRASRGYKN
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 18 (DBA18) [MIM:618310]: 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. DBA18 inheritance is autosomal dominant. {ECO:0000269|PubMed:28280134}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000269|PubMed:32669547, ECO:0000305|PubMed:12962325}.
uniprot
proteins
mass_dalton
21634
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eL18 family
uniprot
proteins
pubmed
11875025
uniprot
proteins
pubmed
12962325
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25901680
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25957688
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28280134
uniprot
proteins
pubmed
32669547
uniprot
proteins
pubmed
8218404
uniprot
proteins
sequence_length
188
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:Q95342}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q95342, ECO:0000269|PubMed:25957688}.
uniprot
proteins