RPL13
entrez
6137
canonical
uniprot
P26373
canonical
ensembl
ENSG00000167526
resolver
ensp
ENSP00000307889
resolver
ensp
ENSP00000376811
resolver
ensp
ENSP00000438959
resolver
genesymbol
RPL13
resolver
genesymbol_syn
BBC1
resolver
hgnc
HGNC:10303
resolver
uniprot
A8K4C8
resolver
uniprot
B4DLX3
resolver
uniprot
F5H1S2
resolver
uniprot
Q3KQT8
resolver
uniprot
Q567Q8
resolver
uniprot
Q9BPX0
resolver
uniprot_entry
A8K4C8_HUMAN
resolver
uniprot_entry
RL13_HUMAN
resolver
uniprot_sec
B4DLX3
resolver
uniprot_sec
F5H1S2
resolver
uniprot_sec
Q3KQT8
resolver
uniprot_sec
Q567Q8
resolver
uniprot_sec
Q9BPX0
resolver
amino_acid_sequence
MAPSRNGMVLKPHFHKDWQRRVATWFNQPARKIRRRKARQAKARRIAPRPASGPIRPIVRCPTVRYHTKVRAGRGFSLEELRVAGIHKKVARTIGISVDPRRRNKSTESLQANVQRLKEYRSKLILFPRKPSAPKKGDSSAEELKLATQLTGPVMPVRNVYKKEKARVITEEEKNFKAFASLRMARANARLFGIRAKRAKEAAEQDVEKKK
uniprot
proteins
disease_involvement
DISEASE: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (SEMDIST) [MIM:618728]: An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. {ECO:0000269|PubMed:31630789}. 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 (PubMed:23636399, PubMed:31630789, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (Probable). 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 (Probable). 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 (Probable). As part of the LSU, it is probably required for its formation and the maturation of rRNAs (PubMed:31630789). Plays a role in bone development (PubMed:31630789). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:31630789, ECO:0000269|PubMed:32669547}.
uniprot
proteins
mass_dalton
24261
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eL13 family
uniprot
proteins
pubmed
1301162
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31630789
uniprot
proteins
pubmed
32669547
uniprot
proteins
sequence_length
211
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399, ECO:0000305|PubMed:31630789}.
uniprot
proteins