RPS24
entrez
6229
canonical
uniprot
P62847
canonical
ensembl
ENSG00000138326
resolver
ensp
ENSP00000354074
resolver
ensp
ENSP00000361435
resolver
ensp
ENSP00000414321
resolver
ensp
ENSP00000478869
resolver
ensp
ENSP00000494231
resolver
ensp
ENSP00000496738
resolver
enst
ENST00000360830
resolver
enst
ENST00000645440
resolver
genesymbol
RPS24
resolver
hgnc
HGNC:10411
resolver
uniprot
A0A2R8Y849
resolver
uniprot
E7EPK6
resolver
uniprot
P16632
resolver
uniprot
Q5T0P7
resolver
uniprot
Q5T0P8
resolver
uniprot
Q7Z3D1
resolver
uniprot_entry
A0A2R8Y849_HUMAN
resolver
uniprot_entry
RS24_HUMAN
resolver
uniprot_sec
E7EPK6
resolver
uniprot_sec
P16632
resolver
uniprot_sec
Q5T0P7
resolver
uniprot_sec
Q5T0P8
resolver
uniprot_sec
Q7Z3D1
resolver
amino_acid_sequence
MNDTVTIRTRKFMTNRLLQRKQMVIDVLHPGKATVPKTEIREKLAKMYKTTPDVIFVFGFRTHFGGGKTTGFGMIYDSLDYAKKNEPKHRLARHGLYEKKKTSRKQRKERKNRMKKVRGTAKANVGAGKKPKE
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 3 (DBA3) [MIM:610629]: 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 developing leukemia. 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:17186470}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for processing of pre-rRNA and maturation of 40S ribosomal subunits (PubMed:18230666). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). {ECO:0000269|PubMed:18230666, ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
15423
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eS24 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17186470
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18230666
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2210388
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
34516797
uniprot
proteins
pubmed
8647458
uniprot
proteins
pubmed
8706699
uniprot
proteins
sequence_length
133
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}. Nucleus, nucleolus {ECO:0000269|PubMed:34516797}.
uniprot
proteins