RPS19
entrez
6223
canonical
uniprot
P39019
canonical
ensembl
ENSG00000105372
resolver
ensp
ENSP00000469228
resolver
ensp
ENSP00000470004
resolver
ensp
ENSP00000470972
resolver
ensp
ENSP00000528755
resolver
ensp
ENSP00000528756
resolver
ensp
ENSP00000603974
resolver
ensp
ENSP00000603975
resolver
ensp
ENSP00000755672
resolver
enst
ENST00000593863
resolver
enst
ENST00000598742
resolver
enst
ENST00000600467
resolver
enst
ENST00000858696
resolver
enst
ENST00000858697
resolver
enst
ENST00000933915
resolver
enst
ENST00000933916
resolver
genesymbol
RPS19
resolver
hgnc
HGNC:10402
resolver
uniprot
B0ZBD0
resolver
uniprot_entry
B0ZBD0_HUMAN
resolver
uniprot_entry
RS19_HUMAN
resolver
amino_acid_sequence
MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYGGRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]: 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:10590074, ECO:0000269|PubMed:11112378, ECO:0000269|PubMed:12586610, ECO:0000269|PubMed:12750732, ECO:0000269|PubMed:15384984, ECO:0000269|PubMed:17517689, ECO:0000269|PubMed:18412286, ECO:0000269|PubMed:9988267, ECO:0000269|Ref.27}. 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 pre-rRNA processing and maturation of 40S ribosomal subunits (PubMed:16990592). 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:16990592, ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
16060
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eS19 family
uniprot
proteins
pubmed
10590074
uniprot
proteins
pubmed
11112378
uniprot
proteins
pubmed
12586610
uniprot
proteins
pubmed
12750732
uniprot
proteins
pubmed
1339304
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15075082
uniprot
proteins
pubmed
15384984
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16990592
uniprot
proteins
pubmed
17517689
uniprot
proteins
pubmed
18412286
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20844026
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25062117
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34516797
uniprot
proteins
pubmed
8706699
uniprot
proteins
pubmed
9582194
uniprot
proteins
pubmed
9988267
uniprot
proteins
sequence_length
145
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}. Nucleus, nucleolus {ECO:0000269|PubMed:12586610, ECO:0000269|PubMed:17517689, ECO:0000269|PubMed:34516797}.
uniprot
proteins