RPS17
entrez
6218
canonical
uniprot
P08708
canonical
ensembl
ENSG00000182774
resolver
ensembl
ENSG00000278229
resolver
ensp
ENSP00000483755
resolver
ensp
ENSP00000498019
resolver
enst
ENST00000617731
resolver
enst
ENST00000647841
resolver
genesymbol
RPS17
resolver
genesymbol_syn
RPS17L
resolver
hgnc
HGNC:10397
resolver
uniprot
B2R4U4
resolver
uniprot
P0CW22
resolver
uniprot_entry
RS17_HUMAN
resolver
uniprot_sec
B2R4U4
resolver
uniprot_sec
P0CW22
resolver
amino_acid_sequence
MGRVRTKTVKKAARVIIEKYYTRLGNDFHTNKRVCEEIAIIPSKKLRNKIAGYVTHLMKRIQRGPVRGISIKLQEEERERRDNYVPEVSALDQEIIEVDPDTKEMLKLLDFGSLSNLQVTQPTVGMNFKTPRGPV
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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:17647292, ECO:0000269|PubMed:19061985}. 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). 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:23636399, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
15550
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated at Lys-103 by RNF14 and RNF25 in response to ribosome collisions (ribosome stalling). {ECO:0000269|PubMed:36638793}.
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eS17 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17647292
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19061985
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
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
25114211
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
3240863
uniprot
proteins
pubmed
34516797
uniprot
proteins
pubmed
3529092
uniprot
proteins
pubmed
36638793
uniprot
proteins
pubmed
8706699
uniprot
proteins
sequence_length
135
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}. Nucleus, nucleolus {ECO:0000269|PubMed:34516797}.
uniprot
proteins