RPS27
entrez
6232
canonical
uniprot
P42677
canonical
ensembl
ENSG00000177954
resolver
ensp
ENSP00000499044
resolver
enst
ENST00000651669
resolver
genesymbol
RPS27
resolver
genesymbol_syn
MPS1
resolver
hgnc
HGNC:10416
resolver
uniprot
Q5T4L6
resolver
uniprot_entry
RS27_HUMAN
resolver
uniprot_sec
Q5T4L6
resolver
amino_acid_sequence
MPLAKDLLHPSPEEEKRKHKKKRLVQSPNSYFMDVKCPGCYKITTVFSHAQTVVLCVGCSTVLCQPTGGKARLTEGCSFRRKQH
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 17 (DBA17) [MIM:617409]: 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 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. {ECO:0000269|PubMed:25424902}. 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, PubMed:8706699). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902). 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:25424902, ECO:0000269|PubMed:34516797, ECO:0000269|PubMed:8706699}.
uniprot
proteins
mass_dalton
9461
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eS27 family
uniprot
proteins
pubmed
11875025
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25424902
uniprot
proteins
pubmed
34516797
uniprot
proteins
pubmed
8407955
uniprot
proteins
pubmed
8706699
uniprot
proteins
pubmed
8908372
uniprot
proteins
pubmed
9582194
uniprot
proteins
sequence_length
84
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}. Nucleus, nucleolus {ECO:0000269|PubMed:34516797}.
uniprot
proteins