RPS15A
entrez
6210
canonical
uniprot
P62244
canonical
ensembl
ENSG00000134419
resolver
ensp
ENSP00000318646
resolver
ensp
ENSP00000457000
resolver
ensp
ENSP00000458115
resolver
ensp
ENSP00000458528
resolver
ensp
ENSP00000555029
resolver
ensp
ENSP00000555030
resolver
ensp
ENSP00000555031
resolver
ensp
ENSP00000594247
resolver
ensp
ENSP00000594248
resolver
ensp
ENSP00000594249
resolver
ensp
ENSP00000594250
resolver
ensp
ENSP00000594251
resolver
ensp
ENSP00000594252
resolver
ensp
ENSP00000594254
resolver
ensp
ENSP00000594256
resolver
ensp
ENSP00000594257
resolver
ensp
ENSP00000594258
resolver
enst
ENST00000322989
resolver
enst
ENST00000563390
resolver
enst
ENST00000565420
resolver
enst
ENST00000572008
resolver
enst
ENST00000884970
resolver
enst
ENST00000884971
resolver
enst
ENST00000884972
resolver
enst
ENST00000924188
resolver
enst
ENST00000924189
resolver
enst
ENST00000924190
resolver
enst
ENST00000924191
resolver
enst
ENST00000924192
resolver
enst
ENST00000924193
resolver
enst
ENST00000924195
resolver
enst
ENST00000924197
resolver
enst
ENST00000924198
resolver
enst
ENST00000924199
resolver
genesymbol
RPS15A
resolver
hgnc
HGNC:10389
resolver
uniprot
P39027
resolver
uniprot
P39031
resolver
uniprot
Q3MHD9
resolver
uniprot
Q8C023
resolver
uniprot
Q9BV24
resolver
uniprot_entry
RS15A_HUMAN
resolver
uniprot_sec
P39027
resolver
uniprot_sec
P39031
resolver
uniprot_sec
Q3MHD9
resolver
uniprot_sec
Q8C023
resolver
uniprot_sec
Q9BV24
resolver
amino_acid_sequence
MVRMNVLADALKSINNAEKRGKRQVLIRPCSKVIVRFLTVMMKHGYIGEFEIIDDHRAGKIVVNLTGRLNKCGVISPRFDVQLKDLEKWQNNLLPSRQFGFIVLTTSAGIMDHEEARRKHTGGKILGFFF
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 20 (DBA20) [MIM:618313]: A 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. DBA20 inheritance is autosomal dominant. {ECO:0000269|PubMed:27909223}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the small ribosomal subunit (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). Required for proper erythropoiesis (PubMed:27909223). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:27909223, ECO:0000269|PubMed:34516797}.
uniprot
proteins
mass_dalton
14840
uniprot
proteins
protein_family
Universal ribosomal protein uS8 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27909223
uniprot
proteins
pubmed
34516797
uniprot
proteins
pubmed
8185605
uniprot
proteins
pubmed
8706699
uniprot
proteins
pubmed
9582194
uniprot
proteins
sequence_length
130
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}. Nucleus, nucleolus {ECO:0000269|PubMed:34516797}.
uniprot
proteins