RPL17
entrez
6139
canonical
uniprot
P18621
canonical
ensembl
ENSG00000215472
resolver
ensembl
ENSG00000265681
resolver
ensp
ENSP00000462023
resolver
ensp
ENSP00000462203
resolver
ensp
ENSP00000462385
resolver
ensp
ENSP00000462944
resolver
ensp
ENSP00000463490
resolver
ensp
ENSP00000463842
resolver
ensp
ENSP00000463885
resolver
ensp
ENSP00000480555
resolver
ensp
ENSP00000482577
resolver
ensp
ENSP00000584411
resolver
ensp
ENSP00000584413
resolver
ensp
ENSP00000632484
resolver
ensp
ENSP00000726605
resolver
enst
ENST00000580210
resolver
genesymbol
RPL17
resolver
hgnc
HGNC:10307
resolver
uniprot
B2R4H3
resolver
uniprot
B4E3C2
resolver
uniprot
B5ME31
resolver
uniprot
J3QL51
resolver
uniprot
J3QLC8
resolver
uniprot
Q3KQW2
resolver
uniprot
Q6NZ54
resolver
uniprot
Q7M4M5
resolver
uniprot_entry
J3QLC8_HUMAN
resolver
uniprot_entry
RL17_HUMAN
resolver
uniprot_sec
B2R4H3
resolver
uniprot_sec
B4E3C2
resolver
uniprot_sec
B5ME31
resolver
uniprot_sec
J3QL51
resolver
uniprot_sec
Q3KQW2
resolver
uniprot_sec
Q6NZ54
resolver
uniprot_sec
Q7M4M5
resolver
amino_acid_sequence
MVRYSLDPENPTKSCKSRGSNLRVHFKNTRETAQAIKGMHIRKATKYLKDVTLQKQCVPFRRYNGGVGRCAQAKQWGWTQGRWPKKSAEFLLHMLKNAESNAELKGLDVDSLVIEHIQVNKAPKMRRRTYRAHGRINPYMSSPCHIEMILTEKEQIVPKPEEEVAQKKKISQKKLKKQKLMARE
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 22 (DBA22) [MIM:621262]: 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. DBA22 is an autosomal dominant form characterized by erythroid maturation failure and skeletal developmental defects. {ECO:0000269|PubMed:39088281}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:32669547, ECO:0000305|PubMed:12962325}.
uniprot
proteins
mass_dalton
21397
uniprot
proteins
protein_family
Universal ribosomal protein uL22 family
uniprot
proteins
pubmed
11875025
uniprot
proteins
pubmed
12962325
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
1793733
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
2402465
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
32669547
uniprot
proteins
pubmed
39088281
uniprot
proteins
pubmed
9582194
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}.
uniprot
proteins