RPL27
entrez
6155
canonical
uniprot
P61353
canonical
ensembl
ENSG00000131469
resolver
ensp
ENSP00000253788
resolver
ensp
ENSP00000464813
resolver
ensp
ENSP00000467587
resolver
ensp
ENSP00000575435
resolver
ensp
ENSP00000575436
resolver
ensp
ENSP00000581503
resolver
enst
ENST00000253788
resolver
enst
ENST00000589037
resolver
enst
ENST00000589913
resolver
enst
ENST00000905376
resolver
enst
ENST00000905377
resolver
enst
ENST00000911444
resolver
genesymbol
RPL27
resolver
hgnc
HGNC:10328
resolver
uniprot
P08526
resolver
uniprot
Q4G0A9
resolver
uniprot_entry
RL27_HUMAN
resolver
uniprot_sec
P08526
resolver
uniprot_sec
Q4G0A9
resolver
amino_acid_sequence
MGKFMKPGKVVLVLAGRYSGRKAVIVKNIDDGTSDRPYSHALVAGIDRYPRKVTAAMGKKKIAKRSKIKSFVKVYNYNHLMPTRYSVDIPLDKTVVNKDVFRDPALKRKARREAKVKFEERYKTGKNKWFFQKLRF
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 16 (DBA16) [MIM:617408]: 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 large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902). {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:25424902, ECO:0000269|PubMed:25901680, ECO:0000269|PubMed:25957688, ECO:0000269|PubMed:32669547, ECO:0000305|PubMed:12962325}.
uniprot
proteins
mass_dalton
15798
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eL27 family
uniprot
proteins
pubmed
11875025
uniprot
proteins
pubmed
12962325
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20926688
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25424902
uniprot
proteins
pubmed
25901680
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25957688
uniprot
proteins
pubmed
26100019
uniprot
proteins
pubmed
32669547
uniprot
proteins
pubmed
8148381
uniprot
proteins
sequence_length
136
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:25957688}. Cytoplasm {ECO:0000305|PubMed:23636399, ECO:0000305|PubMed:25901680}. Rough endoplasmic reticulum {ECO:0000250|UniProtKB:A1XQU5}. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:A1XQU5, ECO:0000269|PubMed:25957688}.
uniprot
proteins