RPL35A
entrez
6165
canonical
uniprot
P18077
canonical
ensembl
ENSG00000182899
resolver
ensp
ENSP00000393393
resolver
ensp
ENSP00000495672
resolver
ensp
ENSP00000555548
resolver
ensp
ENSP00000598282
resolver
ensp
ENSP00000598285
resolver
ensp
ENSP00000598288
resolver
ensp
ENSP00000598289
resolver
ensp
ENSP00000598291
resolver
ensp
ENSP00000598292
resolver
ensp
ENSP00000598294
resolver
ensp
ENSP00000598297
resolver
ensp
ENSP00000598298
resolver
ensp
ENSP00000598299
resolver
enst
ENST00000448864
resolver
enst
ENST00000647248
resolver
enst
ENST00000885489
resolver
enst
ENST00000928223
resolver
enst
ENST00000928226
resolver
enst
ENST00000928229
resolver
enst
ENST00000928230
resolver
enst
ENST00000928232
resolver
enst
ENST00000928233
resolver
enst
ENST00000928235
resolver
enst
ENST00000928238
resolver
enst
ENST00000928239
resolver
enst
ENST00000928240
resolver
genesymbol
RPL35A
resolver
hgnc
HGNC:10345
resolver
uniprot
Q08ES9
resolver
uniprot
Q9BVN7
resolver
uniprot_entry
RL35A_HUMAN
resolver
uniprot_sec
Q08ES9
resolver
uniprot_sec
Q9BVN7
resolver
amino_acid_sequence
MSGRLWSKAIFAGYKRGLRNQREHTALLKIEGVYARDETEFYLGKRCAYVYKAKNNTVTPGGKPNKTRVIWGKVTRAHGNSGMVRAKFRSNLPAKAIGHRIRVMLYPSRI
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 5 (DBA5) [MIM:612528]: 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:18535205}. 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:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547). Required for the proliferation and viability of hematopoietic cells (PubMed:18535205). {ECO:0000269|PubMed:18535205, ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:32669547}.
uniprot
proteins
mass_dalton
12538
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eL33 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18535205
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23636399
uniprot
proteins
pubmed
2388839
uniprot
proteins
pubmed
24524803
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
32669547
uniprot
proteins
pubmed
8786106
uniprot
proteins
sequence_length
110
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23636399}.
uniprot
proteins